psui3905/ncbi_genes_summary huggingface dataset:
B4GALT5, Official Symbol B4GALT5provided by HGNC Official Full Name beta-1,4-galactosyltransferase 5provided by HGNC Primary source HGNC:HGNC:928 See related Ensembl:ENSG00000158470 MIM:604016; AllianceGenome:HGNC:928 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as gt-V; B4Gal-T5; beta4Gal-T5; beta4GalT-V; BETA4-GALT-IV Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 36.1), adrenal (RPKM 25.6) and 24 other tissues See more Orthologs mouse all
B4GALT6, Official Symbol B4GALT6provided by HGNC Official Full Name beta-1,4-galactosyltransferase 6provided by HGNC Primary source HGNC:HGNC:929 See related Ensembl:ENSG00000118276 MIM:604017; AllianceGenome:HGNC:929 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B4Gal-T6; beta4Gal-T6 Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020] Expression Broad expression in adrenal (RPKM 5.6), brain (RPKM 4.9) and 24 other tissues See more Orthologs mouse all
B4GALT7, Official Symbol B4GALT7provided by HGNC Official Full Name beta-1,4-galactosyltransferase 7provided by HGNC Primary source HGNC:HGNC:930 See related Ensembl:ENSG00000027847 MIM:604327; AllianceGenome:HGNC:930 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XGPT; EDSP1; XGPT1; EDSSLA; XGALT1; EDSSPD1 Summary This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 4.7), prostate (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
B4GAT1, Official Symbol B4GAT1provided by HGNC Official Full Name beta-1,4-glucuronyltransferase 1provided by HGNC Primary source HGNC:HGNC:15685 See related Ensembl:ENSG00000174684 MIM:605517; AllianceGenome:HGNC:15685 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as iGAT; iGNT; B3GNT1; B3GNT6; B3GN-T1; MDDGA13; BETA3GNTI Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 72.1), adrenal (RPKM 23.3) and 22 other tissues See more Orthologs mouse all
B9D1, Official Symbol B9D1provided by HGNC Official Full Name B9 domain containing 1provided by HGNC Primary source HGNC:HGNC:24123 See related Ensembl:ENSG00000108641 MIM:614144; AllianceGenome:HGNC:24123 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B9; MKS9; EPPB9; MKSR1; JBTS27; MKSR-1 Summary This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 7.5), testis (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
B9D2, Official Symbol B9D2provided by HGNC Official Full Name B9 domain containing 2provided by HGNC Primary source HGNC:HGNC:28636 See related Ensembl:ENSG00000123810 MIM:611951; AllianceGenome:HGNC:28636 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS10; MKSR2; ICIS-1; JBTS34; MKSR-2 Summary This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
BAALC, Official Symbol BAALCprovided by HGNC Official Full Name BAALC binder of MAP3K1 and KLF4provided by HGNC Primary source HGNC:HGNC:14333 See related Ensembl:ENSG00000164929 MIM:606602; AllianceGenome:HGNC:14333 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 101.5), adrenal (RPKM 7.1) and 1 other tissue See more Orthologs mouse all
BAALC-AS1, Official Symbol BAALC-AS1provided by HGNC Official Full Name BAALC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50461 See related AllianceGenome:HGNC:50461 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FZD6-DT; lncFZD6 Expression Biased expression in brain (RPKM 3.1), testis (RPKM 0.9) and 8 other tissues See more
BAAT, Official Symbol BAATprovided by HGNC Official Full Name bile acid-CoA:amino acid N-acyltransferaseprovided by HGNC Primary source HGNC:HGNC:932 See related Ensembl:ENSG00000136881 MIM:602938; AllianceGenome:HGNC:932 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAT; HCHO; BACAT; BACD1 Summary The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 152.3) See more Orthologs mouse all
BABAM1, Official Symbol BABAM1provided by HGNC Official Full Name BRISC and BRCA1 A complex member 1provided by HGNC Primary source HGNC:HGNC:25008 See related Ensembl:ENSG00000105393 MIM:612766; AllianceGenome:HGNC:25008 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NBA1; HSPC142; MERIT40; C19orf62 Summary Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of DNA repair; and protein K63-linked deubiquitination. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues See more Orthologs mouse all
BABAM2, Official Symbol BABAM2provided by HGNC Official Full Name BRISC and BRCA1 A complex member 2provided by HGNC Primary source HGNC:HGNC:1106 See related Ensembl:ENSG00000158019 MIM:610497; AllianceGenome:HGNC:1106 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BRE; BRCC4; BRCC45 Summary This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in adrenal (RPKM 43.3), heart (RPKM 14.4) and 24 other tissues See more Orthologs mouse all
BACE1, Official Symbol BACE1provided by HGNC Official Full Name beta-secretase 1provided by HGNC Primary source HGNC:HGNC:933 See related Ensembl:ENSG00000186318 MIM:604252; AllianceGenome:HGNC:933 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASP2; BACE; HSPC104 Summary This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in pancreas (RPKM 33.5), brain (RPKM 30.2) and 24 other tissues See more Orthologs mouse all
BACE1-AS, Official Symbol BACE1-ASprovided by HGNC Official Full Name BACE1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:37125 See related MIM:614263; AllianceGenome:HGNC:37125 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BACE1AS; BACE1-AS1; NCRNA00177 Summary This gene encodes an unspliced long non-coding RNA transcribed from the opposite strand to BACE1. The encoded transcript is thought to form an RNA duplex with BACE1 mRNA thereby regulating its expression and is also thought to promote post-transcriptional feed-forward regulation of BACE1. This may lead to increased levels of beta amyloid and increased senile plaque deposition, and therefore may play a role in the pathophysiology of Alzheimer's disease. [provided by RefSeq, Jan 2015]
BACE2, Official Symbol BACE2provided by HGNC Official Full Name beta-secretase 2provided by HGNC Primary source HGNC:HGNC:934 See related Ensembl:ENSG00000182240 MIM:605668; AllianceGenome:HGNC:934 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1 Summary This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in stomach (RPKM 12.5), gall bladder (RPKM 11.8) and 23 other tissues See more Orthologs mouse all
BACH1, Official Symbol BACH1provided by HGNC Official Full Name BTB domain and CNC homolog 1provided by HGNC Primary source HGNC:HGNC:935 See related Ensembl:ENSG00000156273 MIM:602751; AllianceGenome:HGNC:935 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BACH-1; BTBD24 Summary This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009] Annotation information Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018] Expression Ubiquitous expression in bone marrow (RPKM 19.7), placenta (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
BACH1-IT3, Official Symbol BACH1-IT3provided by HGNC Official Full Name BACH1 intronic transcript 3provided by HGNC Primary source HGNC:HGNC:16455 See related Ensembl:ENSG00000234293 AllianceGenome:HGNC:16455 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C21orf8; NCRNA00097
BACH2, Official Symbol BACH2provided by HGNC Official Full Name BTB domain and CNC homolog 2provided by HGNC Primary source HGNC:HGNC:14078 See related Ensembl:ENSG00000112182 MIM:605394; AllianceGenome:HGNC:14078 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMD60; BTBD25 Summary Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 7.1), appendix (RPKM 2.5) and 10 other tissues See more Orthologs mouse all
BAD, Official Symbol BADprovided by HGNC Official Full Name BCL2 associated agonist of cell deathprovided by HGNC Primary source HGNC:HGNC:936 See related Ensembl:ENSG00000002330 MIM:603167; AllianceGenome:HGNC:936 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBC2; BCL2L8 Summary The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019] Expression Ubiquitous expression in colon (RPKM 20.0), fat (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
BAG1, Official Symbol BAG1provided by HGNC Official Full Name BAG cochaperone 1provided by HGNC Primary source HGNC:HGNC:937 See related Ensembl:ENSG00000107262 MIM:601497; AllianceGenome:HGNC:937 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAP; BAG-1; RAP46 Summary The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in kidney (RPKM 19.7), colon (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
BAG2, Official Symbol BAG2provided by HGNC Official Full Name BAG cochaperone 2provided by HGNC Primary source HGNC:HGNC:938 See related Ensembl:ENSG00000112208 MIM:603882; AllianceGenome:HGNC:938 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAG-2; dJ417I1.2 Summary BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 20.1), urinary bladder (RPKM 13.7) and 21 other tissues See more Orthologs mouse all
BAG3, Official Symbol BAG3provided by HGNC Official Full Name BAG cochaperone 3provided by HGNC Primary source HGNC:HGNC:939 See related Ensembl:ENSG00000151929 MIM:603883; AllianceGenome:HGNC:939 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIS; MFM6; BAG-3; CAIR-1 Summary BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 32.6), placenta (RPKM 26.6) and 25 other tissues See more Orthologs mouse all
BAG4, Official Symbol BAG4provided by HGNC Official Full Name BAG cochaperone 4provided by HGNC Primary source HGNC:HGNC:940 See related Ensembl:ENSG00000156735 MIM:603884; AllianceGenome:HGNC:940 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SODD; BAG-4 Summary The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in brain (RPKM 11.2), bone marrow (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
BAG5, Official Symbol BAG5provided by HGNC Official Full Name BAG cochaperone 5provided by HGNC Primary source HGNC:HGNC:941 See related Ensembl:ENSG00000166170 MIM:603885; AllianceGenome:HGNC:941 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAG-5; CMD2F Summary The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 41.2), thyroid (RPKM 15.2) and 24 other tissues See more Orthologs mouse all
BAG6, Official Symbol BAG6provided by HGNC Official Full Name BAG cochaperone 6provided by HGNC Primary source HGNC:HGNC:13919 See related Ensembl:ENSG00000204463 MIM:142590; AllianceGenome:HGNC:13919 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G3; BAT3; BAG-6; D6S52E Summary This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 77.2), spleen (RPKM 25.1) and 25 other tissues See more Orthologs mouse all
BAHCC1, Official Symbol BAHCC1provided by HGNC Official Full Name BAH domain and coiled-coil containing 1provided by HGNC Primary source HGNC:HGNC:29279 See related Ensembl:ENSG00000266074 MIM:617646; AllianceGenome:HGNC:29279 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAHD2 Summary Predicted to enable chromatin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 2.7), prostate (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
BAHD1, Official Symbol BAHD1provided by HGNC Official Full Name bromo adjacent homology domain containing 1provided by HGNC Primary source HGNC:HGNC:29153 See related Ensembl:ENSG00000140320 MIM:613880; AllianceGenome:HGNC:29153 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables chromatin binding activity. Involved in heterochromatin assembly and negative regulation of transcription, DNA-templated. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.0), ovary (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
BAIAP2, Official Symbol BAIAP2provided by HGNC Official Full Name BAR/IMD domain containing adaptor protein 2provided by HGNC Primary source HGNC:HGNC:947 See related Ensembl:ENSG00000175866 MIM:605475; AllianceGenome:HGNC:947 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAP2; WAML; FLAF3; IRSP53 Summary The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] Expression Broad expression in brain (RPKM 10.7), skin (RPKM 9.8) and 23 other tissues See more Orthologs mouse all
BAIAP2-DT, Official Symbol BAIAP2-DTprovided by HGNC Official Full Name BAIAP2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:44342 See related Ensembl:ENSG00000226137 AllianceGenome:HGNC:44342 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAIAP2-AS1; lnc-BAIAP2 Expression Ubiquitous expression in brain (RPKM 9.6), lung (RPKM 7.0) and 23 other tissues See more
BAIAP2L1, Official Symbol BAIAP2L1provided by HGNC Official Full Name BAR/IMD domain containing adaptor protein 2 like 1provided by HGNC Primary source HGNC:HGNC:21649 See related Ensembl:ENSG00000006453 MIM:611877; AllianceGenome:HGNC:21649 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRTKS Summary This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] Expression Broad expression in stomach (RPKM 26.9), colon (RPKM 14.1) and 19 other tissues See more Orthologs mouse all
BAIAP2L2, Official Symbol BAIAP2L2provided by HGNC Official Full Name BAR/IMD domain containing adaptor protein 2 like 2provided by HGNC Primary source HGNC:HGNC:26203 See related Ensembl:ENSG00000128298 MIM:617536; AllianceGenome:HGNC:26203 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] Expression Biased expression in duodenum (RPKM 28.1), small intestine (RPKM 24.8) and 4 other tissues See more Orthologs mouse all
BAIAP3, Official Symbol BAIAP3provided by HGNC Official Full Name BAI1 associated protein 3provided by HGNC Primary source HGNC:HGNC:948 See related Ensembl:ENSG00000007516 MIM:604009; AllianceGenome:HGNC:948 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAP3 Summary This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Broad expression in adrenal (RPKM 9.7), brain (RPKM 8.5) and 19 other tissues See more Orthologs mouse all
BAK1, Official Symbol BAK1provided by HGNC Official Full Name BCL2 antagonist/killer 1provided by HGNC Primary source HGNC:HGNC:949 See related Ensembl:ENSG00000030110 MIM:600516; AllianceGenome:HGNC:949 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAK; CDN1; BCL2L7; BAK-LIKE Summary The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 20.6), small intestine (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
BAMBI, Official Symbol BAMBIprovided by HGNC Official Full Name BMP and activin membrane bound inhibitorprovided by HGNC Primary source HGNC:HGNC:30251 See related Ensembl:ENSG00000095739 MIM:604444; AllianceGenome:HGNC:30251 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NMA Summary This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 40.8), adrenal (RPKM 26.5) and 15 other tissues See more Orthologs mouse all
BANCR, Official Symbol BANCRprovided by HGNC Official Full Name BRAF-activated non-protein coding RNAprovided by HGNC Primary source HGNC:HGNC:43877 See related Ensembl:ENSG00000278910 MIM:619589; AllianceGenome:HGNC:43877 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC00586 Summary This gene produces a long non-coding RNA that plays a role in tumor progression and epithelial to mesenchymal transition. This transcript acts through the MAP kinase signaling pathway. [provided by RefSeq, Dec 2017] Expression Biased expression in heart (RPKM 8.5), lung (RPKM 0.8) and 1 other tissue See more
BANF1, Official Symbol BANF1provided by HGNC Official Full Name BAF nuclear assembly factor 1provided by HGNC Primary source HGNC:HGNC:17397 See related Ensembl:ENSG00000175334 MIM:603811; AllianceGenome:HGNC:17397 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAF; NGPS; BCRP1; D14S1460 Summary The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in endometrium (RPKM 38.4), ovary (RPKM 38.3) and 25 other tissues See more Orthologs mouse all
BANF1P2, Official Symbol BANF1P2provided by HGNC Official Full Name BANF1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:23426 See related AllianceGenome:HGNC:23426 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BANF1L1; bA122K13.8
BANF2, Official Symbol BANF2provided by HGNC Official Full Name BANF family member 2provided by HGNC Primary source HGNC:HGNC:16172 See related Ensembl:ENSG00000125888 AllianceGenome:HGNC:16172 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAF2; BAFL; BAF-L; C20orf179 Summary Enables identical protein binding activity. Predicted to be involved in chromosome condensation and chromosome segregation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 14.5) See more Orthologs mouse all
BANK1, Official Symbol BANK1provided by HGNC Official Full Name B cell scaffold protein with ankyrin repeats 1provided by HGNC Primary source HGNC:HGNC:18233 See related Ensembl:ENSG00000153064 MIM:610292; AllianceGenome:HGNC:18233 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BANK Summary The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Biased expression in lymph node (RPKM 39.0), spleen (RPKM 27.4) and 8 other tissues See more Orthologs mouse all
BANP, Official Symbol BANPprovided by HGNC Official Full Name BTG3 associated nuclear proteinprovided by HGNC Primary source HGNC:HGNC:13450 See related Ensembl:ENSG00000172530 MIM:611564; AllianceGenome:HGNC:13450 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BEND1; SMAR1; SMARBP1 Summary This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in testis (RPKM 1.3), spleen (RPKM 1.1) and 25 other tissues See more Orthologs mouse all
BAP1, Official Symbol BAP1provided by HGNC Official Full Name BRCA1 associated protein 1provided by HGNC Primary source HGNC:HGNC:950 See related Ensembl:ENSG00000163930 MIM:603089; AllianceGenome:HGNC:950 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBM2; UVM2; KURIS; TPDS1; UCHL2; hucep-6; HUCEP-13 Summary This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 47.8), skin (RPKM 26.6) and 25 other tissues See more Orthologs mouse all
BARD1, Official Symbol BARD1provided by HGNC Official Full Name BRCA1 associated RING domain 1provided by HGNC Primary source HGNC:HGNC:952 See related Ensembl:ENSG00000138376 MIM:601593; AllianceGenome:HGNC:952 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Broad expression in testis (RPKM 4.0), bone marrow (RPKM 3.8) and 24 other tissues See more Orthologs mouse all
BARHL1, Official Symbol BARHL1provided by HGNC Official Full Name BarH like homeobox 1provided by HGNC Primary source HGNC:HGNC:953 See related Ensembl:ENSG00000125492 MIM:605211; AllianceGenome:HGNC:953 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of neuron apoptotic process; nervous system development; and sensory perception of sound. Predicted to be part of chromatin. Predicted to be active in nucleus. Biomarker of Alzheimer's disease; high grade glioma; and triple-receptor negative breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BARHL2, Official Symbol BARHL2provided by HGNC Official Full Name BarH like homeobox 2provided by HGNC Primary source HGNC:HGNC:954 See related Ensembl:ENSG00000143032 MIM:605212; AllianceGenome:HGNC:954 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; positive regulation of macromolecule biosynthetic process; and regulation of axon extension. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in oral squamous cell carcinoma. Biomarker of colorectal cancer; oral squamous cell carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.8) See more Orthologs mouse all
BARX1, Official Symbol BARX1provided by HGNC Official Full Name BARX homeobox 1provided by HGNC Primary source HGNC:HGNC:955 See related Ensembl:ENSG00000131668 MIM:603260; AllianceGenome:HGNC:955 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 5.0), testis (RPKM 0.6) and 1 other tissue See more Orthologs mouse all