psui3905/ncbi_genes_summary huggingface dataset:
BOD1L1, Official Symbol BOD1L1provided by HGNC Official Full Name biorientation of chromosomes in cell division 1 like 1provided by HGNC Primary source HGNC:HGNC:31792 See related Ensembl:ENSG00000038219 MIM:616746; AllianceGenome:HGNC:31792 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 BOD1L; FAM44A Summary Predicted to enable protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in cellular response to DNA damage stimulus and replication fork processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.2), testis (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
BOD1L2, Official Symbol BOD1L2provided by HGNC Official Full Name biorientation of chromosomes in cell division 1 like 2provided by HGNC Primary source HGNC:HGNC:28505 See related Ensembl:ENSG00000228075 AllianceGenome:HGNC:28505 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 BOD1P; FAM44C Summary Predicted to enable protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Predicted to be involved in negative regulation of phosphoprotein phosphatase activity. Predicted to be located in cytoplasm. Predicted to be part of outer kinetochore. Predicted to be active in centrosome; spindle microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
BOD1P1, Official Symbol BOD1P1provided by HGNC Official Full Name biorientation of chromosomes in cell division 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51435 See related AllianceGenome:HGNC:51435 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BOK, Official Symbol BOKprovided by HGNC Official Full Name BCL2 family apoptosis regulator BOKprovided by HGNC Primary source HGNC:HGNC:1087 See related Ensembl:ENSG00000176720 MIM:605404; AllianceGenome:HGNC:1087 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 BOKL; BCL2L9 Summary The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011] Expression Broad expression in fat (RPKM 69.1), liver (RPKM 18.4) and 16 other tissues See more Orthologs mouse all
BOLA1, Official Symbol BOLA1provided by HGNC Official Full Name bolA family member 1provided by HGNC Primary source HGNC:HGNC:24263 See related Ensembl:ENSG00000178096 MIM:613181; AllianceGenome:HGNC:24263 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 CGI-143 Summary Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 5.6), fat (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
BOLA2, Official Symbol BOLA2provided by HGNC Official Full Name bolA family member 2provided by HGNC Primary source HGNC:HGNC:29488 See related Ensembl:ENSG00000183336 MIM:613182; AllianceGenome:HGNC:29488 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 My016; BOLA2A; BOLA2B Summary This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in duodenum (RPKM 26.2), small intestine (RPKM 23.0) and 25 other tissues See more Orthologs all
BOLA2-SMG1P6, Official Symbol BOLA2-SMG1P6provided by HGNC Official Full Name BOLA2-SMG1P6 readthroughprovided by HGNC Primary source HGNC:HGNC:53563 See related AllianceGenome:HGNC:53563 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 This gene represents naturally-occurring readthrough transcription between the upstream BOLA2 (bolA family member 2) and downstream SMG1 pseudogene 6 (SMG1P6) loci. Alternative splicing results in multiple transcript variants, some of which may encode proteins with an N-terminus similar to BOLA2 and a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in bone marrow (RPKM 25.1), duodenum (RPKM 18.0) and 25 other tissues See more
BOLA2B, Official Symbol BOLA2Bprovided by HGNC Official Full Name bolA family member 2Bprovided by HGNC Primary source HGNC:HGNC:32479 See related Ensembl:ENSG00000169627 AllianceGenome:HGNC:32479 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 BOLA2 Summary This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in duodenum (RPKM 28.0), small intestine (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
BOLA2P2, Official Symbol BOLA2P2provided by HGNC Official Full Name bolA family member 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51438 See related Ensembl:ENSG00000271161 AllianceGenome:HGNC:51438 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BOLA2P3, Official Symbol BOLA2P3provided by HGNC Official Full Name bolA family member 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51439 See related Ensembl:ENSG00000220771 AllianceGenome:HGNC:51439 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BOLA3, Official Symbol BOLA3provided by HGNC Official Full Name bolA family member 3provided by HGNC Primary source HGNC:HGNC:24415 See related Ensembl:ENSG00000163170 MIM:613183; AllianceGenome:HGNC:24415 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 MMDS2 Summary This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
BOLA3P4, Official Symbol BOLA3P4provided by HGNC Official Full Name bolA family member 3 pseudogene 4provided by HGNC Primary source HGNC:HGNC:51443 See related Ensembl:ENSG00000223807 AllianceGenome:HGNC:51443 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BOLL, Official Symbol BOLLprovided by HGNC Official Full Name boule homolog, RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:14273 See related Ensembl:ENSG00000152430 MIM:606165; AllianceGenome:HGNC:14273 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 BOULE Summary This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 22.5) See more Orthologs mouse all
BOP1, Official Symbol BOP1provided by HGNC Official Full Name BOP1 ribosomal biogenesis factorprovided by HGNC Primary source HGNC:HGNC:15519 See related Ensembl:ENSG00000261236 MIM:610596; AllianceGenome:HGNC:15519 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 RNA binding activity. Involved in regulation of cell cycle; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. Part of PeBoW complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.2), appendix (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
BORA, Official Symbol BORAprovided by HGNC Official Full Name BORA aurora kinase A activatorprovided by HGNC Primary source HGNC:HGNC:24724 See related Ensembl:ENSG00000136122 MIM:610510; AllianceGenome:HGNC:24724 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 C13orf34 Summary BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in lymph node (RPKM 4.2), appendix (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
BORCS5, Official Symbol BORCS5provided by HGNC Official Full Name BLOC-1 related complex subunit 5provided by HGNC Primary source HGNC:HGNC:17950 See related Ensembl:ENSG00000165714 MIM:616598; AllianceGenome:HGNC:17950 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 LOH12CR1; LOH1CR12 Summary Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane and plasma membrane. Is intrinsic component of membrane. Part of BORC complex. Colocalizes with plus-end kinesin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.1), bone marrow (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
BORCS6, Official Symbol BORCS6provided by HGNC Official Full Name BLOC-1 related complex subunit 6provided by HGNC Primary source HGNC:HGNC:25939 See related Ensembl:ENSG00000196544 MIM:616599; AllianceGenome:HGNC:25939 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 PRO2472; C17orf59 Summary Enables identical protein binding activity. Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
BORCS7, Official Symbol BORCS7provided by HGNC Official Full Name BLOC-1 related complex subunit 7provided by HGNC Primary source HGNC:HGNC:23516 See related Ensembl:ENSG00000166275 MIM:616600; AllianceGenome:HGNC:23516 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 C10orf32 Summary Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues See more Orthologs mouse all
BORCS8, Official Symbol BORCS8provided by HGNC Official Full Name BLOC-1 related complex subunit 8provided by HGNC Primary source HGNC:HGNC:37247 See related Ensembl:ENSG00000254901 MIM:616601; AllianceGenome:HGNC:37247 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 MEF2BNB Summary Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 4.9), kidney (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
BPESC1, Official Symbol BPESC1provided by HGNC Official Full Name blepharophimosis, epicanthus inversus and ptosis candidate 1provided by HGNC Primary source HGNC:HGNC:13228 See related Ensembl:ENSG00000232416 MIM:618995; AllianceGenome:HGNC:13228 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 NCRNA00187 Expression Low expression observed in reference dataset See more
BPGM, Official Symbol BPGMprovided by HGNC Official Full Name bisphosphoglycerate mutaseprovided by HGNC Primary source HGNC:HGNC:1093 See related Ensembl:ENSG00000172331 MIM:613896; AllianceGenome:HGNC:1093 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 DPGM; ECYT8 Summary 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] Expression Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues See more Orthologs mouse all
BPHL, Official Symbol BPHLprovided by HGNC Official Full Name biphenyl hydrolase likeprovided by HGNC Primary source HGNC:HGNC:1094 See related Ensembl:ENSG00000137274 MIM:603156; AllianceGenome:HGNC:1094 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 MCNAA; BPH-RP; VACVASE Summary This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] Expression Broad expression in kidney (RPKM 36.5), liver (RPKM 16.0) and 19 other tissues See more Orthologs mouse all
BPI, Official Symbol BPIprovided by HGNC Official Full Name bactericidal permeability increasing proteinprovided by HGNC Primary source HGNC:HGNC:1095 See related Ensembl:ENSG00000101425 MIM:109195; AllianceGenome:HGNC:1095 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 rBPI; BPIFD1 Summary This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014] Expression Restricted expression toward bone marrow (RPKM 549.1) See more Orthologs mouse all
BPIFA1, Official Symbol BPIFA1provided by HGNC Official Full Name BPI fold containing family A member 1provided by HGNC Primary source HGNC:HGNC:15749 See related Ensembl:ENSG00000198183 MIM:607412; AllianceGenome:HGNC:15749 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 LUNX; NASG; PLUNC; SPURT; SPLUNC1; bA49G10.5 Summary This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014] Expression Biased expression in lung (RPKM 1.2), urinary bladder (RPKM 0.9) and 2 other tissues See more Orthologs mouse all
BPIFA2, Official Symbol BPIFA2provided by HGNC Official Full Name BPI fold containing family A member 2provided by HGNC Primary source HGNC:HGNC:16203 See related Ensembl:ENSG00000131050 AllianceGenome:HGNC:16203 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 PSP; SPLUNC2; C20orf70; bA49G10.1 Summary This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Restricted expression toward salivary gland (RPKM 1129.7) See more Orthologs mouse all
BPIFA3, Official Symbol BPIFA3provided by HGNC Official Full Name BPI fold containing family A member 3provided by HGNC Primary source HGNC:HGNC:16204 See related Ensembl:ENSG00000131059 AllianceGenome:HGNC:16204 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 SPLUNC3; C20orf71 Summary Predicted to enable lipid binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 31.7) See more Orthologs mouse all
BPIFB1, Official Symbol BPIFB1provided by HGNC Official Full Name BPI fold containing family B member 1provided by HGNC Primary source HGNC:HGNC:16108 See related Ensembl:ENSG00000125999 AllianceGenome:HGNC:16108 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 LPLUNC1; C20orf114 Summary The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 277.8), lung (RPKM 49.9) and 2 other tissues See more Orthologs mouse all
BPIFB2, Official Symbol BPIFB2provided by HGNC Official Full Name BPI fold containing family B member 2provided by HGNC Primary source HGNC:HGNC:16177 See related Ensembl:ENSG00000078898 MIM:614108; AllianceGenome:HGNC:16177 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 RYSR; BPIL1; LPLUNC2; C20orf184; dJ726C3.2 Summary This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 49.9) and esophagus (RPKM 45.9) See more Orthologs mouse all
BPIFB3, Official Symbol BPIFB3provided by HGNC Official Full Name BPI fold containing family B member 3provided by HGNC Primary source HGNC:HGNC:16178 See related Ensembl:ENSG00000186190 MIM:615717; AllianceGenome:HGNC:16178 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 RYA3; LPLUNC3; C20orf185 Summary Predicted to enable lipid binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BPIFB4, Official Symbol BPIFB4provided by HGNC Official Full Name BPI fold containing family B member 4provided by HGNC Primary source HGNC:HGNC:16179 See related Ensembl:ENSG00000186191 MIM:615718; AllianceGenome:HGNC:16179 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 RY2G5; LPLUNC4; C20orf186; dJ726C3.5 Summary Predicted to enable lipid binding activity. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BPIFB5P, Official Symbol BPIFB5Pprovided by HGNC Official Full Name BPI fold containing family B member 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:42177 See related Ensembl:ENSG00000233146 AllianceGenome:HGNC:42177 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BPIFB6, Official Symbol BPIFB6provided by HGNC Official Full Name BPI fold containing family B member 6provided by HGNC Primary source HGNC:HGNC:16504 See related Ensembl:ENSG00000167104 MIM:614110; AllianceGenome:HGNC:16504 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 BPIL3; LPLUNC6 Summary Predicted to enable lipid binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BPIFB9P, Official Symbol BPIFB9Pprovided by HGNC Official Full Name BPI fold containing family B member 9, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16109 See related Ensembl:ENSG00000125997 AllianceGenome:HGNC:16109 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 C20orf115; dJ1187J4.2; dJ1187J4.3
BPIFC, Official Symbol BPIFCprovided by HGNC Official Full Name BPI fold containing family Cprovided by HGNC Primary source HGNC:HGNC:16503 See related Ensembl:ENSG00000184459 MIM:614109; AllianceGenome:HGNC:16503 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 BPIL2 Summary Predicted to enable lipid binding activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 18.4) See more Orthologs mouse all
BPNT1, Official Symbol BPNT1provided by HGNC Official Full Name 3'(2'), 5'-bisphosphate nucleotidase 1provided by HGNC Primary source HGNC:HGNC:1096 See related Ensembl:ENSG00000162813 MIM:604053; AllianceGenome:HGNC:1096 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 PIP; HEL20 Summary BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 11.4), duodenum (RPKM 10.5) and 24 other tissues See more Orthologs mouse all
BPNT2, Official Symbol BPNT2provided by HGNC Official Full Name 3'(2'), 5'-bisphosphate nucleotidase 2provided by HGNC Primary source HGNC:HGNC:26019 See related Ensembl:ENSG00000104331 MIM:614010; AllianceGenome:HGNC:26019 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 GPAPP; IMP 3; IMP-3; IMPA3; IMPAD1 Summary This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in fat (RPKM 26.8), adrenal (RPKM 24.2) and 25 other tissues See more Orthologs mouse all
BPTF, Official Symbol BPTFprovided by HGNC Official Full Name bromodomain PHD finger transcription factorprovided by HGNC Primary source HGNC:HGNC:3581 See related Ensembl:ENSG00000171634 MIM:601819; AllianceGenome:HGNC:3581 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 FAC1; FALZ; NEDDFL; NURF301 Summary This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
BPTFP1, Official Symbol BPTFP1provided by HGNC Official Full Name bromodomain PHD finger transcription factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:52869 See related Ensembl:ENSG00000263647 AllianceGenome:HGNC:52869 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BPY2, Official Symbol BPY2provided by HGNC Official Full Name basic charge Y-linked 2provided by HGNC Primary source HGNC:HGNC:13508 See related Ensembl:ENSG00000183753 MIM:400013; AllianceGenome:HGNC:13508 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 VCY2; BPY2A; VCY2A Summary This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]
BPY2B, Official Symbol BPY2Bprovided by HGNC Official Full Name basic charge Y-linked 2Bprovided by HGNC Primary source HGNC:HGNC:25449 See related Ensembl:ENSG00000183795 AllianceGenome:HGNC:25449 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 VCY2B Summary This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]
BPY2C, Official Symbol BPY2Cprovided by HGNC Official Full Name basic charge Y-linked 2Cprovided by HGNC Primary source HGNC:HGNC:18225 See related Ensembl:ENSG00000185894 AllianceGenome:HGNC:18225 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 VCY2C Summary This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]
BRAF, Official Symbol BRAFprovided by HGNC Official Full Name B-Raf proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:1097 See related Ensembl:ENSG00000157764 MIM:164757; AllianceGenome:HGNC:1097 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 NS7; B-raf; BRAF1; RAFB1; B-RAF1; BRAF-1 Summary This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 6.6), brain (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
BRAFP1, Official Symbol BRAFP1provided by HGNC Official Full Name BRAF pseudogene 1provided by HGNC Primary source HGNC:HGNC:18615 See related Ensembl:ENSG00000224775 MIM:300956; AllianceGenome:HGNC:18615 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 BRAF2; BRAFPS2
BRAP, Official Symbol BRAPprovided by HGNC Official Full Name BRCA1 associated proteinprovided by HGNC Primary source HGNC:HGNC:1099 See related Ensembl:ENSG00000089234 MIM:604986; AllianceGenome:HGNC:1099 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 IMP; BRAP2; RNF52 Summary The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] Annotation information Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018] Expression Broad expression in testis (RPKM 24.8), bone marrow (RPKM 8.8) and 24 other tissues See more Orthologs mouse all
BRAT1, Official Symbol BRAT1provided by HGNC Official Full Name BRCA1 associated ATM activator 1provided by HGNC Primary source HGNC:HGNC:21701 See related Ensembl:ENSG00000106009 MIM:614506; AllianceGenome:HGNC:21701 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 BAAT1; RMFSL; NEDCAS; C7orf27 Summary The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in testis (RPKM 8.5), spleen (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
BRCA1, Official Symbol BRCA1provided by HGNC Official Full Name BRCA1 DNA repair associatedprovided by HGNC Primary source HGNC:HGNC:1100 See related Ensembl:ENSG00000012048 MIM:113705; AllianceGenome:HGNC:1100 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 IRIS; PSCP; BRCAI; BRCC1; FANCS; PNCA4; RNF53; BROVCA1; PPP1R53 Summary This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020] Expression Broad expression in testis (RPKM 5.2), lymph node (RPKM 3.3) and 23 other tissues See more Orthologs mouse all
BRCA1P1, Official Symbol BRCA1P1provided by HGNC Official Full Name BRCA1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:28470 See related AllianceGenome:HGNC:28470 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 LBRCA1; PsiBRCA1; pseudo-BRCA1
BRCA2, Official Symbol BRCA2provided by HGNC Official Full Name BRCA2 DNA repair associatedprovided by HGNC Primary source HGNC:HGNC:1101 See related Ensembl:ENSG00000139618 MIM:600185; AllianceGenome:HGNC:1101 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 FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2 Summary Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020] Expression Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues See more Orthologs mouse all
BRCC3, Official Symbol BRCC3provided by HGNC Official Full Name BRCA1/BRCA2-containing complex subunit 3provided by HGNC Primary source HGNC:HGNC:24185 See related Ensembl:ENSG00000185515 MIM:300617; AllianceGenome:HGNC:24185 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 C6.1A; BRCC36; CXorf53 Summary This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in colon (RPKM 4.9), esophagus (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
BRCC3P1, Official Symbol BRCC3P1provided by HGNC Official Full Name BRCA1/BRCA2-containing complex subunit 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51444 See related Ensembl:ENSG00000251667 AllianceGenome:HGNC:51444 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRD1, Official Symbol BRD1provided by HGNC Official Full Name bromodomain containing 1provided by HGNC Primary source HGNC:HGNC:1102 See related Ensembl:ENSG00000100425 MIM:604589; AllianceGenome:HGNC:1102 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 BRL; BRPF1; BRPF2 Summary This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] Expression Broad expression in testis (RPKM 11.6), bone marrow (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
BRD2, Official Symbol BRD2provided by HGNC Official Full Name bromodomain containing 2provided by HGNC Primary source HGNC:HGNC:1103 See related Ensembl:ENSG00000204256 MIM:601540; AllianceGenome:HGNC:1103 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 FSH; NAT; RNF3; FSRG1; RING3; FSHRG1; D6S113E; O27.1.1; BRD2-IT1 Summary This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in bone marrow (RPKM 74.5), thyroid (RPKM 55.5) and 25 other tissues See more Orthologs mouse all
BRD3, Official Symbol BRD3provided by HGNC Official Full Name bromodomain containing 3provided by HGNC Primary source HGNC:HGNC:1104 See related Ensembl:ENSG00000169925 MIM:601541; AllianceGenome:HGNC:1104 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 ORFX; FSHRG2; RING3L Summary This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 8.0), brain (RPKM 7.5) and 25 other tissues See more Orthologs mouse all