psui3905/ncbi_genes_summary huggingface dataset:
BICRAL, Official Symbol BICRALprovided by HGNC Official Full Name BICRA like chromatin remodeling complex associated proteinprovided by HGNC Primary source HGNC:HGNC:21111 See related Ensembl:ENSG00000112624 MIM:618502; AllianceGenome:HGNC:21111 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 SMARCK2; GLTSCR1L; KIAA0240 Summary Predicted to be involved in positive regulation of transcription, DNA-templated. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 8.6), thyroid (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
BID, Official Symbol BIDprovided by HGNC Official Full Name BH3 interacting domain death agonistprovided by HGNC Primary source HGNC:HGNC:1050 See related Ensembl:ENSG00000015475 MIM:601997; AllianceGenome:HGNC:1050 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 FP497 Summary This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020] Expression Ubiquitous expression in bone marrow (RPKM 13.8), brain (RPKM 9.4) and 24 other tissues See more Orthologs mouse all
BIK, Official Symbol BIKprovided by HGNC Official Full Name BCL2 interacting killerprovided by HGNC Primary source HGNC:HGNC:1051 See related Ensembl:ENSG00000100290 MIM:603392; AllianceGenome:HGNC:1051 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 BP4; NBK; BIP1 Summary The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] Expression Biased expression in stomach (RPKM 6.4), colon (RPKM 5.6) and 13 other tissues See more Orthologs mouse all
BIN1, Official Symbol BIN1provided by HGNC Official Full Name bridging integrator 1provided by HGNC Primary source HGNC:HGNC:1052 See related Ensembl:ENSG00000136717 MIM:601248; AllianceGenome:HGNC:1052 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 CNM2; AMPH2; AMPHL; SH3P9 Summary This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 31.3), kidney (RPKM 18.5) and 22 other tissues See more Orthologs mouse all
BIN2, Official Symbol BIN2provided by HGNC Official Full Name bridging integrator 2provided by HGNC Primary source HGNC:HGNC:1053 See related Ensembl:ENSG00000110934 MIM:605936; AllianceGenome:HGNC:1053 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 BRAP-1 Summary Enables phospholipid binding activity. Involved in several processes, including phagocytosis, engulfment; plasma membrane tubulation; and podosome assembly. Located in plasma membrane and podosome. Colocalizes with phagocytic cup. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 30.2), spleen (RPKM 24.4) and 15 other tissues See more Orthologs mouse all
BIN2P1, Official Symbol BIN2P1provided by HGNC Official Full Name bridging integrator 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43660 See related AllianceGenome:HGNC:43660 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BIN2P2, Official Symbol BIN2P2provided by HGNC Official Full Name bridging integrator 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:43661 See related Ensembl:ENSG00000248684 AllianceGenome:HGNC:43661 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BIN3, Official Symbol BIN3provided by HGNC Official Full Name bridging integrator 3provided by HGNC Primary source HGNC:HGNC:1054 See related Ensembl:ENSG00000147439 MIM:606396; AllianceGenome:HGNC:1054 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 13.5), adrenal (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
BIRC2, Official Symbol BIRC2provided by HGNC Official Full Name baculoviral IAP repeat containing 2provided by HGNC Primary source HGNC:HGNC:590 See related Ensembl:ENSG00000110330 MIM:601712; AllianceGenome:HGNC:590 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 API1; MIHB; HIAP2; RNF48; cIAP1; Hiap-2; c-IAP1 Summary The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in lymph node (RPKM 16.6), gall bladder (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
BIRC3, Official Symbol BIRC3provided by HGNC Official Full Name baculoviral IAP repeat containing 3provided by HGNC Primary source HGNC:HGNC:591 See related Ensembl:ENSG00000023445 MIM:601721; AllianceGenome:HGNC:591 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 AIP1; API2; MIHC; CIAP2; HAIP1; HIAP1; IAP-1; MALT2; RNF49; c-IAP2 Summary This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] Expression Broad expression in lymph node (RPKM 48.6), appendix (RPKM 43.1) and 15 other tissues See more Orthologs all
BIRC5, Official Symbol BIRC5provided by HGNC Official Full Name baculoviral IAP repeat containing 5provided by HGNC Primary source HGNC:HGNC:593 See related Ensembl:ENSG00000089685 MIM:603352; AllianceGenome:HGNC:593 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 API4; EPR-1 Summary This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Expression Biased expression in bone marrow (RPKM 13.2), testis (RPKM 10.8) and 12 other tissues See more Orthologs mouse all
BIRC6, Official Symbol BIRC6provided by HGNC Official Full Name baculoviral IAP repeat containing 6provided by HGNC Primary source HGNC:HGNC:13516 See related Ensembl:ENSG00000115760 MIM:605638; AllianceGenome:HGNC:13516 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 BRUCE; APOLLON Summary This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 6.5), ovary (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
BIRC6-AS1, Official Symbol BIRC6-AS1provided by HGNC Official Full Name BIRC6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40641 See related AllianceGenome:HGNC:40641 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as pal3 Annotation information not in current annotation release
BIRC7, Official Symbol BIRC7provided by HGNC Official Full Name baculoviral IAP repeat containing 7provided by HGNC Primary source HGNC:HGNC:13702 See related Ensembl:ENSG00000101197 MIM:605737; AllianceGenome:HGNC:13702 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 KIAP; LIVIN; MLIAP; RNF50; ML-IAP Summary This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013] Expression Biased expression in placenta (RPKM 3.1), skin (RPKM 0.7) and 5 other tissues See more Orthologs mouse all
BIRC8, Official Symbol BIRC8provided by HGNC Official Full Name baculoviral IAP repeat containing 8provided by HGNC Primary source HGNC:HGNC:14878 See related Ensembl:ENSG00000163098 AllianceGenome:HGNC:14878 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 ILP2; ILP-2; hILP2; RNF136 Summary Predicted to enable cysteine-type endopeptidase inhibitor activity involved in apoptotic process and ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of apoptotic process; positive regulation of canonical Wnt signaling pathway; and positive regulation of protein ubiquitination. Predicted to be active in cytoplasm; nucleus; and spindle microtubule. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
BISPR, Official Symbol BISPRprovided by HGNC Official Full Name BST2 interferon stimulated positive regulatorprovided by HGNC Primary source HGNC:HGNC:51290 See related Ensembl:ENSG00000282851 AllianceGenome:HGNC:51290 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 lncBST2 Expression Broad expression in ovary (RPKM 23.4), lymph node (RPKM 11.3) and 17 other tissues See more
BIVM, Official Symbol BIVMprovided by HGNC Official Full Name basic, immunoglobulin-like variable motif containingprovided by HGNC Primary source HGNC:HGNC:16034 See related Ensembl:ENSG00000134897 MIM:619006; AllianceGenome:HGNC:16034 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 Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 9.2), heart (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
BIVM-ERCC5, Official Symbol BIVM-ERCC5provided by HGNC Official Full Name BIVM-ERCC5 readthroughprovided by HGNC Primary source HGNC:HGNC:43690 See related Ensembl:ENSG00000270181 AllianceGenome:HGNC:43690 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 ERCC5-202 Summary This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in duodenum (RPKM 14.2), spleen (RPKM 14.0) and 25 other tissues See more Orthologs all
BLACAT1, Official Symbol BLACAT1provided by HGNC Official Full Name BLACAT1 overlapping LEMD1 locusprovided by HGNC Primary source HGNC:HGNC:48597 See related Ensembl:ENSG00000281406 MIM:615480; AllianceGenome:HGNC:48597 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 LINC00912; linc-UBC1; onco-lncRNA-30 Expression Broad expression in testis (RPKM 1.3), thyroid (RPKM 1.0) and 15 other tissues See more Orthologs all
BLACE, Official Symbol BLACEprovided by HGNC Official Full Name B cell acute lymphoblastic leukemia expressedprovided by HGNC Primary source HGNC:HGNC:20484 See related Ensembl:ENSG00000204960 MIM:608450; AllianceGenome:HGNC:20484 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
BLCAP, Official Symbol BLCAPprovided by HGNC Official Full Name BLCAP apoptosis inducing factorprovided by HGNC Primary source HGNC:HGNC:1055 See related Ensembl:ENSG00000166619 MIM:613110; AllianceGenome:HGNC:1055 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 BC10 Summary This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in brain (RPKM 29.8), placenta (RPKM 23.5) and 24 other tissues See more Orthologs mouse all
BLID, Official Symbol BLIDprovided by HGNC Official Full Name BH3-like motif containing, cell death inducerprovided by HGNC Primary source HGNC:HGNC:33495 See related Ensembl:ENSG00000259571 MIM:608853; AllianceGenome:HGNC:33495 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 BRCC2 Summary This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] Orthologs all
BLK, Official Symbol BLKprovided by HGNC Official Full Name BLK proto-oncogene, Src family tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:1057 See related Ensembl:ENSG00000136573 MIM:191305; AllianceGenome:HGNC:1057 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 MODY11 Summary This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Expression Biased expression in lymph node (RPKM 18.9), spleen (RPKM 13.7) and 4 other tissues See more Orthologs mouse all
BLM, Official Symbol BLMprovided by HGNC Official Full Name BLM RecQ like helicaseprovided by HGNC Primary source HGNC:HGNC:1058 See related Ensembl:ENSG00000197299 MIM:604610; AllianceGenome:HGNC:1058 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 BS; RECQ2; RECQL2; RECQL3; MGRISCE1 Summary The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020] Expression Biased expression in salivary gland (RPKM 10.0), lymph node (RPKM 3.9) and 12 other tissues See more Orthologs mouse all
BLMH, Official Symbol BLMHprovided by HGNC Official Full Name bleomycin hydrolaseprovided by HGNC Primary source HGNC:HGNC:1059 See related Ensembl:ENSG00000108578 MIM:602403; AllianceGenome:HGNC:1059 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 BH; BMH Summary Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 54.6), placenta (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
BLNK, Official Symbol BLNKprovided by HGNC Official Full Name B cell linkerprovided by HGNC Primary source HGNC:HGNC:14211 See related Ensembl:ENSG00000095585 MIM:604515; AllianceGenome:HGNC:14211 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 bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65 Summary This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] Expression Broad expression in spleen (RPKM 11.8), lymph node (RPKM 11.8) and 20 other tissues See more Orthologs mouse all
BLOC1S1, Official Symbol BLOC1S1provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 1provided by HGNC Primary source HGNC:HGNC:4200 See related Ensembl:ENSG00000135441 MIM:601444; AllianceGenome:HGNC:4200 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 RT14; BLOS1; MICoA; BORCS1; GCN5L1 Summary BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in colon (RPKM 39.9), kidney (RPKM 33.3) and 25 other tissues See more Orthologs mouse all
BLOC1S2, Official Symbol BLOC1S2provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 2provided by HGNC Primary source HGNC:HGNC:20984 See related Ensembl:ENSG00000196072 MIM:609768; AllianceGenome:HGNC:20984 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 CEAP; BLOS2; BORCS2; CEAP11 Summary This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
BLOC1S3, Official Symbol BLOC1S3provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 3provided by HGNC Primary source HGNC:HGNC:20914 See related Ensembl:ENSG00000189114 MIM:609762; AllianceGenome:HGNC:20914 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 RP; HPS8; BLOS3 Summary This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 2.9), skin (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
BLOC1S4, Official Symbol BLOC1S4provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 4provided by HGNC Primary source HGNC:HGNC:24206 See related Ensembl:ENSG00000186222 MIM:605695; AllianceGenome:HGNC:24206 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 CNO; BLOS4; BCAS4L Summary This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] Orthologs mouse all
BLOC1S5, Official Symbol BLOC1S5provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 5provided by HGNC Primary source HGNC:HGNC:18561 See related Ensembl:ENSG00000188428 MIM:607289; AllianceGenome:HGNC:18561 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 MU; BLOS5; HPS11; MUTED Summary This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in kidney (RPKM 8.1), thyroid (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
BLOC1S5-TXNDC5, Official Symbol BLOC1S5-TXNDC5provided by HGNC Official Full Name BLOC1S5-TXNDC5 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:42001 See related Ensembl:ENSG00000259040 AllianceGenome:HGNC:42001 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 MUTED-TXNDC5 Summary This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in urinary bladder (RPKM 156.2), colon (RPKM 129.2) and 25 other tissues See more
BLOC1S6, Official Symbol BLOC1S6provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 6provided by HGNC Primary source HGNC:HGNC:8549 See related Ensembl:ENSG00000104164 MIM:604310; AllianceGenome:HGNC:8549 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 PA; HPS9; PLDN; BLOS6; PALLID Summary The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in thyroid (RPKM 21.0), prostate (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
BLTP2, Official Symbol BLTP2provided by HGNC Official Full Name bridge-like lipid transfer protein family member 2provided by HGNC Primary source HGNC:HGNC:28960 See related Ensembl:ENSG00000007202 MIM:610664; AllianceGenome:HGNC:28960 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 Hob; BCOX; BCOX1; CT101; FMP27; KIAA0100 Summary This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.9) and 25 other tissues See more Orthologs mouse all
BLTP3A, Official Symbol BLTP3Aprovided by HGNC Official Full Name bridge-like lipid transfer protein family member 3Aprovided by HGNC Primary source HGNC:HGNC:21216 See related Ensembl:ENSG00000065060 MIM:619570; AllianceGenome:HGNC:21216 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 ICBP90; C6orf107; SHIP164B; UHRF1BP1; dJ349A12.1 Summary Enables histone deacetylase binding activity and identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 8.7), bone marrow (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
BLVRA, Official Symbol BLVRAprovided by HGNC Official Full Name biliverdin reductase Aprovided by HGNC Primary source HGNC:HGNC:1062 See related Ensembl:ENSG00000106605 MIM:109750; AllianceGenome:HGNC:1062 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 BVR; BLVR; BVRA; BVRalpha Summary The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in spleen (RPKM 33.2), lung (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
BLVRB, Official Symbol BLVRBprovided by HGNC Official Full Name biliverdin reductase Bprovided by HGNC Primary source HGNC:HGNC:1063 See related Ensembl:ENSG00000090013 MIM:600941; AllianceGenome:HGNC:1063 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 FLR; BVRB; SDR43U1; HEL-S-10 Summary Enables biliverdin reductase (NAD(P)+) activity and riboflavin reductase (NADPH) activity. Involved in heme catabolic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 178.6), spleen (RPKM 63.9) and 23 other tissues See more Orthologs mouse all
BLZF1, Official Symbol BLZF1provided by HGNC Official Full Name basic leucine zipper nuclear factor 1provided by HGNC Primary source HGNC:HGNC:1065 See related Ensembl:ENSG00000117475 MIM:608692; AllianceGenome:HGNC:1065 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 JEM1; JEM-1; JEM-1s; GOLGIN-45 Summary Enables ubiquitin protein ligase binding activity. Acts upstream of or within Golgi organization and Golgi to plasma membrane protein transport. Located in Golgi apparatus and nucleoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.9), esophagus (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
BMAL2, Official Symbol BMAL2provided by HGNC Official Full Name basic helix-loop-helix ARNT like 2provided by HGNC Primary source HGNC:HGNC:18984 See related Ensembl:ENSG00000029153 MIM:614517; AllianceGenome:HGNC:18984 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 CLIF; MOP9; PASD9; ARNTL2; bHLHe6 Summary This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in esophagus (RPKM 6.4), appendix (RPKM 3.2) and 17 other tissues See more Orthologs mouse all
BMERB1, Official Symbol BMERB1provided by HGNC Official Full Name bMERB domain containing 1provided by HGNC Primary source HGNC:HGNC:19213 See related Ensembl:ENSG00000166780 AllianceGenome:HGNC:19213 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 MINP; C16orf45 Summary Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration and negative regulation of microtubule depolymerization. Predicted to be located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 40.3), endometrium (RPKM 12.8) and 21 other tissues See more Orthologs mouse all
BMF, Official Symbol BMFprovided by HGNC Official Full Name Bcl2 modifying factorprovided by HGNC Primary source HGNC:HGNC:24132 See related Ensembl:ENSG00000104081 MIM:606266; AllianceGenome:HGNC:24132 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene 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. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 8.6), bone marrow (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
BMI1, Official Symbol BMI1provided by HGNC Official Full Name BMI1 proto-oncogene, polycomb ring fingerprovided by HGNC Primary source HGNC:HGNC:1066 See related Ensembl:ENSG00000168283 MIM:164831; AllianceGenome:HGNC:1066 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 PCGF4; RNF51; FLVI2/BMI1; flvi-2/bmi-1 Summary This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in testis (RPKM 21.4), endometrium (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
BMI1P1, Official Symbol BMI1P1provided by HGNC Official Full Name BMI1 proto-oncogene, polycomb ring finger pseudogene 1provided by HGNC Primary source HGNC:HGNC:51428 See related Ensembl:ENSG00000234201 AllianceGenome:HGNC:51428 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 lnc-OPHN1-5
BMP1, Official Symbol BMP1provided by HGNC Official Full Name bone morphogenetic protein 1provided by HGNC Primary source HGNC:HGNC:1067 See related Ensembl:ENSG00000168487 MIM:112264; AllianceGenome:HGNC:1067 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 PCP; TLD; OI13; PCP2; PCOLC Summary This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] Expression Broad expression in placenta (RPKM 24.6), endometrium (RPKM 12.4) and 22 other tissues See more Orthologs mouse all
BMP10, Official Symbol BMP10provided by HGNC Official Full Name bone morphogenetic protein 10provided by HGNC Primary source HGNC:HGNC:20869 See related Ensembl:ENSG00000163217 MIM:608748; AllianceGenome:HGNC:20869 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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016] Expression Restricted expression toward heart (RPKM 211.3) See more Orthologs mouse all
BMP15, Official Symbol BMP15provided by HGNC Official Full Name bone morphogenetic protein 15provided by HGNC Primary source HGNC:HGNC:1068 See related Ensembl:ENSG00000130385 MIM:300247; AllianceGenome:HGNC:1068 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 ODG2; POF4; GDF9B Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
BMP2, Official Symbol BMP2provided by HGNC Official Full Name bone morphogenetic protein 2provided by HGNC Primary source HGNC:HGNC:1069 See related Ensembl:ENSG00000125845 MIM:112261; AllianceGenome:HGNC:1069 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 BDA2; BMP2A; SSFSC; SSFSC1 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016] Expression Broad expression in fat (RPKM 13.9), colon (RPKM 12.1) and 21 other tissues See more Orthologs mouse all
BMP2K, Official Symbol BMP2Kprovided by HGNC Official Full Name BMP2 inducible kinaseprovided by HGNC Primary source HGNC:HGNC:18041 See related Ensembl:ENSG00000138756 MIM:617648; AllianceGenome:HGNC:18041 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 BIKE; HRIHFB2017 Summary This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 10.8), lymph node (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
BMP2KL, Official Symbol BMP2KLprovided by HGNC Official Full Name BMP2 inducible kinase like (pseudogene)provided by HGNC Primary source HGNC:HGNC:17080 See related Ensembl:ENSG00000204113 AllianceGenome:HGNC:17080 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo