psui3905/ncbi_genes_summary huggingface dataset:
BRD3OS, Official Symbol BRD3OSprovided by HGNC Official Full Name BRD3 opposite strandprovided by HGNC Primary source HGNC:HGNC:24742 See related Ensembl:ENSG00000235106 AllianceGenome:HGNC:24742 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 LP2477; SERLOC; LINC00094; NCRNA00094 Expression Ubiquitous expression in brain (RPKM 8.3), thyroid (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
BRD4, Official Symbol BRD4provided by HGNC Official Full Name bromodomain containing 4provided by HGNC Primary source HGNC:HGNC:13575 See related Ensembl:ENSG00000141867 MIM:608749; AllianceGenome:HGNC:13575 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 CAP; MCAP; HUNK1; HUNKI; FSHRG4 Summary The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 10.8), testis (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
BRD7, Official Symbol BRD7provided by HGNC Official Full Name bromodomain containing 7provided by HGNC Primary source HGNC:HGNC:14310 See related Ensembl:ENSG00000166164 MIM:618489; AllianceGenome:HGNC:14310 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 BP75; NAG4; CELTIX1; SMARCI1 Summary This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in testis (RPKM 21.8), spleen (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
BRD7P2, Official Symbol BRD7P2provided by HGNC Official Full Name bromodomain containing 7 pseudogene 2provided by HGNC Primary source HGNC:HGNC:33541 See related Ensembl:ENSG00000184100 AllianceGenome:HGNC:33541 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRD7P5, Official Symbol BRD7P5provided by HGNC Official Full Name bromodomain containing 7 pseudogene 5provided by HGNC Primary source HGNC:HGNC:37631 See related Ensembl:ENSG00000235768 AllianceGenome:HGNC:37631 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRD8, Official Symbol BRD8provided by HGNC Official Full Name bromodomain containing 8provided by HGNC Primary source HGNC:HGNC:19874 See related Ensembl:ENSG00000112983 MIM:602848; AllianceGenome:HGNC:19874 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 SMAP; p120; SMAP2 Summary The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 45.3), brain (RPKM 10.9) and 23 other tissues See more Orthologs mouse all
BRD9, Official Symbol BRD9provided by HGNC Official Full Name bromodomain containing 9provided by HGNC Primary source HGNC:HGNC:25818 See related Ensembl:ENSG00000028310 MIM:618465; AllianceGenome:HGNC:25818 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 PRO9856; SMARCI2; LAVS3040 Summary Enables lysine-acetylated histone binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.5), lymph node (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
BRD9P1, Official Symbol BRD9P1provided by HGNC Official Full Name bromodomain containing 9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51445 See related Ensembl:ENSG00000254736 AllianceGenome:HGNC:51445 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRD9P2, Official Symbol BRD9P2provided by HGNC Official Full Name bromodomain containing 9 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51446 See related Ensembl:ENSG00000249908 AllianceGenome:HGNC:51446 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRDT, Official Symbol BRDTprovided by HGNC Official Full Name bromodomain testis associatedprovided by HGNC Primary source HGNC:HGNC:1105 See related Ensembl:ENSG00000137948 MIM:602144; AllianceGenome:HGNC:1105 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 CT9; BRD6; SPGF21 Summary BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Expression Restricted expression toward testis (RPKM 59.8) See more Orthologs mouse all
BRDTP1, Official Symbol BRDTP1provided by HGNC Official Full Name bromodomain testis associated pseudogene 1provided by HGNC Primary source HGNC:HGNC:51447 See related Ensembl:ENSG00000271209 AllianceGenome:HGNC:51447 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRF1, Official Symbol BRF1provided by HGNC Official Full Name BRF1 RNA polymerase III transcription initiation factor subunitprovided by HGNC Primary source HGNC:HGNC:11551 See related Ensembl:ENSG00000185024 MIM:604902; AllianceGenome:HGNC:11551 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 BRF; CFDS; hBRF; BRF-1; GTF3B; TAF3C; TAF3B2; TF3B90; TAFIII90; TFIIIB90; HEL-S-76p Summary This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in fat (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
BRF2, Official Symbol BRF2provided by HGNC Official Full Name BRF2 RNA polymerase III transcription initiation factor subunitprovided by HGNC Primary source HGNC:HGNC:17298 See related Ensembl:ENSG00000104221 MIM:607013; AllianceGenome:HGNC:17298 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 BRFU; TFIIIB50 Summary This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 46.9), prostate (RPKM 42.0) and 24 other tissues See more Orthologs mouse all
BRI3, Official Symbol BRI3provided by HGNC Official Full Name brain protein I3provided by HGNC Primary source HGNC:HGNC:1109 See related Ensembl:ENSG00000164713 MIM:615628; AllianceGenome:HGNC:1109 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 I3 Summary Enables identical protein binding activity. Predicted to be located in azurophil granule membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 12.8), stomach (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
BRI3BP, Official Symbol BRI3BPprovided by HGNC Official Full Name BRI3 binding proteinprovided by HGNC Primary source HGNC:HGNC:14251 See related Ensembl:ENSG00000184992 MIM:615627; AllianceGenome:HGNC:14251 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 KG19; BNAS1; HCCR-1; HCCR-2; HCCRBP-1; HCCRBP-3 Summary Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 5.3), duodenum (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
BRI3BPP1, Official Symbol BRI3BPP1provided by HGNC Official Full Name BRI3 binding protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:51482 See related Ensembl:ENSG00000269136 AllianceGenome:HGNC:51482 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRI3P2, Official Symbol BRI3P2provided by HGNC Official Full Name brain protein I3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:32543 See related Ensembl:ENSG00000213736 AllianceGenome:HGNC:32543 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRICD5, Official Symbol BRICD5provided by HGNC Official Full Name BRICHOS domain containing 5provided by HGNC Primary source HGNC:HGNC:28309 See related Ensembl:ENSG00000182685 AllianceGenome:HGNC:28309 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 C16orf79 Summary Predicted to be involved in regulation of cell population proliferation. Predicted to be integral component of membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
BRINP1, Official Symbol BRINP1provided by HGNC Official Full Name BMP/retinoic acid inducible neural specific 1provided by HGNC Primary source HGNC:HGNC:2687 See related Ensembl:ENSG00000078725 MIM:602865; AllianceGenome:HGNC:2687 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 DBC1; FAM5A; DBCCR1 Summary This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 23.7) and adrenal (RPKM 2.3) See more Orthologs mouse all
BRINP2, Official Symbol BRINP2provided by HGNC Official Full Name BMP/retinoic acid inducible neural specific 2provided by HGNC Primary source HGNC:HGNC:13746 See related Ensembl:ENSG00000198797 MIM:619359; AllianceGenome:HGNC:13746 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 FAM5B; DBCCR1L2 Summary Predicted to be involved in cellular response to retinoic acid; negative regulation of mitotic cell cycle; and positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in dendrite; endoplasmic reticulum; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 11.7), adrenal (RPKM 4.6) and 1 other tissue See more Orthologs mouse all
BRINP3, Official Symbol BRINP3provided by HGNC Official Full Name BMP/retinoic acid inducible neural specific 3provided by HGNC Primary source HGNC:HGNC:22393 See related Ensembl:ENSG00000162670 MIM:618390; AllianceGenome:HGNC:22393 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 FAM5C; DBCCR1L; DBCCR1L1 Summary This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Biased expression in brain (RPKM 4.5), small intestine (RPKM 2.0) and 6 other tissues See more Orthologs mouse all
BRIP1, Official Symbol BRIP1provided by HGNC Official Full Name BRCA1 interacting helicase 1provided by HGNC Primary source HGNC:HGNC:20473 See related Ensembl:ENSG00000136492 MIM:605882; AllianceGenome:HGNC:20473 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 OF; BACH1; FANCJ Summary The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Annotation information Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018] Expression Broad expression in testis (RPKM 1.9), bone marrow (RPKM 1.0) and 16 other tissues See more Orthologs mouse all
BRIX1, Official Symbol BRIX1provided by HGNC Official Full Name biogenesis of ribosomes BRX1provided by HGNC Primary source HGNC:HGNC:24170 See related Ensembl:ENSG00000113460 MIM:618466; AllianceGenome:HGNC:24170 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 BRIX; BXDC2 Summary Enables RNA binding activity. Predicted to be involved in ribosomal large subunit assembly. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 18.1), bone marrow (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
BRIX1P1, Official Symbol BRIX1P1provided by HGNC Official Full Name BRIX1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51527 See related Ensembl:ENSG00000254025 AllianceGenome:HGNC:51527 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRK1, Official Symbol BRK1provided by HGNC Official Full Name BRICK1 subunit of SCAR/WAVE actin nucleating complexprovided by HGNC Primary source HGNC:HGNC:23057 See related Ensembl:ENSG00000254999 MIM:611183; AllianceGenome:HGNC:23057 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 MDS027; hHBrk1; C3orf10; HSPC300 Summary Enables identical protein binding activity. Contributes to small GTPase binding activity. Involved in Rac protein signal transduction and positive regulation of cellular component organization. Located in extracellular exosome. Part of SCAR complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 95.9), kidney (RPKM 81.0) and 25 other tissues See more Orthologs mouse all
BRK1P1, Official Symbol BRK1P1provided by HGNC Official Full Name BRICK1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42020 See related AllianceGenome:HGNC:42020 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRK1P2, Official Symbol BRK1P2provided by HGNC Official Full Name BRK1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42021 See related Ensembl:ENSG00000227983 AllianceGenome:HGNC:42021 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRME1, Official Symbol BRME1provided by HGNC Official Full Name break repair meiotic recombinase recruitment factor 1provided by HGNC Primary source HGNC:HGNC:28153 See related Ensembl:ENSG00000132016 MIM:619276; AllianceGenome:HGNC:28153 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 MEIOK21; C19orf57 Summary Predicted to be involved in meiosis I and spermatogenesis. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.4) and 17 other tissues See more Orthologs mouse all
BRMS1, Official Symbol BRMS1provided by HGNC Official Full Name BRMS1 transcriptional repressor and anoikis regulatorprovided by HGNC Primary source HGNC:HGNC:17262 See related Ensembl:ENSG00000174744 MIM:606259; AllianceGenome:HGNC:17262 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 reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 18.9), testis (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
BRMS1L, Official Symbol BRMS1Lprovided by HGNC Official Full Name BRMS1 like transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:20512 See related Ensembl:ENSG00000100916 MIM:618514; AllianceGenome:HGNC:20512 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 p40; BRMS1 Summary The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 7.3), adrenal (RPKM 4.6) and 24 other tissues See more Orthologs mouse all
BROX, Official Symbol BROXprovided by HGNC Official Full Name BRO1 domain and CAAX motif containingprovided by HGNC Primary source HGNC:HGNC:26512 See related Ensembl:ENSG00000162819 AllianceGenome:HGNC:26512 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 C1orf58 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 10.5), brain (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
BRPF1, Official Symbol BRPF1provided by HGNC Official Full Name bromodomain and PHD finger containing 1provided by HGNC Primary source HGNC:HGNC:14255 See related Ensembl:ENSG00000156983 MIM:602410; AllianceGenome:HGNC:14255 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 BR140; IDDDFP Summary This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
BRPF3, Official Symbol BRPF3provided by HGNC Official Full Name bromodomain and PHD finger containing 3provided by HGNC Primary source HGNC:HGNC:14256 See related Ensembl:ENSG00000096070 MIM:616856; AllianceGenome:HGNC:14256 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 enable histone binding activity. Involved in histone H3-K14 acetylation and positive regulation of DNA replication. Part of MOZ/MORF histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.9), kidney (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
BRS3, Official Symbol BRS3provided by HGNC Official Full Name bombesin receptor subtype 3provided by HGNC Primary source HGNC:HGNC:1113 See related Ensembl:ENSG00000102239 MIM:300107; AllianceGenome:HGNC:1113 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 BB3; BB3R; BBR3 Summary The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
BRSK1, Official Symbol BRSK1provided by HGNC Official Full Name BR serine/threonine kinase 1provided by HGNC Primary source HGNC:HGNC:18994 See related Ensembl:ENSG00000160469 MIM:609235; AllianceGenome:HGNC:18994 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 SAD-B; hSAD1 Summary Enables magnesium ion binding activity; protein serine/threonine kinase activity; and tau-protein kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 29.2), adrenal (RPKM 3.5) and 4 other tissues See more Orthologs mouse all
BRSK2, Official Symbol BRSK2provided by HGNC Official Full Name BR serine/threonine kinase 2provided by HGNC Primary source HGNC:HGNC:11405 See related Ensembl:ENSG00000174672 MIM:609236; AllianceGenome:HGNC:11405 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 SAD1; SADA; SAD-A; STK29; PEN11B; C11orf7 Summary Enables several functions, including ATP binding activity; ATPase binding activity; and protein kinase activity. Involved in several processes, including cellular protein metabolic process; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 8.8), pancreas (RPKM 3.6) and 2 other tissues See more Orthologs mouse all
BRWD1, Official Symbol BRWD1provided by HGNC Official Full Name bromodomain and WD repeat domain containing 1provided by HGNC Primary source HGNC:HGNC:12760 See related Ensembl:ENSG00000185658 MIM:617824; AllianceGenome:HGNC:12760 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 N143; WDR9; WRD9; CILD51; DCAF19; C21orf107 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
BRWD1-AS1, Official Symbol BRWD1-AS1provided by HGNC Official Full Name BRWD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40614 See related Ensembl:ENSG00000238141 AllianceGenome:HGNC:40614 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 Restricted expression toward testis (RPKM 2.0) See more
BRWD1-AS2, Official Symbol BRWD1-AS2provided by HGNC Official Full Name BRWD1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:16423 See related Ensembl:ENSG00000255568 AllianceGenome:HGNC:16423 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 C21orf87; BRWD1-IT2; NCRNA00257
BRWD1P3, Official Symbol BRWD1P3provided by HGNC Official Full Name bromodomain and WD repeat domain containing 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51530 See related Ensembl:ENSG00000232841 AllianceGenome:HGNC:51530 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BRWD3, Official Symbol BRWD3provided by HGNC Official Full Name bromodomain and WD repeat domain containing 3provided by HGNC Primary source HGNC:HGNC:17342 See related Ensembl:ENSG00000165288 MIM:300553; AllianceGenome:HGNC:17342 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 BRODL; MRX93; XLID93 Summary The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
BSCL2, Official Symbol BSCL2provided by HGNC Official Full Name BSCL2 lipid droplet biogenesis associated, seipinprovided by HGNC Primary source HGNC:HGNC:15832 See related Ensembl:ENSG00000168000 MIM:606158; AllianceGenome:HGNC:15832 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 HMN5; PELD; HMN5C; SPG17; GNG3LG Summary This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] Expression Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues See more Orthologs mouse all
BSDC1, Official Symbol BSDC1provided by HGNC Official Full Name BSD domain containing 1provided by HGNC Primary source HGNC:HGNC:25501 See related Ensembl:ENSG00000160058 MIM:617518; AllianceGenome:HGNC:25501 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 Expression Ubiquitous expression in testis (RPKM 21.8), adrenal (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
BSG, Official Symbol BSGprovided by HGNC Official Full Name basigin (Ok blood group)provided by HGNC Primary source HGNC:HGNC:1116 See related Ensembl:ENSG00000172270 MIM:109480; AllianceGenome:HGNC:1116 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 OK; 5F7; TCSF; CD147; EMPRIN; HAb18G; EMMPRIN Summary The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020] Expression Ubiquitous expression in heart (RPKM 230.6), colon (RPKM 194.1) and 25 other tissues See more Orthologs mouse all
BSG-AS1, Official Symbol BSG-AS1provided by HGNC Official Full Name BSG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55286 See related AllianceGenome:HGNC:55286 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 Broad expression in bone marrow (RPKM 3.2), testis (RPKM 1.1) and 18 other tissues See more
BSN, Official Symbol BSNprovided by HGNC Official Full Name bassoon presynaptic cytomatrix proteinprovided by HGNC Primary source HGNC:HGNC:1117 See related Ensembl:ENSG00000164061 MIM:604020; AllianceGenome:HGNC:1117 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 ZNF231 Summary Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 13.0), testis (RPKM 2.3) and 1 other tissue See more Orthologs mouse all
BSN-DT, Official Symbol BSN-DTprovided by HGNC Official Full Name BSN divergent transcriptprovided by HGNC Primary source HGNC:HGNC:42445 See related Ensembl:ENSG00000226913 AllianceGenome:HGNC:42445 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 BSN-AS2 Expression Biased expression in testis (RPKM 1.4) and brain (RPKM 0.2) See more
BSND, Official Symbol BSNDprovided by HGNC Official Full Name barttin CLCNK type accessory subunit betaprovided by HGNC Primary source HGNC:HGNC:16512 See related Ensembl:ENSG00000162399 MIM:606412; AllianceGenome:HGNC:16512 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 BART; DFNB73 Summary This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 9.3) See more Orthologs mouse all
BSNDP1, Official Symbol BSNDP1provided by HGNC Official Full Name BSND pseudogene 1provided by HGNC Primary source HGNC:HGNC:51536 See related Ensembl:ENSG00000275048 AllianceGenome:HGNC:51536 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BSNDP3, Official Symbol BSNDP3provided by HGNC Official Full Name BSND pseudogene 3provided by HGNC Primary source HGNC:HGNC:51538 See related Ensembl:ENSG00000277508 AllianceGenome:HGNC:51538 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BSNDP4, Official Symbol BSNDP4provided by HGNC Official Full Name BSND pseudogene 4provided by HGNC Primary source HGNC:HGNC:51539 See related Ensembl:ENSG00000229627 AllianceGenome:HGNC:51539 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BSPH1, Official Symbol BSPH1provided by HGNC Official Full Name binder of sperm protein homolog 1provided by HGNC Primary source HGNC:HGNC:33906 See related Ensembl:ENSG00000188334 MIM:612213; AllianceGenome:HGNC:33906 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 BSP1; ELSPBP2 Summary Predicted to enable heparin binding activity. Predicted to be involved in sperm capacitation. Predicted to be located in extracellular region. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BSPRY, Official Symbol BSPRYprovided by HGNC Official Full Name B-box and SPRY domain containingprovided by HGNC Primary source HGNC:HGNC:18232 See related Ensembl:ENSG00000119411 MIM:619683; AllianceGenome:HGNC:18232 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 enable ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cell leading edge; membrane; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 21.8), salivary gland (RPKM 19.5) and 16 other tissues See more Orthologs mouse all
BST1, Official Symbol BST1provided by HGNC Official Full Name bone marrow stromal cell antigen 1provided by HGNC Primary source HGNC:HGNC:1118 See related Ensembl:ENSG00000109743 MIM:600387; AllianceGenome:HGNC:1118 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 CD157; cADPR2 Summary Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 14.1), duodenum (RPKM 6.3) and 23 other tissues See more Orthologs mouse all
BST2, Official Symbol BST2provided by HGNC Official Full Name bone marrow stromal cell antigen 2provided by HGNC Primary source HGNC:HGNC:1119 See related Ensembl:ENSG00000130303 MIM:600534; AllianceGenome:HGNC:1119 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 CD317; HM1.24; TETHERIN Summary Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 235.4), adrenal (RPKM 135.4) and 22 other tissues See more Orthologs mouse all
BSX, Official Symbol BSXprovided by HGNC Official Full Name brain specific homeoboxprovided by HGNC Primary source HGNC:HGNC:20450 See related Ensembl:ENSG00000188909 MIM:611074; AllianceGenome:HGNC:20450 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 BSX1 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including eating behavior; mammary gland involution; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
BTAF1, Official Symbol BTAF1provided by HGNC Official Full Name B-TFIID TATA-box binding protein associated factor 1provided by HGNC Primary source HGNC:HGNC:17307 See related Ensembl:ENSG00000095564 MIM:605191; AllianceGenome:HGNC:17307 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 MOT1; TAF172; TAFII170; TAF(II)170 Summary This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in skin (RPKM 23.9), lymph node (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
BTBD1, Official Symbol BTBD1provided by HGNC Official Full Name BTB domain containing 1provided by HGNC Primary source HGNC:HGNC:1120 See related Ensembl:ENSG00000064726 MIM:608530; AllianceGenome:HGNC:1120 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 C15orf1; NS5ATP8 Summary The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 40.3), testis (RPKM 36.9) and 25 other tissues See more Orthologs mouse all
BTBD10, Official Symbol BTBD10provided by HGNC Official Full Name BTB domain containing 10provided by HGNC Primary source HGNC:HGNC:21445 See related Ensembl:ENSG00000148925 MIM:615933; AllianceGenome:HGNC:21445 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 GMRP1; GMRP-1 Summary Predicted to be involved in negative regulation of neuron death; positive regulation of phosphorylation; and type B pancreatic cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 12.4) and 24 other tissues See more Orthologs mouse all
BTBD10P1, Official Symbol BTBD10P1provided by HGNC Official Full Name BTB domain containing 10 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51540 See related Ensembl:ENSG00000257675 AllianceGenome:HGNC:51540 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo