psui3905/ncbi_genes_summary huggingface dataset:
BDKRB2, Official Symbol BDKRB2provided by HGNC Official Full Name bradykinin receptor B2provided by HGNC Primary source HGNC:HGNC:1030 See related Ensembl:ENSG00000168398 MIM:113503; AllianceGenome:HGNC:1030 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 B2R; BK2; BK-2; BKR2; BRB2 Summary This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiologic conditions such as trauma and inflammation, and binds to its kinin receptors, B1 and B2. The B2 receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. [provided by RefSeq, Apr 2020] Expression Broad expression in urinary bladder (RPKM 13.5), gall bladder (RPKM 13.3) and 16 other tissues See more Orthologs mouse all
BDNF, Official Symbol BDNFprovided by HGNC Official Full Name brain derived neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:1033 See related Ensembl:ENSG00000176697 MIM:113505; AllianceGenome:HGNC:1033 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 ANON2; BULN2 Summary This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015] Expression Biased expression in brain (RPKM 3.0), lung (RPKM 1.2) and 11 other tissues See more Orthologs mouse all
BDNF-AS, Official Symbol BDNF-ASprovided by HGNC Official Full Name BDNF antisense RNAprovided by HGNC Primary source HGNC:HGNC:20608 See related Ensembl:ENSG00000245573 MIM:611468; AllianceGenome:HGNC:20608 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 BDNF; BDNFAS; BDNFOS; BDNF-AS1; ANTI-BDNF; NCRNA00049 Expression Ubiquitous expression in brain (RPKM 3.5), thyroid (RPKM 1.9) and 23 other tissues See more
BDP1, Official Symbol BDP1provided by HGNC Official Full Name B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIBprovided by HGNC Primary source HGNC:HGNC:13652 See related Ensembl:ENSG00000145734 MIM:607012; AllianceGenome:HGNC:13652 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 TFC5; TFNR; TAF3B1; DFNB112; TFIIIB''; TFIIIB90; HSA238520; TFIIIB150 Summary The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 5.4), lymph node (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
BEAN1, Official Symbol BEAN1provided by HGNC Official Full Name brain expressed associated with NEDD4 1provided by HGNC Primary source HGNC:HGNC:24160 See related Ensembl:ENSG00000166546 MIM:612051; AllianceGenome:HGNC:24160 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 BEAN; SCA31 Summary The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
BEAN1-AS1, Official Symbol BEAN1-AS1provided by HGNC Official Full Name BEAN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51114 See related Ensembl:ENSG00000261656 AllianceGenome:HGNC:51114 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 CTD-2258A20.5 Expression Low expression observed in reference dataset See more
BECN1, Official Symbol BECN1provided by HGNC Official Full Name beclin 1provided by HGNC Primary source HGNC:HGNC:1034 See related Ensembl:ENSG00000126581 MIM:604378; AllianceGenome:HGNC:1034 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 ATG6; VPS30; beclin1 Summary This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in colon (RPKM 32.3), duodenum (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
BECN2, Official Symbol BECN2provided by HGNC Official Full Name beclin 2provided by HGNC Primary source HGNC:HGNC:38606 See related Ensembl:ENSG00000196289 MIM:615687; AllianceGenome:HGNC:38606 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 BECN1L1; BECN1P1 Summary Acts upstream of or within G protein-coupled receptor catabolic process; autophagy; and endosome to lysosome transport. Predicted to be part of phosphatidylinositol 3-kinase complex, class III, type I and phosphatidylinositol 3-kinase complex, class III, type II. Predicted to be active in phagophore assembly site. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
BEGAIN, Official Symbol BEGAINprovided by HGNC Official Full Name brain enriched guanylate kinase associatedprovided by HGNC Primary source HGNC:HGNC:24163 See related Ensembl:ENSG00000183092 MIM:618597; AllianceGenome:HGNC:24163 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 Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity. Predicted to act upstream of or within evoked excitatory postsynaptic potential. Predicted to be located in dendrite; nucleus; and presynapse. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 14 other tissues See more Orthologs mouse all
BEND2, Official Symbol BEND2provided by HGNC Official Full Name BEN domain containing 2provided by HGNC Primary source HGNC:HGNC:28509 See related Ensembl:ENSG00000177324 AllianceGenome:HGNC:28509 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 CXorf20 Summary This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Restricted expression toward testis (RPKM 2.6) See more Orthologs all
BEND3, Official Symbol BEND3provided by HGNC Official Full Name BEN domain containing 3provided by HGNC Primary source HGNC:HGNC:23040 See related Ensembl:ENSG00000178409 MIM:616374; AllianceGenome:HGNC:23040 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 KIAA1553 Summary Enables rDNA binding activity. Involved in several processes, including histone modification; negative regulation of macromolecule metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 1.1), testis (RPKM 1.1) and 25 other tissues See more Orthologs mouse all
BEND3P3, Official Symbol BEND3P3provided by HGNC Official Full Name BEN domain containing 3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:45016 See related AllianceGenome:HGNC:45016 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BEND4, Official Symbol BEND4provided by HGNC Official Full Name BEN domain containing 4provided by HGNC Primary source HGNC:HGNC:23815 See related Ensembl:ENSG00000188848 AllianceGenome:HGNC:23815 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 CCDC4 Summary Predicted to enable DNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.9), prostate (RPKM 2.2) and 4 other tissues See more Orthologs mouse all
BEND5, Official Symbol BEND5provided by HGNC Official Full Name BEN domain containing 5provided by HGNC Primary source HGNC:HGNC:25668 See related Ensembl:ENSG00000162373 AllianceGenome:HGNC:25668 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 C1orf165 Summary Predicted to enable DNA binding activity. Involved in negative regulation of transcription, DNA-templated. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1.6), brain (RPKM 1.3) and 23 other tissues See more Orthologs mouse all
BEND6, Official Symbol BEND6provided by HGNC Official Full Name BEN domain containing 6provided by HGNC Primary source HGNC:HGNC:20871 See related Ensembl:ENSG00000151917 AllianceGenome:HGNC:20871 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 C6orf65 Summary Enables transcription corepressor activity. Predicted to be involved in negative regulation of Notch signaling pathway and positive regulation of neuron differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.4), gall bladder (RPKM 1.0) and 7 other tissues See more Orthologs mouse all
BEND7, Official Symbol BEND7provided by HGNC Official Full Name BEN domain containing 7provided by HGNC Primary source HGNC:HGNC:23514 See related Ensembl:ENSG00000165626 AllianceGenome:HGNC:23514 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 C10orf30 Summary Predicted to enable DNA binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 4.1), small intestine (RPKM 3.0) and 22 other tissues See more Orthologs mouse all
BEND7P1, Official Symbol BEND7P1provided by HGNC Official Full Name BEN domain containing 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51362 See related AllianceGenome:HGNC:51362 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BEST1, Official Symbol BEST1provided by HGNC Official Full Name bestrophin 1provided by HGNC Primary source HGNC:HGNC:12703 See related Ensembl:ENSG00000167995 MIM:607854; AllianceGenome:HGNC:12703 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 ARB; BMD; BEST; RP50; VMD2; TU15B; Best1V1Delta2 Summary This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] Expression Broad expression in brain (RPKM 5.3), appendix (RPKM 3.0) and 23 other tissues See more Orthologs mouse all
BEST2, Official Symbol BEST2provided by HGNC Official Full Name bestrophin 2provided by HGNC Primary source HGNC:HGNC:17107 See related Ensembl:ENSG00000039987 MIM:607335; AllianceGenome:HGNC:17107 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 VMD2L1 Summary This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] Expression Restricted expression toward colon (RPKM 11.0) See more Orthologs mouse all
BEST3, Official Symbol BEST3provided by HGNC Official Full Name bestrophin 3provided by HGNC Primary source HGNC:HGNC:17105 See related Ensembl:ENSG00000127325 MIM:607337; AllianceGenome:HGNC:17105 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 VMD2L3 Summary BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 1.2), testis (RPKM 0.5) and 4 other tissues See more Orthologs mouse all
BEST4, Official Symbol BEST4provided by HGNC Official Full Name bestrophin 4provided by HGNC Primary source HGNC:HGNC:17106 See related Ensembl:ENSG00000142959 MIM:607336; AllianceGenome:HGNC:17106 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 VMD2L2 Summary This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 7.6), duodenum (RPKM 2.6) and 2 other tissues See more Orthologs all
BET1, Official Symbol BET1provided by HGNC Official Full Name Bet1 golgi vesicular membrane trafficking proteinprovided by HGNC Primary source HGNC:HGNC:14562 See related Ensembl:ENSG00000105829 MIM:605456; AllianceGenome:HGNC:14562 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 HBET1 Summary This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in placenta (RPKM 6.4), adrenal (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
BET1L, Official Symbol BET1Lprovided by HGNC Official Full Name Bet1 golgi vesicular membrane trafficking protein likeprovided by HGNC Primary source HGNC:HGNC:19348 See related Ensembl:ENSG00000177951 MIM:615417; AllianceGenome:HGNC:19348 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 GS15; BET1L1; GOLIM3; HSPC197 Summary Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 28.0), thyroid (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
BEX1, Official Symbol BEX1provided by HGNC Official Full Name brain expressed X-linked 1provided by HGNC Primary source HGNC:HGNC:1036 See related Ensembl:ENSG00000133169 MIM:300690; AllianceGenome:HGNC:1036 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 BEX2; HBEX2; HGR74-h Summary Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of DNA-binding transcription factor activity and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 178.4), testis (RPKM 38.4) and 3 other tissues See more Orthologs mouse all
BEX2, Official Symbol BEX2provided by HGNC Official Full Name brain expressed X-linked 2provided by HGNC Primary source HGNC:HGNC:30933 See related Ensembl:ENSG00000133134 MIM:300691; AllianceGenome:HGNC:30933 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 BEX1; DJ79P11.1 Summary This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] Expression Broad expression in brain (RPKM 60.5), thyroid (RPKM 40.0) and 14 other tissues See more Orthologs mouse all
BEX3, Official Symbol BEX3provided by HGNC Official Full Name brain expressed X-linked 3provided by HGNC Primary source HGNC:HGNC:13388 See related Ensembl:ENSG00000166681 MIM:300361; AllianceGenome:HGNC:13388 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 Bex; NADE; HGR74; NGFRAP1; DXS6984E Summary Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within extrinsic apoptotic signaling pathway via death domain receptors. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 147.0), ovary (RPKM 108.9) and 24 other tissues See more Orthologs mouse all
BEX4, Official Symbol BEX4provided by HGNC Official Full Name brain expressed X-linked 4provided by HGNC Primary source HGNC:HGNC:25475 See related Ensembl:ENSG00000102409 MIM:300692; AllianceGenome:HGNC:25475 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 BEXL1 Summary This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 111.7), thyroid (RPKM 67.9) and 23 other tissues See more Orthologs mouse all
BEX5, Official Symbol BEX5provided by HGNC Official Full Name brain expressed X-linked 5provided by HGNC Primary source HGNC:HGNC:27990 See related Ensembl:ENSG00000184515 MIM:300693; AllianceGenome:HGNC:27990 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 NGFRAP1L1 Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 24.8), thyroid (RPKM 6.2) and 10 other tissues See more Orthologs all
BFAR, Official Symbol BFARprovided by HGNC Official Full Name bifunctional apoptosis regulatorprovided by HGNC Primary source HGNC:HGNC:17613 See related Ensembl:ENSG00000103429 MIM:619516; AllianceGenome:HGNC:17613 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 BAR; RNF47 Summary Enables caspase binding activity; protein-macromolecule adaptor activity; and ubiquitin protein ligase activity. Involved in negative regulation of IRE1-mediated unfolded protein response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Acts upstream of or within negative regulation of apoptotic process. Located in endoplasmic reticulum and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
BFSP1, Official Symbol BFSP1provided by HGNC Official Full Name beaded filament structural protein 1provided by HGNC Primary source HGNC:HGNC:1040 See related Ensembl:ENSG00000125864 MIM:603307; AllianceGenome:HGNC:1040 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 CP94; CP115; LIFL-H; CTRCT33 Summary This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 2.0), thyroid (RPKM 0.9) and 20 other tissues See more Orthologs mouse all
BFSP2, Official Symbol BFSP2provided by HGNC Official Full Name beaded filament structural protein 2provided by HGNC Primary source HGNC:HGNC:1041 See related Ensembl:ENSG00000170819 MIM:603212; AllianceGenome:HGNC:1041 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 CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN Summary More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
BFSP2-AS1, Official Symbol BFSP2-AS1provided by HGNC Official Full Name BFSP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28425 See related Ensembl:ENSG00000249993 AllianceGenome:HGNC:28425 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
BGLAP, Official Symbol BGLAPprovided by HGNC Official Full Name bone gamma-carboxyglutamate proteinprovided by HGNC Primary source HGNC:HGNC:1043 See related Ensembl:ENSG00000242252 MIM:112260; AllianceGenome:HGNC:1043 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 OC; BGP; OCN Summary This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015] Expression Ubiquitous expression in endometrium (RPKM 1.6), prostate (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
BGLT3, Official Symbol BGLT3provided by HGNC Official Full Name beta globin locus transcript 3provided by HGNC Primary source HGNC:HGNC:49033 See related Ensembl:ENSG00000260629 MIM:616308; AllianceGenome:HGNC:49033 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 BGL3; LINC01083; lncRNA-BGL3
BGN, Official Symbol BGNprovided by HGNC Official Full Name biglycanprovided by HGNC Primary source HGNC:HGNC:1044 See related Ensembl:ENSG00000182492 MIM:301870; AllianceGenome:HGNC:1044 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 PGI; MRLS; DSPG1; PG-S1; SEMDX; SLRR1A Summary This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015] Expression Broad expression in gall bladder (RPKM 206.5), spleen (RPKM 159.3) and 20 other tissues See more Orthologs mouse all
BHLHA15, Official Symbol BHLHA15provided by HGNC Official Full Name basic helix-loop-helix family member a15provided by HGNC Primary source HGNC:HGNC:22265 See related Ensembl:ENSG00000180535 MIM:608606; AllianceGenome:HGNC:22265 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 MIST1; BHLHB8 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; endoplasmic reticulum unfolded protein response; and negative regulation of myotube differentiation. Predicted to act upstream of or within several processes, including glucose homeostasis; intracellular distribution of mitochondria; and mitochondrial calcium ion transmembrane transport. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
BHLHA9, Official Symbol BHLHA9provided by HGNC Official Full Name basic helix-loop-helix family member a9provided by HGNC Primary source HGNC:HGNC:35126 See related Ensembl:ENSG00000205899 MIM:615416; AllianceGenome:HGNC:35126 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 CCSPD; BHLHF42 Summary This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015] Orthologs mouse all
BHLHE22, Official Symbol BHLHE22provided by HGNC Official Full Name basic helix-loop-helix family member e22provided by HGNC Primary source HGNC:HGNC:11963 See related Ensembl:ENSG00000180828 MIM:613483; AllianceGenome:HGNC:11963 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 Beta3; BHLHB5; Beta3a; CAGL85; TNRC20 Summary This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016] Orthologs mouse all
BHLHE23, Official Symbol BHLHE23provided by HGNC Official Full Name basic helix-loop-helix family member e23provided by HGNC Primary source HGNC:HGNC:16093 See related Ensembl:ENSG00000125533 MIM:609331; AllianceGenome:HGNC:16093 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 BETA4; BHLHB4; Beta3b; bA305P22.3 Summary This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013] Orthologs mouse all
BHLHE40, Official Symbol BHLHE40provided by HGNC Official Full Name basic helix-loop-helix family member e40provided by HGNC Primary source HGNC:HGNC:1046 See related Ensembl:ENSG00000134107 MIM:604256; AllianceGenome:HGNC:1046 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 DEC1; HLHB2; BHLHB2; Clast5; SHARP2; STRA13; Stra14; SHARP-2 Summary This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014] Annotation information Note: DEC1 (Gene ID: 50514) and BHLHE40 (Gene ID: 8553) share the DEC1 symbol/alias in common. DEC1 (differentially expressed in chondrocytes 1) is a widely used alternative name for basic helix-loop-helix family member e40 (BHLHE40), which can be confused with the official symbol for deleted in esophageal cancer 1 (DEC1). [23 May 2018] Expression Ubiquitous expression in esophagus (RPKM 152.7), liver (RPKM 106.8) and 25 other tissues See more Orthologs mouse all
BHLHE40-AS1, Official Symbol BHLHE40-AS1provided by HGNC Official Full Name BHLHE40 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44471 See related Ensembl:ENSG00000235831 AllianceGenome:HGNC:44471 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 Ubiquitous expression in kidney (RPKM 3.4), adrenal (RPKM 3.3) and 25 other tissues See more
BHLHE41, Official Symbol BHLHE41provided by HGNC Official Full Name basic helix-loop-helix family member e41provided by HGNC Primary source HGNC:HGNC:16617 See related Ensembl:ENSG00000123095 MIM:606200; AllianceGenome:HGNC:16617 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 DEC2; FNSS1; hDEC2; BHLHB3; SHARP1 Summary This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014] Expression Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues See more Orthologs mouse all
BHMT, Official Symbol BHMTprovided by HGNC Official Full Name betaine--homocysteine S-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:1047 See related Ensembl:ENSG00000145692 MIM:602888; AllianceGenome:HGNC:1047 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 BHMT1; HEL-S-61p Summary This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 481.8) and liver (RPKM 260.9) See more Orthologs mouse all
BHMT2, Official Symbol BHMT2provided by HGNC Official Full Name betaine--homocysteine S-methyltransferase 2provided by HGNC Primary source HGNC:HGNC:1048 See related Ensembl:ENSG00000132840 MIM:605932; AllianceGenome:HGNC:1048 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 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Biased expression in kidney (RPKM 175.7), liver (RPKM 113.0) and 1 other tissue See more Orthologs mouse all
BICC1, Official Symbol BICC1provided by HGNC Official Full Name BicC family RNA binding protein 1provided by HGNC Primary source HGNC:HGNC:19351 See related Ensembl:ENSG00000122870 MIM:614295; AllianceGenome:HGNC:19351 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 BICC; CYSRD Summary This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Expression Broad expression in kidney (RPKM 5.8), gall bladder (RPKM 2.9) and 22 other tissues See more Orthologs mouse all
BICD1, Official Symbol BICD1provided by HGNC Official Full Name BICD cargo adaptor 1provided by HGNC Primary source HGNC:HGNC:1049 See related Ensembl:ENSG00000151746 MIM:602204; AllianceGenome:HGNC:1049 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 BICD; bic-D 1 Summary This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017] Expression Broad expression in ovary (RPKM 4.3), brain (RPKM 3.8) and 20 other tissues See more Orthologs mouse all
BICD1P1, Official Symbol BICD1P1provided by HGNC Official Full Name BICD cargo adaptor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51374 See related Ensembl:ENSG00000224346 AllianceGenome:HGNC:51374 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BICD2, Official Symbol BICD2provided by HGNC Official Full Name BICD cargo adaptor 2provided by HGNC Primary source HGNC:HGNC:17208 See related Ensembl:ENSG00000185963 MIM:609797; AllianceGenome:HGNC:17208 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 SMALED2; SMALED2A; SMALED2B; bA526D8.1 Summary This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 24.1), esophagus (RPKM 14.2) and 24 other tissues See more Orthologs mouse all
BICDL1, Official Symbol BICDL1provided by HGNC Official Full Name BICD family like cargo adaptor 1provided by HGNC Primary source HGNC:HGNC:28095 See related Ensembl:ENSG00000135127 MIM:617002; AllianceGenome:HGNC:28095 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 BICDR1; CCDC64; BICDR-1; CCDC64A; H_267D11.1 Summary Predicted to enable dynactin binding activity and small GTPase binding activity. Predicted to be involved in Golgi to secretory granule transport; neuron projection development; and vesicle transport along microtubule. Predicted to be located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 26.8), skin (RPKM 12.5) and 9 other tissues See more Orthologs mouse all
BICDL2, Official Symbol BICDL2provided by HGNC Official Full Name BICD family like cargo adaptor 2provided by HGNC Primary source HGNC:HGNC:33584 See related Ensembl:ENSG00000162069 MIM:617003; AllianceGenome:HGNC:33584 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 BICDR2; BICDR-2; CCDC64B Summary Predicted to enable small GTPase binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 12.5), skin (RPKM 11.3) and 14 other tissues See more Orthologs mouse all
BICRA, Official Symbol BICRAprovided by HGNC Official Full Name BRD4 interacting chromatin remodeling complex associated proteinprovided by HGNC Primary source HGNC:HGNC:4332 See related Ensembl:ENSG00000063169 MIM:605690; AllianceGenome:HGNC:4332 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 CSS12; GLTSCR1; SMARCK1 Summary Enables transcription regulator activator activity. Involved in positive regulation of transcription, DNA-templated. Located in nucleus. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 1.9), prostate (RPKM 1.7) and 25 other tissues See more Orthologs mouse all