psui3905/ncbi_genes_summary huggingface dataset:
BCHE, Official Symbol BCHEprovided by HGNC Official Full Name butyrylcholinesteraseprovided by HGNC Primary source HGNC:HGNC:983 See related Ensembl:ENSG00000114200 MIM:177400; AllianceGenome:HGNC:983 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 E1; CHE1; CHE2; BCHED Summary This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016] Expression Biased expression in liver (RPKM 60.4), brain (RPKM 16.9) and 12 other tissues See more Orthologs mouse all
BCKDHA, Official Symbol BCKDHAprovided by HGNC Official Full Name branched chain keto acid dehydrogenase E1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:986 See related Ensembl:ENSG00000248098 MIM:608348; AllianceGenome:HGNC:986 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 MSU; MSUD1; OVD1A; BCKDE1A Summary The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in heart (RPKM 29.4), kidney (RPKM 27.9) and 25 other tissues See more Orthologs mouse all
BCKDHB, Official Symbol BCKDHBprovided by HGNC Official Full Name branched chain keto acid dehydrogenase E1 subunit betaprovided by HGNC Primary source HGNC:HGNC:987 See related Ensembl:ENSG00000083123 MIM:248611; AllianceGenome:HGNC:987 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 E1B; OVD1B; BCKDE1B; BCKDH E1-beta Summary This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in liver (RPKM 2.7), fat (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
BCKDK, Official Symbol BCKDKprovided by HGNC Official Full Name branched chain keto acid dehydrogenase kinaseprovided by HGNC Primary source HGNC:HGNC:16902 See related Ensembl:ENSG00000103507 MIM:614901; AllianceGenome:HGNC:16902 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 BDK; BCKDKD Summary The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in kidney (RPKM 12.8), heart (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
BCL10, Official Symbol BCL10provided by HGNC Official Full Name BCL10 immune signaling adaptorprovided by HGNC Primary source HGNC:HGNC:989 See related Ensembl:ENSG00000142867 MIM:603517; AllianceGenome:HGNC:989 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 CLAP; mE10; CIPER; IMD37; c-E10; CARMEN Summary This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in colon (RPKM 9.9), gall bladder (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
BCL11A, Official Symbol BCL11Aprovided by HGNC Official Full Name BCL11 transcription factor Aprovided by HGNC Primary source HGNC:HGNC:13221 See related Ensembl:ENSG00000119866 MIM:606557; AllianceGenome:HGNC:13221 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 EVI9; CTIP1; DILOS; ZNF856; HBFQTL5; SMARCM1 Summary This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in skin (RPKM 2.8), lymph node (RPKM 2.2) and 17 other tissues See more Orthologs mouse all
BCL11B, Official Symbol BCL11Bprovided by HGNC Official Full Name BCL11 transcription factor Bprovided by HGNC Primary source HGNC:HGNC:13222 See related Ensembl:ENSG00000127152 MIM:606558; AllianceGenome:HGNC:13222 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 ATL1; RIT1; CTIP2; IMD49; CTIP-2; IDDFSTA; SMARCM2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha Summary This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Expression Biased expression in skin (RPKM 7.8), lymph node (RPKM 5.6) and 13 other tissues See more Orthologs mouse all
BCL2, Official Symbol BCL2provided by HGNC Official Full Name BCL2 apoptosis regulatorprovided by HGNC Primary source HGNC:HGNC:990 See related Ensembl:ENSG00000171791 MIM:151430; AllianceGenome:HGNC:990 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 Bcl-2; PPP1R50 Summary This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in thyroid (RPKM 21.9), spleen (RPKM 9.1) and 20 other tissues See more Orthologs mouse all
BCL2A1, Official Symbol BCL2A1provided by HGNC Official Full Name BCL2 related protein A1provided by HGNC Primary source HGNC:HGNC:991 See related Ensembl:ENSG00000140379 MIM:601056; AllianceGenome:HGNC:991 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 GRS; ACC1; ACC2; BFL1; ACC-1; ACC-2; HBPA1; BCL2L5 Summary This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 133.6), appendix (RPKM 46.2) and 4 other tissues See more Orthologs all
BCL2L1, Official Symbol BCL2L1provided by HGNC Official Full Name BCL2 like 1provided by HGNC Primary source HGNC:HGNC:992 See related Ensembl:ENSG00000171552 MIM:600039; AllianceGenome:HGNC:992 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 BCLX; BCL2L; Bcl-X; PPP1R52; BCL-XL/S Summary The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in bone marrow (RPKM 33.2), kidney (RPKM 32.4) and 25 other tissues See more Orthologs mouse all
BCL2L1-AS1, Official Symbol BCL2L1-AS1provided by HGNC Official Full Name BCL2L1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40095 See related AllianceGenome:HGNC:40095 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
BCL2L10, Official Symbol BCL2L10provided by HGNC Official Full Name BCL2 like 10provided by HGNC Primary source HGNC:HGNC:993 See related Ensembl:ENSG00000137875 MIM:606910; AllianceGenome:HGNC:993 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 Boo; Diva; BCL-B; bcl2-L-10 Summary The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 2.0), kidney (RPKM 1.9) and 15 other tissues See more Orthologs mouse all
BCL2L11, Official Symbol BCL2L11provided by HGNC Official Full Name BCL2 like 11provided by HGNC Primary source HGNC:HGNC:994 See related Ensembl:ENSG00000153094 MIM:603827; AllianceGenome:HGNC:994 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 BAM; BIM; BOD Summary The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in lymph node (RPKM 7.9), thyroid (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
BCL2L12, Official Symbol BCL2L12provided by HGNC Official Full Name BCL2 like 12provided by HGNC Primary source HGNC:HGNC:13787 See related Ensembl:ENSG00000126453 MIM:610837; AllianceGenome:HGNC:13787 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 a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in lymph node (RPKM 7.1), spleen (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
BCL2L12P1, Official Symbol BCL2L12P1provided by HGNC Official Full Name BCL2 like 12 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51327 See related Ensembl:ENSG00000248530 AllianceGenome:HGNC:51327 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCL2L13, Official Symbol BCL2L13provided by HGNC Official Full Name BCL2 like 13provided by HGNC Primary source HGNC:HGNC:17164 See related Ensembl:ENSG00000099968 MIM:619822; AllianceGenome:HGNC:17164 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 MIL1; BCL-RAMBO; Bcl2-L-13 Summary This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in fat (RPKM 9.5), adrenal (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
BCL2L14, Official Symbol BCL2L14provided by HGNC Official Full Name BCL2 like 14provided by HGNC Primary source HGNC:HGNC:16657 See related Ensembl:ENSG00000121380 MIM:606126; AllianceGenome:HGNC:16657 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 BCLG Summary The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in testis (RPKM 9.1), duodenum (RPKM 7.7) and 10 other tissues See more Orthologs mouse all
BCL2L15, Official Symbol BCL2L15provided by HGNC Official Full Name BCL2 like 15provided by HGNC Primary source HGNC:HGNC:33624 See related Ensembl:ENSG00000188761 MIM:619660; AllianceGenome:HGNC:33624 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 Bfk; C1orf178 Summary Predicted to be involved in apoptotic process and regulation of apoptotic process. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 22.4), small intestine (RPKM 18.2) and 5 other tissues See more Orthologs mouse all
BCL2L2, Official Symbol BCL2L2provided by HGNC Official Full Name BCL2 like 2provided by HGNC Primary source HGNC:HGNC:995 See related Ensembl:ENSG00000129473 MIM:601931; AllianceGenome:HGNC:995 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 BCLW; BCL-W; PPP1R51; BCL2-L-2 Summary This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in brain (RPKM 35.0), fat (RPKM 31.5) and 25 other tissues See more Orthologs all
BCL2L2-PABPN1, Official Symbol BCL2L2-PABPN1provided by HGNC Official Full Name BCL2L2-PABPN1 readthroughprovided by HGNC Primary source HGNC:HGNC:42959 See related Ensembl:ENSG00000258643 AllianceGenome:HGNC:42959 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 locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 56.2), prostate (RPKM 46.1) and 25 other tissues See more Orthologs all
BCL3, Official Symbol BCL3provided by HGNC Official Full Name BCL3 transcription coactivatorprovided by HGNC Primary source HGNC:HGNC:998 See related Ensembl:ENSG00000069399 MIM:109560; AllianceGenome:HGNC:998 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 BCL4; D19S37 Summary This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 8.4), small intestine (RPKM 7.7) and 24 other tissues See more Orthologs mouse all
BCL6, Official Symbol BCL6provided by HGNC Official Full Name BCL6 transcription repressorprovided by HGNC Primary source HGNC:HGNC:1001 See related Ensembl:ENSG00000113916 MIM:109565; AllianceGenome:HGNC:1001 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 BCL5; LAZ3; BCL6A; ZNF51; ZBTB27 Summary The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in fat (RPKM 29.2), bone marrow (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
BCL6-AS1, Official Symbol BCL6-AS1provided by HGNC Official Full Name BCL6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51843 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as lnc-RP11-211G3.3.1-1 Annotation information not in current annotation release
BCL6B, Official Symbol BCL6Bprovided by HGNC Official Full Name BCL6B transcription repressorprovided by HGNC Primary source HGNC:HGNC:1002 See related Ensembl:ENSG00000161940 MIM:608992; AllianceGenome:HGNC:1002 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 BAZF; ZNF62; ZBTB28 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including regulation of gene expression; regulation of inflammatory response; and type 2 immune response. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 17.2), lung (RPKM 14.1) and 22 other tissues See more Orthologs mouse all
BCL7A, Official Symbol BCL7Aprovided by HGNC Official Full Name BAF chromatin remodeling complex subunit BCL7Aprovided by HGNC Primary source HGNC:HGNC:1004 See related Ensembl:ENSG00000110987 MIM:601406; AllianceGenome:HGNC:1004 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 BCL7; SMARCJ1 Summary This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
BCL7B, Official Symbol BCL7Bprovided by HGNC Official Full Name BAF chromatin remodeling complex subunit BCL7Bprovided by HGNC Primary source HGNC:HGNC:1005 See related Ensembl:ENSG00000106635 MIM:605846; AllianceGenome:HGNC:1005 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 SMARCJ2 Summary This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in bone marrow (RPKM 30.9), testis (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
BCL7C, Official Symbol BCL7Cprovided by HGNC Official Full Name BAF chromatin remodeling complex subunit BCL7Cprovided by HGNC Primary source HGNC:HGNC:1006 See related Ensembl:ENSG00000099385 MIM:605847; AllianceGenome:HGNC:1006 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 SMARCJ3 Summary This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Expression Ubiquitous expression in ovary (RPKM 5.5), endometrium (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
BCL9, Official Symbol BCL9provided by HGNC Official Full Name BCL9 transcription coactivatorprovided by HGNC Primary source HGNC:HGNC:1008 See related Ensembl:ENSG00000116128 MIM:602597; AllianceGenome:HGNC:1008 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 LGS Summary BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 9.5), ovary (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
BCL9L, Official Symbol BCL9Lprovided by HGNC Official Full Name BCL9 likeprovided by HGNC Primary source HGNC:HGNC:23688 See related Ensembl:ENSG00000186174 MIM:609004; AllianceGenome:HGNC:23688 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 B9L; BCL9-2; DLNB11 Summary Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 7.2), appendix (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
BCL9P1, Official Symbol BCL9P1provided by HGNC Official Full Name BCL9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51328 See related AllianceGenome:HGNC:51328 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCLAF1, Official Symbol BCLAF1provided by HGNC Official Full Name BCL2 associated transcription factor 1provided by HGNC Primary source HGNC:HGNC:16863 See related Ensembl:ENSG00000029363 MIM:612588; AllianceGenome:HGNC:16863 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 BTF; bK211L9.1 Summary This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 53.4), thyroid (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
BCLAF1P1, Official Symbol BCLAF1P1provided by HGNC Official Full Name BCL2 associated transcription factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51329 See related AllianceGenome:HGNC:51329 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCLAF1P2, Official Symbol BCLAF1P2provided by HGNC Official Full Name BCL2 associated transcription factor 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51807 See related Ensembl:ENSG00000279800 AllianceGenome:HGNC:51807 Gene type protein coding RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCLAF3, Official Symbol BCLAF3provided by HGNC Official Full Name BCLAF1 and THRAP3 family member 3provided by HGNC Primary source HGNC:HGNC:27413 See related Ensembl:ENSG00000173681 AllianceGenome:HGNC:27413 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 CXorf23 Summary Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 2.2), prostate (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
BCO1, Official Symbol BCO1provided by HGNC Official Full Name beta-carotene oxygenase 1provided by HGNC Primary source HGNC:HGNC:13815 See related Ensembl:ENSG00000135697 MIM:605748; AllianceGenome:HGNC:13815 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 BCO; BCDO; BCMO; BCDO1; BCMO1 Summary Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 7.4), duodenum (RPKM 3.9) and 4 other tissues See more Orthologs mouse all
BCO2, Official Symbol BCO2provided by HGNC Official Full Name beta-carotene oxygenase 2provided by HGNC Primary source HGNC:HGNC:18503 See related Ensembl:ENSG00000197580 MIM:611740; AllianceGenome:HGNC:18503 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 BCDO2; B-DIOX-II Summary This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in heart (RPKM 9.3), liver (RPKM 6.3) and 14 other tissues See more Orthologs mouse all
BCOR, Official Symbol BCORprovided by HGNC Official Full Name BCL6 corepressorprovided by HGNC Primary source HGNC:HGNC:20893 See related Ensembl:ENSG00000183337 MIM:300485; AllianceGenome:HGNC:20893 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 MAA2; ANOP2; MCOPS2 Summary The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in thyroid (RPKM 8.0), lymph node (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
BCORL1, Official Symbol BCORL1provided by HGNC Official Full Name BCL6 corepressor like 1provided by HGNC Primary source HGNC:HGNC:25657 See related Ensembl:ENSG00000085185 MIM:300688; AllianceGenome:HGNC:25657 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 SHUVER; BCoR-L1; CXorf10 Summary The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Broad expression in placenta (RPKM 4.2), testis (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
BCR, Official Symbol BCRprovided by HGNC Official Full Name BCR activator of RhoGEF and GTPaseprovided by HGNC Primary source HGNC:HGNC:1014 See related Ensembl:ENSG00000186716 MIM:151410; AllianceGenome:HGNC:1014 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 ALL; CML; PHL; BCR1; D22S11; D22S662 Summary A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020] Expression Ubiquitous expression in testis (RPKM 14.9), brain (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
BCRP4, Official Symbol BCRP4provided by HGNC Official Full Name BCR pseudogene 4provided by HGNC Primary source HGNC:HGNC:1017 See related Ensembl:ENSG00000215456 AllianceGenome:HGNC:1017 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BCR4; BCR-4; BCRL4
BCRP5, Official Symbol BCRP5provided by HGNC Official Full Name BCR pseudogene 5provided by HGNC Primary source HGNC:HGNC:1018 See related AllianceGenome:HGNC:1018 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 BCRL5
BCRP7, Official Symbol BCRP7provided by HGNC Official Full Name BCR pseudogene 7provided by HGNC Primary source HGNC:HGNC:39075 See related Ensembl:ENSG00000215544 AllianceGenome:HGNC:39075 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCRP8, Official Symbol BCRP8provided by HGNC Official Full Name BCR pseudogene 8provided by HGNC Primary source HGNC:HGNC:39076 See related Ensembl:ENSG00000236794 AllianceGenome:HGNC:39076 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCRP9, Official Symbol BCRP9provided by HGNC Official Full Name BCR pseudogene 9provided by HGNC Primary source HGNC:HGNC:49113 See related Ensembl:ENSG00000271287 AllianceGenome:HGNC:49113 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCS1L, Official Symbol BCS1Lprovided by HGNC Official Full Name BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by HGNC Primary source HGNC:HGNC:1020 See related Ensembl:ENSG00000074582 MIM:603647; AllianceGenome:HGNC:1020 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 BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719 Summary This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in skin (RPKM 9.0), ovary (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
BCYRN1, Official Symbol BCYRN1provided by HGNC Official Full Name brain cytoplasmic RNA 1provided by HGNC Primary source HGNC:HGNC:1022 See related Ensembl:ENSG00000236824 MIM:606089; AllianceGenome:HGNC:1022 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 BC200; BC200a; LINC00004; NCRNA00004 Summary This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008]
BDH1, Official Symbol BDH1provided by HGNC Official Full Name 3-hydroxybutyrate dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:1027 See related Ensembl:ENSG00000161267 MIM:603063; AllianceGenome:HGNC:1027 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 BDH; SDR9C1 Summary This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 11.8), colon (RPKM 4.8) and 19 other tissues See more Orthologs mouse all
BDH2, Official Symbol BDH2provided by HGNC Official Full Name 3-hydroxybutyrate dehydrogenase 2provided by HGNC Primary source HGNC:HGNC:32389 See related Ensembl:ENSG00000164039 AllianceGenome:HGNC:32389 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 DHRS6; EFA6R; SDR15C1; UCPA-OR; UNQ6308; PRO20933 Summary Enables 3-hydroxybutyrate dehydrogenase activity and NAD binding activity. Involved in epithelial cell differentiation and fatty acid beta-oxidation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 50.7), duodenum (RPKM 25.0) and 23 other tissues See more Orthologs mouse all
BDKRB1, Official Symbol BDKRB1provided by HGNC Official Full Name bradykinin receptor B1provided by HGNC Primary source HGNC:HGNC:1029 See related Ensembl:ENSG00000100739 MIM:600337; AllianceGenome:HGNC:1029 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 B1R; BKR1; B1BKR; BKB1R; BRADYB1 Summary Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Biased expression in gall bladder (RPKM 7.4), urinary bladder (RPKM 5.2) and 12 other tissues See more Orthologs mouse all