query stringlengths 16 148 | pos stringlengths 16 855 | neg stringlengths 0 2.05k | idx int64 0 132k | task_name stringclasses 1
value |
|---|---|---|---|---|
HOTAIR [SEP] chromosome | HOTAIR
HOTAIR (for HOX transcript antisense RNA) is a human gene located on chromosome 12. It is the first example of an RNA expressed on one chromosome that has been found to influence transcription on another chromosome.
Gene and transcribed RNA product.
The HOTAIR gene contains 6,232 bp and encodes 2.2 kb long nonco... | ) to an imprinting centre that overlaps the Kcnqot1 promoter and actually resides within a Kcnq1 sense exon. Similar to HOTAIR (see above), Eed-Ezh2 Polycomb complexes are recruited to the Kcnq1 loci paternal chromosome, possibly by Kcnqot1, where they may mediate gene silencing through repressive histone methylation. ... | 7,400 | zeroshot-train |
Histamine N-methyltransferase [SEP] chromosome | been mapped to chromosome 2.
Function.
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In... | Histamine N-methyltransferase
Histamine N-methyltransferase (HMT, HNMT) is an enzyme that in humans is encoded by the HNMT gene.
Histamine N-methyltransferase is one of two enzymes involved in the metabolism of histamine, the other being diamine oxidase. Histamine N-methyltransferase catalyzes the methylation of histam... | 7,401 | zeroshot-train |
ITM2B [SEP] chromosome | ITM2B
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the "ITM2B" gene.
"ITM2B" or "BRI2" is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheim... | mouse gene knock-out studies, the amount of ADAM7 secreted is directly linked to ADAM2 and ADAM3 protein levels. Complex formation between ADAM7, Calnexin, Hspa5, and Itm2b have been shown to act as a molecular chaperone after ADAM7 is incorporated into the membrane of sperm cells. Furthermore, complex formation with I... | 7,402 | zeroshot-train |
JAG1 [SEP] chromosome | JAG1
Jagged1 ("JAG1") is one of five cell surface proteins (ligands) that interact with 4 receptors in the mammalian Notch signaling pathway. The Notch Signaling Pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand... | Older children will often squat instinctively during a tet spell. This increases systemic vascular resistance and allows for a temporary reversal of the shunt. It increases pressure on the left side of the heart, decreasing the right to left shunt thus decreasing the amount of deoxygenated blood entering the systemic c... | 7,403 | zeroshot-train |
KIAA0922 [SEP] chromosome | human genome at chromosomal location 4q31.3 on the plus strand and is 170,364 base pairs (bp) in length, spanning from 154,387,498 to 154,557,863 along chromosome 4 (NC_000004.11). The gene has the aliases TMEM131L, FLJ10592, DKFZp586H1322, and LOC23240 The gene includes 44 distinct introns (with an additional 6 probab... | KIAA0922
Transmembrane protein 131-like(TMEM131L protein), alternatively named uncharacterized protein KIAA0922 (KIAA0922 protein), is an integral transmembrane protein encoded by the human gene KIAA0922 that is significantly conserved in eukaryotes, at least through protists. Although the function of this gene is not ... | 7,404 | zeroshot-train |
KIAA1109 [SEP] chromosome | KIAA1109
Uncharacterized protein KIAA1109 is a protein that in humans is encoded by the "KIAA1109" gene.
This protein has a function that is not yet understood. KIAA1109 has 3 aliases, FSA (fragile site-associated) protein, MGC110967 and DKFZp781P0474.
Gene.
Gene Location.
KIAA1109 is found on the long arm of chromosom... | KIAA1109 is a part of the KIAA1109/Tenr/IL2/IL21 gene region. This region consists of the three genes to the right of KIAA1109; ADAD1, IL2 and IL21.
Another gene located in the neighborhood of KIAA1109 is TRPC3. This gene is to the left of KIAA1109 on the opposite side of the genes described above.
Gene Expression.
Ac... | 7,405 | zeroshot-train |
KIAA1704 [SEP] chromosome | (macrophage-like human cell line) when treated with nicotine.
Gene.
Gene Location.
KIAA1704 is found on the chromosome 13, at locus q14.12, with the genomic sequence starting at 45,563,687 bp and ending at 45,602,405 bp.
Gene Gene Neighborhood.
KIAA1704 is located on the positive strand surrounded by 5 nearby genes.
Po... | KIAA1704
KIAA1704, also known as LSR7 (lipopolysaccharide-specific response protein 7), is a protein that in humans is encoded by the GPALPP1 (GPALPP motifs containing 1) gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The protein contains a conserve... | 7,406 | zeroshot-train |
KIAA1841 [SEP] chromosome | KIAA1841
KIAA1841 is a gene in humans that encodes a protein known as KIAA1841 (uncharacterized protein KIAA1841). KIAA1841 is targeted for the nucleus and it predicted to play a role in regulating transcription.
Gene.
Gene Location.
KIAA1841 is located on the long arm of chromosome 2 (2q14), starting at 61297486 and e... | spliced variants 4 form a protein product. The main transcript in humans is transcript ID ENST00000402291, or OTTHUMT00000325477.
Homology.
Homology Paralogs.
There are no paralogs of KIAA1841
Homology Orthologs.
Below is a table of a variety of orthologs of the human KIAA1841. The table include closely, intermediately... | 7,407 | zeroshot-train |
KIAA1958 [SEP] chromosome | KIAA1958
Protein KIAA1958 is a protein that in humans is encoded by the KIAA1958 gene. Orthologs of KIAA1958 go as far back in evolution to chordates, although, it is closer in homology to primates than any other orthologs. KIAA1958 has no known paralogs.
Gene.
KIAA1958 is located on the long arm of chromosome 9 (9.q32... | stability.
SNX30: Sorting nexin-30 may be linked to phosphatidylinositol binding.
Expression.
KIAA1958 is expressed in the highest quantities in the larynx as proposed by EST. The highest expression in developmental stage is the blastocyst and for health state, it is most found in uterine tumors.
Data from NCBI GEO Pro... | 7,408 | zeroshot-train |
LGR5 [SEP] chromosome | of adult stem cells in certain tissues.
Gene.
Prior to its current naming designation, LGR5 was also known as FEX, HG38, GPR49, and GPR67. The Human LGR5 gene is 144,810 bases long and located at chromosome 12 at position 12q22-q23. Both human, rat and mouse homologs contain 907 amino acids and seven transmembrane doma... | LGR5
Leucine-rich repeat-containing G-protein coupled receptor 5 (LGR5) also known as G-protein coupled receptor 49 (GPR49) or G-protein coupled receptor 67 (GPR67) is a protein that in humans is encoded by the LGR5 gene. It is a member of GPCR class A receptor proteins. R-spondin proteins are the biological ligands of... | 7,409 | zeroshot-train |
LSMEM1 [SEP] chromosome | LSMEM1
Leucine-Rich Single-Pass Membrane Protein 1 (LSMEM1) is a protein that, in humans, is encoded by the LSMEM1 gene.
Gene.
In humans, LSMEM1 is located on chromosome 7q31.1. LSMEM1 neighbors the gene IFRD1 in humans. Aliases for LSMEM1 include C7orf53, chromosome 7 open reading frame 53, and FLJ39575. The human mRN... | protein encoded by the gene LSMEM1 that were determined via two-hybrid screening (LSMEM2 and MAL) and reconstituted complex (APP) experiments. A reconstituted complex experiment detects interactions between purified proteins in vitro. The 3 proteins thought to interact with LSMEM1 are: MAL, APP, and LSMEM2. All three o... | 7,410 | zeroshot-train |
Lumican [SEP] chromosome | Lumican
Lumican, also known as LUM, is an extracellular matrix protein that, in humans, is encoded by the "LUM" gene on chromosome 12.
Structure.
Lumican is a proteoglycan Class II member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteog... | these SLRPs in the development of correctly sized and aligned collagen fibers in tendon. Along with other extracellular matrix components, lumican expression was increased in equine flexor tendons six weeks after an injury.
Lumican is present in the extracellular matrix of uteral tissues in fertile women. There is an i... | 7,411 | zeroshot-train |
MECP2 [SEP] chromosome | . The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.
DNA methylation is a major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2 (this protein), MBD1, MBD2, MBD3, and MBD... | are held in position by a variety of histone modifications and epigenetic markers.
Methyl-CpG-binding protein 2 (MeCP2) is a protein that binds to methylated DNA. MeCP2 has been found to associate most strongly with transcriptionally inactive chromomere domains. MeCP2 binding patterns to chromomere domains are proporti... | 7,412 | zeroshot-train |
MEFV [SEP] chromosome | and in the inflammatory response.
Although pyrin's function is not fully understood, it likely assists in keeping the inflammation process under control. Research indicates that pyrin helps regulate inflammation by interacting with the cytoskeleton. Pyrin may direct the migration of white blood cells to sites of inflam... | mutations, one from each parent is the threshold for a genetic diagnosis of FMF. However, most individuals who comply with the genetic diagnosis of FMF remain asymptomatic or undiagnosed. Whether this is due to modifier genes or environmental factors remains to be established.
Pathophysiology.
Virtually all cases are d... | 7,413 | zeroshot-train |
MSH2 [SEP] chromosome | MSH2
DNA mismatch repair protein Msh2 also known as MutS protein homolog 2 or MSH2 is a protein that in humans is encoded by the "MSH2" gene, which is located on chromosome 2. MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a h... | " expression. In acute lymphoblastoid leukemia (ALL), no MSH2 mutations were found while 43% of ALL patients showed MSH2 promoter methylation and 86% of relapsed ALL patients had MSH2 promoter methylation. There were, however, mutations in four other genes in ALL patients that destabilized the MSH2 protein, and these w... | 7,414 | zeroshot-train |
MSH3 [SEP] chromosome | and Expression.
In humans, the encoding gene for MSH3 is found on chromosome 5 at location 5q11-q12 upstream of the dihydrofolate reductase (DHFR) gene. MSH3 is encoded by 222,341 base pairs and creates a protein consisting of 1137 amino acids.
MSH3 is typically expressed at low levels in several transformed cell lines... | MSH2
DNA mismatch repair protein Msh2 also known as MutS protein homolog 2 or MSH2 is a protein that in humans is encoded by the "MSH2" gene, which is located on chromosome 2. MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a h... | 7,415 | zeroshot-train |
MSH6 [SEP] chromosome | hMSH6 is located on chromosome 2. It contains the Walker-A/B adenine nucleotide binding motif, which is the most highly conserved sequence found in all MutS homologs. As with other MutS homologs, hMSH6 has an intrinsic ATPase activity. It functions exclusively when bound to hMSH2 as a heterodimer, although hMSH2 itself... | MSH6 dimerize in the cytoplasm and then are imported into the nucleus together. In the MutSα dimer, MSH6 interacts with the DNA for mismatch recognition while MSH2 provides the stability that MSH6 requires. MSH2 can be imported into the nucleus without dimerizing to MSH6, in this case, MSH2 is probably dimerized to MSH... | 7,416 | zeroshot-train |
MT-ATP6 [SEP] chromosome | called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP. Mutations in the "MT-ATP6" gene have been found in approximately 10 to 20 percent of people with Leigh syn... | , is 681 base pairs in length. An unusual feature of "MT-ATP6" is the 46-nucleotide gene overlap of its first codons with the end of the "MT-ATP8" gene. With respect to the "MT-ATP6" reading frame (+3), the "MT-ATP8" gene ends in the +1 reading frame with a TAG stop codon.
The MT-ATP6 protein weighs 24.8 kDa and is com... | 7,417 | zeroshot-train |
MT-ND3 [SEP] chromosome | Structure.
MT-ND3 is located in human mitochondrial DNA from base pair 10,059 to 10,404. The MT-ND3 gene produces a 13 kDa protein composed of 115 amino acids. MT-ND3 is one of seven mitochondrially-encoded subunits of the enzyme NADH dehydrogenase (ubiquinone). Also known as Complex I, it is the largest of the respira... | MT-ND3 gene might interrupt their interaction and formation of subcomplexes, compromising Complex I function and leading to disease.
Structure.
The NDUFA9 gene is located on the p arm of chromosome 12 in position 13.3 and spans 45,222 base pairs. The gene produces a 42.5 kDa protein composed of 377 amino acids. NDUFA9 ... | 7,418 | zeroshot-train |
MUTYH [SEP] chromosome | different isoforms have been found for this gene.
Location and structure.
MUTYH has its locus on the short (p) arm of chromosome 1 (1p34.1), from base pair 45,464,007 to base pair 45,475,152 (45,794,835–45,806,142). The gene is composed of 16 exons and has a size of 546 amino acids and is approximately 7.1kb. The prese... | and the C-terminal on the 3’. Within the N-terminal. There is an helix-hairpin-helix and pseudo helix-hairpin-helix contained within the N-terminal, in addition to and iron cluster motif
Mechanism.
Repair of oxidative DNA damage is the result of a collaborative effort of MUTYH, OGG1, and MTH1. MUTYH gene acts on the ad... | 7,419 | zeroshot-train |
Myc [SEP] chromosome | In the human genome, "C-myc" is located on chromosome 8 and is believed to regulate expression of 15% of all genes through binding on enhancer box sequences (E-boxes).
In addition to its role as a classical transcription factor, "N-myc" may recruit histone acetyltransferases (HATs). This allows it to regulate global ch... | , Myelocytomatosis ("v-myc"; ) and a human gene over-expressed in various cancers, cellular Myc ("c-Myc"). Later, discovery of further homologous genes in humans led to the addition of "n-Myc" and "l-Myc" to the family of genes.
The most frequently discussed example of "c-Myc" as a proto-oncogene is its implication in ... | 7,420 | zeroshot-train |
Myeloperoxidase [SEP] chromosome | Myeloperoxidase
Myeloperoxidase (MPO) is a peroxidase enzyme that in humans is encoded by the "MPO" gene on chromosome 17. MPO is most abundantly expressed in neutrophil granulocytes (a subtype of white blood cells), and produces hypohalous acids to carry out their antimicrobial activity. It is a lysosomal protein stor... | activity, and Auer rods are not seen. The blasts react with antibodies to myeloperoxidase and antibodies to CD13, CD33, and CD34. Human leukocyte antigen (HLA)-DR is positive in most patients. Occasional cases require in situ hybridization to identify the myeloperoxidase gene315 or genomic profiling for early myeloid-a... | 7,421 | zeroshot-train |
NALP3 [SEP] chromosome | NALP3
NACHT, LRR and PYD domains-containing protein 3 (NALP3), also known as cryopyrin, is a protein that in humans is encoded by the "NLRP3" gene located on the long arm of chromosome 1.
NALP3 is expressed predominantly in macrophages and as a component of the inflammasome, detects products of damaged cells such as ex... | NALP3 belongs to the NOD-like receptor (NLR) subfamily of PRRs and NALP3 together with the adaptor ASC protein PYCARD forms a caspase-1 activating complex known as the NALP3 inflammasome. NALP3 in the absence of activating signal is kept in an inactive state complexed with HSP90 and SGT1 in the cytoplasm. NALP3 inflamm... | 7,422 | zeroshot-train |
NBPF3 [SEP] chromosome | NBPF3
Neuroblastoma breakpoint family, member 3, also known as NBPF3, is a human gene of the neuroblastoma breakpoint family, which resides on chromosome 1 of the human genome. NBPF3 is located at 1p36.12, immediately upstream of genes ALPL and RAP1GAP.
Protein sequence.
The NBPF3 gene is 633 amino acids long and conta... | 26 known members of the Neuroblastoma Breakpoint Family genes and pseudogenes. The NBPF2 pseudogene and NBPF3 gene are the most similar genes located close to NBPF1 and they reside on the chromosomal location 1p36.12. Most members of the NBPF gene family are located on chromosomal location 1q21.1-1q23.3 in humans, and ... | 7,423 | zeroshot-train |
NCK2 [SEP] chromosome | NCK2
Cytoplasmic protein NCK2 (also known as NCK-beta and Grb4) is a protein that in humans is encoded by the "NCK2" gene.
Function.
NCK belongs to family of adaptor proteins,There are two mammalian NCK genes, NCK1 and NCK2. NCK1 is located in chromosome 3 and NCK2 is located in chromosome 2. The protein contains three... | transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development.
Clinical significance.
Defects in this gene cause severe immunodeficiency. This gene has also been linked to a susc... | 7,424 | zeroshot-train |
NOD2 [SEP] chromosome | NOD2
Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also known as caspase recruitment domain-containing protein 15 (CARD15) or inflammatory bowel disease protein 1 (IBD1), is a protein that in humans is encoded by the "NOD2" gene located on chromosome 16. NOD2 plays an important role in the immu... | were discovered, including 61 frameshift mutations. There are over 500 mutations on chromosome 17 that seem to play a role in the development of breast and ovarian cancer in the BRCA1 gene, many of which are frameshift.
Diseases Crohn's disease.
Crohn's disease has an association with the NOD2 gene. The mutation is an ... | 7,425 | zeroshot-train |
NWD1 [SEP] chromosome | NWD1
NWD1, short for NACHT and WD repeat domain containing 1, is a gene found in vertebrates, which encodes a protein that contains a NACHT domain and a WD40 repeat domain. It was originally identified during a search for immune system genes in zebrafish as a protein coding sequence related to APAF1; orthologs were sub... | GRWD1, GTF3C2,
- HERC1, HIRA, HZGJ,
- IFT121, IFT122, IFT140, IFT172, IFT80, IQWD1,
- KATNB1, KIAA1336, KIF21A, KIF21B, KM-PA-2,
- KEAP1,
- LLGL1, LLGL2, LRBA, LRRK1, LRRK2, LRWD1, LYST,
- MAPKBP1, MED16, MORG1,
- NBEA, NBEAL1, NEDD1, NLE1, NSMAF, NUP37, NUP43, NWD1,
- PAAF1, PAFAH1B1, PAK1IP1, PEX7, PHIP, PIK3R4, | 7,426 | zeroshot-train |
OCA2 [SEP] chromosome | on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.
Function.
OCA2 provides instructions for making the protein called P protein which is located in melanocytes which are specialized cells that produce melanin, and in the cells of the retinal pigment ep... | OCA2
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine -... | 7,427 | zeroshot-train |
OCRL [SEP] chromosome | OCRL
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the "OCRL" gene located on the X chromosome in humans.
This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.
Mutation in this gene ... | Dent disease 2 (nephrolithiasis type 2) is associated with the "OCRL" gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in "OCRL".
Diagnosis.
Diagnosis is based on genetic study of CNCL5 gene
Treatment.
As of today, no agreed-upon treatment of Dent'... | 7,428 | zeroshot-train |
OLIG2 [SEP] chromosome | in malignancies beyond glioma and leukemia, such as breast cancer, melanoma and non-small cell lung carcinoma cell lines. It also has been shown that up-regulation of OLIG2 together with LMO1 and Notch1 helps to provide proliferation signals.
Clinical Significance OLIG2 in Neural Diseases.
OLIG2 is also associated with... | In a study using the U12-1 cell line for controlled expression of OLIG2, researchers showed that OLIG2 can suppress the proliferation of U12-1 by transactivating the "p27" gene and can inhibit the motility of the cell by activating RhoA.
Besides glioma, OLIG2 is also involved in leukemogenesis. The "Olig2" gene was act... | 7,429 | zeroshot-train |
PARL [SEP] chromosome | PARL
Presenilins-associated rhomboid-like protein, mitochondrial also known as mitochondrial intramembrane cleaving protease PARL is an inner mitochondrial membrane protein that in humans is encoded by the "PARL" gene on chromosome 3. It is a member of the rhomboid family of intramembrane serine proteases. This protein... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,430 | zeroshot-train |
PEDF [SEP] chromosome | its adjacent neighbor on chromosome 17, SerpinF2.
Protein.
The PEDF protein is a secreted protein of roughly 50kDa size and 418 amino acids in length. The N-terminus contains a leader sequence responsible for protein secretion out of the cell at residues 1-19. A 34-mer fragment of PEDF (residues 24-57) was shown to hav... | protein around 50 kilodaltons (kDa) was identified and temporarily named RPE-54 before being officially termed pigment epithelium-derived factor.
Soon thereafter, the same laboratory sequenced the PEDF protein and compared it to a human fetal eye library. They found that PEDF was a previously uncharacterized protein an... | 7,431 | zeroshot-train |
PER1 [SEP] chromosome | ")
- PER ("Drosophila melanogaster")
- PER1 ("Xenopus tropicalis")
- PER1 ("Equus caballus")
- PER1 ("Macaca mulatta")
- PER1 ("Sus scrofa")
Gene Paralogs.
- PER2
- PER3
Gene Location.
The human PER1 gene is located on chromosome 17 at the following location:
- Start: 8,140,470
- Finish: 8,156,405
- Length: 15,936
- Ex... | ")
- PER3 ("H. sapiens")
- PER3 ("B. taurus")
- Per3 ("M. musculus")
- Per3 ("R. norvegicus")
- PER3 ("G. gallus")
- per3 ("X. tropicalis")
- per3 ("D. rerio")
Gene Paralogs.
- PER1
- PER2
Gene Gene location.
The human PER3 gene is located on chromosome 1 at the following location:
- Start: 7,784,320 bp | 7,432 | zeroshot-train |
PER2 [SEP] chromosome | some FASP. The primary cause of these FASP is a mutation that changes amino acid 662 from serine to glycine (S662G) in PER2. The S662G mutation makes PER2 mutant protein a stronger repressor than normal PER2, decreasing cellular PER2 levels and therefore causing this form of FASP. The mutation also seems to cause an in... | ")
- PER3 ("H. sapiens")
- PER3 ("B. taurus")
- Per3 ("M. musculus")
- Per3 ("R. norvegicus")
- PER3 ("G. gallus")
- per3 ("X. tropicalis")
- per3 ("D. rerio")
Gene Paralogs.
- PER1
- PER2
Gene Gene location.
The human PER3 gene is located on chromosome 1 at the following location:
- Start: 7,784,320 bp | 7,433 | zeroshot-train |
PGAM2 [SEP] chromosome | PGAM2
Phosphoglycerate mutase 2 (PGAM2), also known as muscle-specific phosphoglycerate mutase (PGAM-M), is a phosphoglycerate mutase that, in humans, is encoded by the "PGAM2" gene on chromosome 7.
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-P... | BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase deficiency, also known as glycogen storage disease X.[provided by RefSeq, Sep 2009]
Structure.
"PGAM2" is one of two genes in humans encoding a PGAM subunit, the other being "... | 7,434 | zeroshot-train |
PHEX [SEP] chromosome | PHEX
Phosphate-regulating neutral endopeptidase, X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene. This gene contains 18 exons and is located on the X chromosome.
Function.
T... | tumors. If this scan is not available, other options include Indium-111 Octreotide (Octreoscan) SPECT/CT, whole body CT or MRI imaging.
Diagnosis Differential diagnosis.
Serum chemistries are identical in tumor-induced osteomalacia, X-linked hypophosphatemic rickets (XHR) and autosomal dominant hypophosphatemic rickets... | 7,435 | zeroshot-train |
PHOX2B [SEP] chromosome | PHOX2B
Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the "PHOX2B" gene located on chromosome 4.
It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovas... | factor PHOX2B is highly specific for the peripheral autonomic nervous system. Neuroblasts are derived from sympathoadrenal lineage neural crest cells and therefore require and constitutively express PHOX2B. PHOX2B immunohistochemical staining, as a marker of neural crest derivation, has been shown to be sensitive and s... | 7,436 | zeroshot-train |
PMS2 [SEP] chromosome | PMS2
Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the "PMS2" gene.
Function.
This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. Human PMS2 related genes are located at bands 7p12, 7p13, 7q11, and 7q22. Exons 1 through 5 of these homologues share ... | cause confusion when identifying mutations in PMS2, leading to false positive conclusions of the presence of mutated PMS2.
Clinical significance Deficiency and overexpression.
Overexpression of PMS2 results in hypermutability and DNA damage tolerance. Deficiency of PMS2 also contributes to genetic instability by allowi... | 7,437 | zeroshot-train |
PON1 [SEP] chromosome | which are located adjacent to each other on chromosome 7.
Structure.
Human PON1 is a glycoprotein composed of 354 amino acids and has a molecular weight of 43000 Daltons which associates with high-density lipoprotein (HDL, "good cholesterol") in the circulation. Serum PON1 is secreted mainly by the liver, although loca... | style and pharmaceutical modulators of PON1 are known., by far the biggest effect on PON1 activity levels, which can vary by over 40 fold between individuals, is through PON1 genetic polymorphisms. The coding region PON1-Q192R polymorphism determines a substrate dependent effect on activity. Some substrates e.g. paraox... | 7,438 | zeroshot-train |
PRNP [SEP] chromosome | ingestion of diseased individuals, and vCJD disease, thought to be due to human ingestion of BSE-tainted cattle products.
Gene.
The human "PRNP" gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233.
Structure.
PrP is... | deletion of "PRNP" in animals has yielded several conflicting findings. When Aβ oligomers were injected into the cerebral ventricles of a mouse model of Alzheimer's, "PRNP" deletion did not offer protection, only anti-PrP antibodies prevented long-term memory and spatial learning deficits. This would suggest either an ... | 7,439 | zeroshot-train |
PTX3 [SEP] chromosome | ) engagement, TNFα, IL-1β]. PTX3 binds with high affinity to the complement component C1q, the extracellular matrix component TNFα induced protein 6 (TNFAIP6; also called TNF-stimulated gene 6, TSG-6) and selected microorganisms, including "Aspergillus fumigatus" and "Pseudomonas aeruginosa".
PTX3 activates the classic... | PTX3
Pentraxin-related protein PTX3 also known as TNF-inducible gene 14 protein (TSG-14) is a protein that in humans is encoded by the "PTX3" gene.
Pentraxin 3 (ptx3) is a member of the pentraxin superfamily. This super family characterized by cyclic multimeric structure.
PTX3 is rapidly produced and released by severa... | 7,440 | zeroshot-train |
Paraplegin [SEP] chromosome | Paraplegin
Paraplegin is a protein that in humans is encoded by the "SPG7" gene located on chromosome 16.
Structure.
The SPG7 gene contains 21 exons and encodes for a protein that is approximately 88 kDa in size. Two transcript variants encoding distinct isoforms have been identified for this gene.
The structure of th... | AFG3L2
AFG3 ATPase family gene 3-like 2 ("S. cerevisiae") is a protein that in humans is encoded by the "AFG3L2" gene.
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene i... | 7,441 | zeroshot-train |
Peptidylprolyl isomerase A [SEP] chromosome | Peptidylprolyl isomerase A
Peptidylprolyl isomerase A (PPIA), also known as cyclophilin A (CypA) or rotamase A is an enzyme that in humans is encoded by the "PPIA" gene on chromosome 7. As a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family, this protein catalyzes the cis-trans isomerization of proline ... | Peptidylprolyl isomerase D
Peptidylprolyl isomerase D (cyclophilin D), also known as PPID, is an enzyme which in humans is encoded by the "PPID" gene on chromosome 4. As a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family, this protein catalyzes the cis-trans isomerization of proline imidic peptide bond... | 7,442 | zeroshot-train |
Peptidylprolyl isomerase D [SEP] chromosome | Peptidylprolyl isomerase D
Peptidylprolyl isomerase D (cyclophilin D), also known as PPID, is an enzyme which in humans is encoded by the "PPID" gene on chromosome 4. As a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family, this protein catalyzes the cis-trans isomerization of proline imidic peptide bond... | Peptidylprolyl isomerase A
Peptidylprolyl isomerase A (PPIA), also known as cyclophilin A (CypA) or rotamase A is an enzyme that in humans is encoded by the "PPIA" gene on chromosome 7. As a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family, this protein catalyzes the cis-trans isomerization of proline ... | 7,443 | zeroshot-train |
QDPR [SEP] chromosome | a usable form. The regeneration of this substance is critical for the proper processing of several other amino acids in the body. Tetrahydrobiopterin also helps produce certain chemicals in the brain called neurotransmitters, which transmit signals between nerve cells.
The QDPR gene is located on the short (p) arm of c... | QDPR
QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase. This enzyme is part of the pathway that recycles a substance called tetrahydrobiopterin, also known as BH4. Tetrahydrobiopterin works with an enzyme called phenylalanine hydroxylase to process a s... | 7,444 | zeroshot-train |
QSER1 [SEP] chromosome | QSER1
Glutamine Serine Rich Protein 1 or QSER1 is a protein encoded by the "QSER1" gene.
The function of this protein is currently unknown. QSER1 has one alias, FLJ21924.
Gene.
Gene Location.
The QSER1 gene is found on the short arm of chromosome 11 (11p13), beginning at 32,914,792 bp and ending at 33,001,816 bp. It is... | , which is implicated in multiple pathologies.
Gene Homology.
Gene Homology Orthologs.
QSER1 is highly conserved in most species of the clade Chordata. Orthologs have been found in primates, birds, reptiles, amphibians, and fish as far back as the coelacanth, which diverged 414.9 million years ago.
Gene Homology Paralo... | 7,445 | zeroshot-train |
RAET1L [SEP] chromosome | RAET1L
Retinoic acid early transcript 1L (RAET1L) is a cell surface glycoprotein encoded by "RAET1L" gene located on the chromosome 6. RAET1L is related to MHC class I molecules, but its gene maps outside the MHC locus. RAET1L is composed of the α1α2 domain and is linked to the cell membrane by the GPI anchor. It funct... | proteins: MICs (MICA, MICB) and ULBPs (ULBP1, ULBP2, ULBP3, ULBP4, RAET1G, RAET1L).
Other receptors able to bind induced-self antigens are NKG2C, NKG2E, NKG2F (CD94) or some NCRs (e.g. NKp 46 ).
Tumor targeting.
Practical use of the knowledge of induced-self antigens is in targeting tumors for immune response. As tumor... | 7,446 | zeroshot-train |
RFX1 [SEP] chromosome | RFX1
MHC class II regulatory factor RFX1 is a protein that, in humans, is encoded by the "RFX1" gene located on the short arm of chromosome 19.
Structure.
The RFX1 gene is a member of the regulatory factor X (RFX) gene family, which encodes transcription factors that contain five conserved domains including a highly co... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,447 | zeroshot-train |
RICTOR [SEP] chromosome | RICTOR
Rapamycin-insensitive companion of mammalian target of rapamycin (RICTOR) is a protein that in humans is encoded by the "RICTOR" gene.
RICTOR and mTOR are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth.
Structure.
The gene RICTOR is located on ... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,448 | zeroshot-train |
ROCK1 [SEP] chromosome | kinase. ROCK1 is activated when bound to the GTP-bound form of RhoA. The human ROCK1 gene is located on human chromosome 18 with specific location of 18q11.1. The location of the base pair starts at 18,529,703 and ends at 18,691,812 bp and translates into 1354 amino acids.
ROCK1 has a ubiquitous tissue distribution, bu... | ROCK1
ROCK1 is a protein serine/threonine kinase also known as rho-associated, coiled-coil-containing protein kinase 1. Other common names are ROKβ and P160ROCK. ROCK1 is a major downstream effecter of the small GTPase RhoA and is a regulator of the actomyosin cytoskeleton which promotes contractile force generation. R... | 7,449 | zeroshot-train |
RSPH6A [SEP] chromosome | are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns.
Clinical significance.
The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). | RSPH6A
Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the "RSPH6A" gene.
Function.
Radial spoke head protein 6 homolog A is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the ... | 7,450 | zeroshot-train |
RUNX1 [SEP] chromosome | also called core binding factor-α (CBFα). RUNX proteins form a heterodimeric complex with CBFβ which confers increased DNA binding and stability to the complex.
Chromosomal translocations involving the "RUNX1" gene are associated with several types of leukemia including M2 AML. Mutations in "RUNX1" are implicated in ca... | chromosome rearrangements that create oncogenic fusion genes in leukemia. The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 ("ETV6") and RUNX1 genes results in "ETV6-RUNX1" gene fusion and is the most common genetic aberration in childhood acute lymphoblastic leukemia (ALL). The “... | 7,451 | zeroshot-train |
SCNN1B [SEP] chromosome | organization of the human beta ENaC gene SCNN1B was determined by Saxena et al. by sequencing genomic DNA from three subjects from three different ethnic groups. This study also established that the exon-intron architecture of the three subunits of ENaC have remained highly conserved despite the divergence of their seq... | indicated that the SCNN1B gene has 13 exons separated by 12 introns. The positions of introns are conserved in all three human ENaC genes, SCNN1A, SCNN1B and SCNN1G. The positions of the introns are also highly conserved across vertebrates. See: Ensembl GeneTree.
Analysis of transcripts of the SCNN1B gene in human kidn... | 7,452 | zeroshot-train |
SCNN1D [SEP] chromosome | in the short arm of chromosome 1 (Ensembl database code: ENSG00000162572) and starts at nucleotide 1,280,436 on the forward strand. Its length is about 11,583 bp. The gene encodes several alternative transcripts with different transcription and translation initiation sites (see Fig. 1 below). In mRNA samples from human... | SCNN1D
The SCNN1D gene encodes for the δ (delta) subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G.
ENaC is expressed in epithelial cells an... | 7,453 | zeroshot-train |
SLC24A5 [SEP] chromosome | humans, is located on the long (q) arm of chromosome 15 on position 21.1, from base pair 46,200,461 to base pair 46,221,881.
Protein.
NCKX5 is 43 kDa protein that is partially localized to the trans-Golgi network in melanocytes. Removal of the NCKX5 protein disrupts melanogenesis in human and mouse melanocytes, causing... | like without cream. Only one horse has been tested to carry this genotype.br
TE1/n, TE2/n, or n/n: Dark eyes.
Molecular Genetics.
The gene involved codes for SLC24A5, a solute carrier known to be involved in pigmentation in other species. "SLC24A5" is found on equine chromosome 1 base pairs 141,657,837–141,678,329 and ... | 7,454 | zeroshot-train |
SOGA2 [SEP] chromosome | organisms such as zebra finches and anoles.
SOGA2 is ubiquitously expressed in humans, with especially high expression in brain (especially the cerebellum and hippocampus), colon, pituitary gland, small intestine, spinal cord, testis and fetal brain.
Gene.
Gene Locus.
The SOGA2 gene is located from 8717369 - 8832775 on... | SOGA2
SOGA2, also known as Suppressor of glucose autophagy associated 2 or CCDC165, is a protein that in humans is encoded by the "SOGA2" gene.
SOGA2 has two human paralogs, SOGA1 and SOGA3.
In humans, the gene coding sequence is 151,349 base pairs long, with an mRNA of 6092 base pairs, and a protein sequence of 1586 a... | 7,455 | zeroshot-train |
TAAR1 [SEP] chromosome | function. Mutations in region q23.1 of human chromosome 6 – the same chromosome that codes for TAAR1 – have been linked to schizophrenia.
Medical reviews from February 2015 and 2016 noted that TAAR1-selective ligands have significant therapeutic potential for treating psychostimulant addictions (e.g., cocaine, amphetam... | 6q23.1, 192 kb of mouse chromosome 10A4, and 216 kb of rat chromosome 1p12. Each TAAR is derived from a single exon, except for TAAR2, which is coded by two exons. The human "TAAR1" gene is thought to be an intronless gene.
Tissue distribution.
To date, TAAR1 has been identified and cloned in five different mammal geno... | 7,456 | zeroshot-train |
TANGO2 [SEP] chromosome | TANGO2
Transport and golgi organization 2 homolog (TANGO2) also known as chromosome 22 open reading frame 25 (C22orf25) is a protein that in humans is encoded by the TANGO2 gene.
The function of C22orf25 is not currently known. It is characterized by the NRDE superfamily domain (DUF883), which is strictly known for the... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,457 | zeroshot-train |
TBR1 [SEP] chromosome | on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. "TBR1" is one of the three genes that make up the TBR1 subfamily of T-box genes. The two other genes that form the TBR1 subfamily are "EOMES" (also known as "TBR2") and "TBX21" (also known as "T-BET"). "TBR1" is also known as "T-box ... | which describes the likelihood that two genes are near each other on a chromosome, and thus will be inherited together, areas of strong or suggestive linkage with inheritance of synesthesia were found. The area with the highest LOD score in the genome of an individual with auditory-visual synesthesia has been shown to ... | 7,458 | zeroshot-train |
TBX22 [SEP] chromosome | palatogenesis. It has previously been mapped to the long arm of the X chromosome and it has now been demonstrated that mutations in the gene TBX22 are the cause of this syndrome. TBX22 mutations also result in non-syndromic cleft palate in some populations.
TBX22 is composed of seven exons spanning 8.7 kilobases of gen... | TBX22
T-box transcription factor TBX22 is a protein that in humans is encoded by the "TBX22" gene.
TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutat... | 7,459 | zeroshot-train |
TMEM 249 [SEP] chromosome | TMEM249
TMEM 249 is a protein that in humans is encoded by the C8orfk29 gene.
Locus.
TMEM 249 is located near the end of the long arm of chromosome 8 in humans.
Common aliases.
TMEM 249 is also known as C8orfk29.
Primary sequence & variants/isoforms.
The primary sequence found at NCBI and
Aceview on NCBI predicts there... | and 2 are translated in the 3' to 5' direction while transcripts 3 through 5 are translated in the 5' to 3' direction. Note that the gene is encoded on the minus strand within the chromosome.
Paralogs.
The only known paralog of human TMEM 249 is found in the second isoform of the protein in Gorillas. Of the 217 amino a... | 7,460 | zeroshot-train |
TMEM143 [SEP] chromosome | TMEM143
TMEM143 (Transmembrane protein 143) is a protein that in humans is encoded by TMEM143 gene. TMEM143, a dual-pass protein (two transmembrane domains), is predicted to reside in the mitochondria and high expression has been found in both human skeletal muscle and the heart. Interaction with other proteins indicat... | Expression and Function Interactions.
Through text mining, TMEM143 is shown to have interactions with seven different proteins in humans: Zinc finger protein 541 (ZNF541), DNA-damage inducible 1 homolog 2 (DD12), Paraneoplastic Ma antigen family-like 2 (PNMAL2), Kelch-like 31(JLHL31), Chromosome 14 open reading frame 2... | 7,461 | zeroshot-train |
TOMM40 [SEP] chromosome | , certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's Disease. One study has found that TOMM40 risk alleles appears twice as often in people with Alzheimer's disease than those without it. Because "TOMM40" is located on chromosome 19, and is closel... | TOMM40
Translocase of outer mitochondrial membrane 40 homolog (yeast), also known as TOMM40, is a protein which in humans is encoded by the "TOMM40" gene.
Function.
"TOMM40" codes for a protein that is embedded into outer membranes of mitochondria and is required for the movement of proteins into mitochondria. More pre... | 7,462 | zeroshot-train |
Testin [SEP] chromosome | Testin
Testin also known as TESS is a protein that in humans is encoded by the "TES" gene located on chromosome 7. TES is a 47 kDa protein composed of 421 amino acids found at focal adhesions and is thought to have a role in regulation of cell motility. In addition to this, TES functions as a tumour suppressor. The "TE... | Patrick Testin
Patrick Testin (born June 9, 1988) is a Wisconsin politician and legislator.
Born in Madison, Wisconsin, Testin received his bachelor's degree in political science from the University of Wisconsin–Stevens Point. Testin lived in Stevens Point, Wisconsin. In November 2016, Testin, a Republican, was elected... | 7,463 | zeroshot-train |
Tissue plasminogen activator [SEP] chromosome | activator is a protein encoded by the "PLAT" gene, which is located on chromosome 8. The primary transcript produced by this gene undergoes alternative splicing, producing three distinct messenger RNAs.
See also.
- Ultrasound-enhanced systemic thrombolysis
External links.
- History of Discovery: The Tissue-Type Plasmin... | of tissue plasminogen activator and urokinase is plasminogen activator inhibitor-1 (PAI-1). Plasminogen activator inhibitor-1 is a serine protease, synthesized by endothelial cells, that specifically inhibits tissue plasminogen activator (tPA) and urokinase (uPA). Tissue plasminogen activator and urokinase are the acti... | 7,464 | zeroshot-train |
Transmembrane Protein 205 [SEP] chromosome | Transmembrane Protein 205
Transmembrane Protein 205 (TMEM205) is a protein encoded on chromosome 19 by the TMEM205 gene.
Gene.
TMEM205 is located on the minus strand of chromosome 19 from base pair 11,453,452 to 11,456,981. In close proximity to TMEM205, CCDC159 is located slightly upstream and RAB3D slightly down stre... | resting state.
Gene.
Gene Locus.
The human gene TMEM8A is found on chromosome 16 at the band 16p13.3.
The span of this gene on chromosome 16 spans from base pair 420,773 to 437,113 making this gene 16,340 base pairs in length. This gene is found on the minus strand of the chromosome. There are no known isoforms.
Gene A... | 7,465 | zeroshot-train |
Transmembrane protein 53 [SEP] chromosome | Transmembrane protein 53
Transmembrane protein 53, or TMEM53, is a protein that is encoded on chromosome 1 in humans. It has no paralogs but is predicted to have many orthologs across eukaryotes.
Properties and Structure.
Properties and Structure General Properties.
- DUF829 makes up 87% of TMEM53's length
- Contains a... | DMAC1
Transmembrane protein 261 is a protein that in humans is encoded by the "TMEM261" gene located on chromosome 9. TMEM261 is also known as C9ORF123 and DMAC1, Chromosome 9 Open Reading Frame 123 and Transmembrane Protein C9orf123 and Distal membrane-arm assembly complex protein 1.
Gene Features.
"TMEM261" is locate... | 7,466 | zeroshot-train |
Triadin [SEP] chromosome | Triadin
Triadin, also known as TRDN, is a human gene associated with the release of calcium ions from the sarcoplasmic reticulum triggering muscular contraction through calcium-induced calcium release. Triadin is a multiprotein family, arising from different processing of the TRDN gene on chromosome 6. It is a transmem... | ) section of Triadin has areas of highly charged amino acid residues that act as luminal Ca receptors. Triadin is also able to sense luminal Ca concentrations by mediating interactions between RYR2 and CASQ2. Triadin has several different forms; Trisk 95 and Trisk 51, which are expressed in skeletal muscle, and Trisk 3... | 7,467 | zeroshot-train |
Tsix [SEP] chromosome | Tsix
Tsix is a non-coding RNA gene that is antisense to the Xist RNA. Tsix binds Xist during X chromosome inactivation. The name Tsix comes from the reverse of Xist, which stands for X-inactive specific transcript.
Background.
Female mammals have two X chromosomes and males have one X and one Y chromosome. The X chromo... | Ensembles.
Ensembles Chamber music ensembles of the MDR Symphony Orchestra.
- Arcato Streichquartett (since 1999)
- Döring-Bläserquintett (since 1982)
- Kammersymphonie Leipzig (since 2006)
- Leipziger Hornquartett (since 1996)
- Leipziger Schlagzeugensemble (since 1983)
- Leipziger Blechbläsersolisten (since 1992)
- M... | 7,468 | zeroshot-train |
UBE3A [SEP] chromosome | through the Ube3a-ATS part of a lincRNA called "LNCAT", (Large Non-Coding Antisense Transcript).
The UBE3A gene is located on the long (q) arm of chromosome 15 between positions 11 and 13, from base pair 23,133,488 to base pair 23,235,220.
Clinical significance.
Mutations within the UBE3A gene are responsible for some ... | ATS" part of "LNCAT", since non-coding antisense transcripts are often found at imprinted loci. The deletion and/or mutation of "Ube3a" on the maternal chromosome causes Angelman Syndrome (AS) and "Ube3a-ATS" may prove to be an important aspect in finding a therapy for this disease. While in patients with AS the matern... | 7,469 | zeroshot-train |
ULBP1 [SEP] chromosome | ULBP1
UL16 binding protein 1 (ULBP1) is a cell surface glycoprotein encoded by "ULBP1" gene located on the chromosome 6. ULBP1 is related to MHC class I molecules, but its gene maps outside the MHC locus. The domain structure of ULBP1 differs significantly from those of conventional MHC class I molecules. It does not c... | ligand for NKG2D receptor. ULBP1 is, for example, upregulated during HCMV infection. Binding of HCMV-encoded UL16 glycoprotein to ULBP1 interferes with cell surface localization of ULBP1; this represents another mechanism by which HCMV-infected cells might escape the immune system. | 7,470 | zeroshot-train |
ULBP2 [SEP] chromosome | ULBP2
UL16 binding protein 2 (ULBP2) is a cell surface glycoprotein encoded by "ULBP2" gene located on the chromosome 6. ULBP2 is related to MHC class I molecules, but its gene maps outside the MHC locus. The domain structure of ULBP2 differs significantly from those of conventional MHC class I molecules. It does not c... | Hopkins Hospital experimented on thirteen XYY boys and men (ages 15 to 37) in an unsuccessful attempt to treat their history of behavior problems by chemical castration using high-dose Depo-Provera—with side-effects of weight gain (avg. 26 lbs.) and suicide.
In the late 1960s and early 1970s, screening of consecutive n... | 7,471 | zeroshot-train |
UQCR11 [SEP] chromosome | UQCR11
UQCR11 (ubiquinol-cytochrome c reductase, complex III sub-unit XI) is a protein that in humans is encoded by the "UQCR11" gene. UQCR11 is the smallest known component of Complex III in the mitochondrial respiratory chain.
Structure.
The UQCR11 gene, located on the p arm of chromosome 19 in position 13.3, is made... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,472 | zeroshot-train |
WNT4 [SEP] chromosome | WNT4
WNT4 is a secreted protein that in humans is encoded by the "Wnt4" gene, found on chromosome 1. It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as female to male sex reversal.
Function.
The WNT gene family consists of structurally related ... | Wnt4", "Lhx9", "FGF9", "GATA4" and "SF1". In females the presence of a second X chromosome causes "Wnt4" and "R-spondin 1" to be upregulated, therefore promoting female ovary development. These factors induce the expression of FOXL2 which then suppresses "Sox9" (the factor responsible for testicular cell development). ... | 7,473 | zeroshot-train |
Wilson disease protein [SEP] chromosome | Gene.
Wilson disease protein is associated with "ATP7B" gene,approximate 80 Kb, located on human chromosome 13 and consists of 21 exons. The mRNA transcribed by "ATP7B" gene has a size of 7.5 Kb, and which encodes a protein of 1465 amino acids.
The gene is a member of the P-type cation transport ATPase family and encod... | the active X chromosome will transcribe mRNA and produce protein. The exome sequencing provides a dataset that shows target sequences, giving an indication of disease-related protein coding regions. mRNA sequencing is then used on these regions to focus on the X chromosome and find single nucleotide polymorphisms (SNP)... | 7,474 | zeroshot-train |
XBP1 [SEP] chromosome | XBP1
X-box binding protein 1, also known as XBP1, is a protein which in humans is encoded by the "XBP1" gene. The "XBP1" gene is located on chromosome 22 while a closely related pseudogene has been identified and localized to chromosome 5. The XBP1 protein is a transcription factor that regulates the expression of gene... | are misregulated, and XBP1-lacking plasma cells fail to colonize their long-lived niches in the bone marrow and to sustain antibody secretion.
Function Eosinophil differentiation.
XBP1 is required for eosinophil differentiation. Eosinophils lacking XBP1 exhibit defects in granule proteins.
Function Angiogenesis.
XBP1 a... | 7,475 | zeroshot-train |
XIAP [SEP] chromosome | XIAP
X-linked inhibitor of apoptosis protein (XIAP), also known as inhibitor of apoptosis protein 3 (IAP3) and baculoviral IAP repeat-containing protein 4 (BIRC4), is a protein that stops apoptotic cell death. In humans, this protein (XIAP) is produced by a gene named "XIAP" gene located on the X chromosome.
XIAP is a ... | Inhibitor of apoptosis domain
The inhibitor of apoptosis domain -- also known as IAP repeat, Baculovirus Inhibitor of apoptosis protein Repeat, or BIR -- is a structural motif found in proteins with roles in apoptosis, cytokine production, and chromosome segregation. Proteins containing BIR are known as inhibitor of ap... | 7,476 | zeroshot-train |
ZNF184 [SEP] chromosome | ZNF184
Zinc finger protein 184, also known as ZNF184, is a protein that in humans is encoded by the "ZNF184" gene on chromosome 6. It was first identified by Goldwurm "et al." in 1996.
The National Center for Biotechnology Information (NCBI) Gene database entry for "ZNF184" identifies conserved domains KRAB_A (Krüppel ... | and the latter with DNA binding (see Zinc finger).
Domains and Structure.
The figure below is a reformatted and annotated conceptual translation display of "ZNF184"'s Consensus CDS. CCDS displays exons in alternating black and blue font, with red indicating a residue coded across a splice boundary.
ZNF184 has 19 zinc f... | 7,477 | zeroshot-train |
BCKDK [SEP] chromosome | BCKDK
Branched chain ketoacid dehydrogenase kinase (BCKDK) is an enzyme encoded by the BCKDK gene on chromosome 16. This enzyme is part of the mitochondrial protein kinases family and it is a regulator of the valine, leucine, and isoleucine catabolic pathways. BCKDK is found in the mitochondrial matrix and the prevalen... | gene Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK). Mutations found in BCKDK were found in consanguineous families with epilepsy, autism, and intellectual disabilities. Previously, the BCKDK was known to cause Maple Syrup Urine disease (MSUD). Mutations in this gene could potentially treat autism and epilepsy. T... | 7,478 | zeroshot-train |
CXCL10 [SEP] chromosome | CXCL10
C-X-C motif chemokine 10 (CXCL10) also known as Interferon gamma-induced protein 10 (IP-10) or small-inducible cytokine B10 is an 8.7 kDa protein that in humans is encoded by the "CXCL10" gene. C-X-C motif chemokine 10 is a small cytokine belonging to the CXC chemokine family.
Gene.
The gene for CXCL10 is locate... | 3 different conditions to a resolution of up to 1.92 Å. The Protein Data Bank accession codes for the structures of CXCL10 are , , and .
Biomarkers.
CXCL9, CXCL10 and CXCL11 have proven to be valid biomarkers for the development of heart failure and left ventricular dysfunction, suggesting an underlining pathophysiolog... | 7,479 | zeroshot-train |
FADD [SEP] chromosome | FADD
Fas-associated protein with death domain (FADD), also called MORT1, is encoded by the "FADD" gene on the 11q13.3 region of chromosome 11 in humans.
FADD is an adaptor protein that bridges members of the tumor necrosis factor receptor superfamily, such as the Fas-receptor, to procaspases 8 and 10 to form the death-... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,480 | zeroshot-train |
FOXP3 [SEP] chromosome | intron boundaries are identical across the coding regions of the mouse and human genes. By genomic sequence analysis, the FOXP3 gene maps to the "p" arm of the X chromosome (specifically, X"p"11.23).
Physiology.
Foxp3 is a specific marker of natural T regulatory cells (nTregs, a lineage of T cells) and adaptive/induced... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,481 | zeroshot-train |
GIPC3 [SEP] chromosome | .
The human "GIPC3" gene is located on the short arm of chromosome 19 at p13.3. The locus extends over about 8 kbp and contains the six coding exons that give rise to an open reading frame of 639 nucleotides encoding the GIPC3 protein of 312 amino acids. A single PDZ domain is located at amino acid position 122-189.
I... | size. Besides their hearing impairment, Black Swiss mice also are hypersensitive to acoustic stimulation, reacting with seizures (audiogenic seizures) to loud white noise. A genetic locus conferring susceptibility was identified (juvenile audiogenic monogenic seizures1, "jams1") on chromosome 10. A positional cloning a... | 7,482 | zeroshot-train |
KIAA0895 [SEP] chromosome | KIAA0895
KIAA0895 is a protein that in "Homo sapiens" is encoded by the KIAA0895 gene. The gene encodes a protein commonly known as the KIAA0895 protein. It's aliases include hypothetical protein LOC23366, OTTHUMP00000206979, OTTHUMP00000206980, 9530077C05Rik, and 1110003N12Rik. It is located at 7p14.2.
Research into ... | KIAA0895L
Uncharacterized protein KIAA0895-like also known as LOC653319, is a protein that in humans is encoded by the "KIAA0895L" gene.
Gene.
KIAA0895L is located at q22.1 on chromosome 16 of the human genome. Its genomic DNA consists of 8,379 base pairs. KIAA0895L is located between EXOC3L and E2F4 on the right, and ... | 7,483 | zeroshot-train |
KLF2 [SEP] chromosome | KLF2
Krüppel-like Factor 2 (KLF2), also known as lung Krüppel-like Factor (LKLF), is a protein that in humans is encoded by the "KLF2" gene on chromosome 19. It is a member of the Krüppel-like factor family of zinc finger transcription factors, and it has been implicated in a variety of biochemical processes in the hum... | -cells in this indolent lymphoma are CD5+/−, CD10−, CD19+, CD23−, CD43−, CD103−, and do not express cyclin D1. These cells may bear deletion in the "q" arm of chromosome 7 (30% of cases), and mutations in "NOTCH2" (10-25% of cases), "KLF2" (10-40% of cases), and, rarely, "MYD88" genes. The monoclonal cells are also CD2... | 7,484 | zeroshot-train |
MPV17 [SEP] chromosome | The human MPV17 gene is located on chromosome 2 at p21-23, comprising eight exons encoding 176 amino acids.
Structure Protein.
MPV17 belongs to a family of integral membrane proteins consisting of four members (PXMP2, MPV17, MP-L, and FKSG24 (MPV17L2)) in mammals and two members (Sym1 and Yor292) in yeast. The amino ac... | MPV17
Protein MPV17 is a protein that in humans is encoded by the "MPV17" gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue ... | 7,485 | zeroshot-train |
NDUFA4 [SEP] chromosome | NDUFA4
NDUFA4, mitochondrial complex associated is a protein that in humans is encoded by the NDUFA4 gene. The NDUFA3 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in the N... | the mitochondrial matrix.
Clinical significance.
Mutations in the NDUFA4 gene can result in Leigh's syndrome, a severe neurological disorder that typically arises in the first year of life. Disruption of Complex IV, also called cytochrome c oxidase or COX, is the most common cause of Leigh syndrome. Given that NDUFA4 h... | 7,486 | zeroshot-train |
NKG2D [SEP] chromosome | NKG2D
NKG2D is a transmembrane protein belonging to the CD94/NKG2 family of C-type lectin-like receptors. NKG2D is encoded by "KLRK1" gene which is located in the NK-gene complex (NKC) situated on chromosome 6 in mice and chromosome 12 in humans. In mice, it is expressed by NK cells, NK1.1 T cells, γδ T cells, activate... | 2, member D""). MICA is broadly recognized by NK cells, γδ T cells, and CD8 αβ T cells which carry NKG2D receptor on their cell surface and which are activated "via" this interaction.
Structure.
The MICA gene is highly polymorphic in humans with more than 50 defined alleles. It is located on chromosome 6 and the protei... | 7,487 | zeroshot-train |
NME8 [SEP] chromosome | NME8
Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene (also known as the "TXNDC3" gene) on chromosome 7.
Function.
This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nuc... | wide association studies (GWAS) have found 19 areas in genes that appear to affect the risk. These genes include: CASS4, CELF1, FERMT2, HLA-DRB5, INPP5D, MEF2C, NME8, PTK2B, SORL1, ZCWPW1, SlC24A4, CLU, PICALM, CR1, BIN1, MS4A, ABCA7, EPHA1, and CD2AP.
Alleles in the TREM2 gene have been associated with a 3 to 5 times ... | 7,488 | zeroshot-train |
PCNT [SEP] chromosome | PCNT
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the "PCNT" gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, un... | spindle formation. The protein controls the nucleation of microtubules by interacting with the microtubule nucleation component γ-tubulin, thus anchoring the γ-tubulin ring complex to the centrosome, which is essential for bipolar spindle formation and chromosome assembly in early mitosis. This ensures normal function ... | 7,489 | zeroshot-train |
SCNN1A [SEP] chromosome | fluid. Thus, ENaC plays a central role in the regulation of body fluid and electrolyte homeostasis and consequently affects blood pressure.
As ENaC is strongly inhibited by amiloride, it is also referred to as an "amiloride-sensitive sodium channel".
History.
The first mRNA encoding the alpha subunit of ENaC was isolat... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,490 | zeroshot-train |
SCNN1G [SEP] chromosome | coding sequence human γ subunit was reported by Saxena et al.
Gene structure.
While the human gene SCNN1A is located in chromosome 12p, the human genes encoding SCNN1B and SCNN1G are located in juxtoposition in the short arm of chromosome 16 (16p12-p13). The structures of the human and rat SCNN1G genes were first repor... | SCNN1G
The SCNN1G gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D.
ENaC is expressed in epithelial cells and is dif... | 7,491 | zeroshot-train |
SOD2 [SEP] chromosome | SOD2
Superoxide dismutase 2, mitochondrial (SOD2), also known as manganese-dependent superoxide dismutase (MnSOD), is an enzyme which in humans is encoded by the "SOD2" gene on chromosome 6. A related pseudogene has been identified on chromosome 1. Alternative splicing of this gene results in multiple transcript varian... | species also increased with cellular age, but by a greater amount in SOD2 mutant cells than in wild-type cells. In the fission yeast "Schizosaccharomyces pombe", SOD2 deficiency, drastically increased cellular aging and decreased cell viability in the stationary phase of the growth cycle.
Role in invertebrates.
SOD2's ... | 7,492 | zeroshot-train |
TAS2R16 [SEP] chromosome | TAS2R16
TAS2R16 (taste receptor, type 2, member 16) is a human gene that encodes for a receptor that may play a role in the perception of bitterness.
The TAS2R16 gene is located on the long (q) arm of chromosome 7 at position 31.1 - 31.3, from base pair 122,228,764 to base pair 122,229,639.
Clinical significance.
Varia... | - Integrating fragmented software applications into holistic solutions: focus on drug discovery Yuryev A, Expert Opinion on Drug Discovery, April 2011, 6(4):383-392(10)
- Analysis and construction of pathogenicity island regulatory pathways in Salmonella enterica serovar Typhi Ong SY, Ng FL, Badai SS, Yuryev A, Alam M,... | 7,493 | zeroshot-train |
TMEM260 [SEP] chromosome | TMEM260
TMEM260 is a protein that in humans is encoded by the "TMEM260" gene. The function of TMEM260 is not yet clearly understood. TMEM260 is also known as UPF0679, c14orf101, and FLJ0392.
Gene.
Gene Location.
TMEM260 is located on band 22.3 on the small arm of human chromosome 14. The genomic sequence begins at 56,9... | 15 exons.
Gene Gene neighborhood.
There are four other genes in the neighborhood of TMEM260. Two genes lie upstream of TMEM260, including LINC00520, which is the long intergenic non-protein coding RNA gene 520 gene, and PELI2 which is the pellino E3 ubiquitin protein ligase family member 2 gene. Downstream lies one pse... | 7,494 | zeroshot-train |
ULBP3 [SEP] chromosome | ULBP3
UL16 binding protein 3 (ULBP3) is a cell surface glycoprotein encoded by "ULBP3" gene located on the chromosome 6. ULBP3 is related to MHC class I molecules, but its gene maps outside the MHC locus. The domain structure of ULBP3 differs significantly from those of conventional MHC class I molecules. It does not c... | proteins: MICs (MICA, MICB) and ULBPs (ULBP1, ULBP2, ULBP3, ULBP4, RAET1G, RAET1L).
Other receptors able to bind induced-self antigens are NKG2C, NKG2E, NKG2F (CD94) or some NCRs (e.g. NKp 46 ).
Tumor targeting.
Practical use of the knowledge of induced-self antigens is in targeting tumors for immune response. As tumor... | 7,495 | zeroshot-train |
USP9Y [SEP] chromosome | and male infertility.
The USP9Y gene is found on the azoospermia factor (AZF) region on the Y chromosome. Men who have impaired or no sperm production often have a deletion in the AZF region, especially in the USP9Y gene, and it was thought that USP9Y was necessary for sperm production. However, a man and his father wi... | USP9Y
Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), also known as USP9Y, is an enzyme which in humans is encoded by the "USP9Y" gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiqui... | 7,496 | zeroshot-train |
VE-cadherin [SEP] chromosome | VE-cadherin
Cadherin 5, type 2 or VE-cadherin (vascular endothelial cadherin) also known as CD144 (Cluster of Differentiation 144), is a type of cadherin. It is encoded by the human gene CDH5.
Function.
VE-cadherin is a classical cadherin from the cadherin superfamily and the gene is located in a six-cadherin cluster i... | known to be required for maintaining a restrictive endothelial barrier – early studies using blocking antibodies to VE-cadherin increased monolayer permeability in cultured cells and resulted in interstitial edema and hemorrhage in vivo. A recent study has shown that A20 (which is a dual-ubiquitin editing enzyme) is es... | 7,497 | zeroshot-train |
CD38 [SEP] chromosome | CD38
CD38 (cluster of differentiation 38), also known as cyclic ADP ribose hydrolase is a glycoprotein found on the surface of many immune cells (white blood cells), including CD4, CD8, B lymphocytes and natural killer cells. CD38 also functions in cell adhesion, signal transduction and calcium signaling.
In humans, th... | conditions.
CD38 produces an enzyme which regulates the release of oxytocin within the central nervous system.
Daratumumab which targets CD38 has been used in treating multiple myeloma.
Increased expression of CD38 is an unfavourable diagnostic marker in chronic lymphocytic leukemia and is associated with increased dis... | 7,498 | zeroshot-train |
TM6SF2 [SEP] chromosome | TM6SF2
TM6SF2 is the Transmembrane 6 superfamily 2 human gene which codes for a protein by the same name. This gene is otherwise called KIAA1926. Its exact function is currently unknown.
Location.
TM6SF2 is located on chromosome 19 precisely at locus 19p13.3-p12. It is flanked by SUGP1 (a SURP and G-Patch Domain-Contai... | -protein interactions have been established thus far.
Clinical significance.
In a study that used pre-made kits to predict cardiac allograft rejection using peripheral blood only, graft rejection was associated with decreased levels of TM6SF2 expression, alongside other genes.
A variant TM6SF2 gene causes susceptibilit... | 7,499 | zeroshot-train |
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