psui3905/ncbi_genes_summary huggingface dataset:
BARX1-DT, Official Symbol BARX1-DTprovided by HGNC Official Full Name BARX1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:50673 See related Ensembl:ENSG00000235601 AllianceGenome:HGNC:50673 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 BARX1-AS1
BARX2, Official Symbol BARX2provided by HGNC Official Full Name BARX homeobox 2provided by HGNC Primary source HGNC:HGNC:956 See related Ensembl:ENSG00000043039 MIM:604823; AllianceGenome:HGNC:956 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 46.6), salivary gland (RPKM 29.6) and 9 other tissues See more Orthologs mouse all
BASP1, Official Symbol BASP1provided by HGNC Official Full Name brain abundant membrane attached signal protein 1provided by HGNC Primary source HGNC:HGNC:957 See related Ensembl:ENSG00000176788 MIM:605940; AllianceGenome:HGNC:957 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 CAP23; NAP22; CAP-23; NAP-22 Summary This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012] Expression Biased expression in brain (RPKM 144.2), prostate (RPKM 45.3) and 10 other tissues See more Orthologs mouse all
BASP1-AS1, Official Symbol BASP1-AS1provided by HGNC Official Full Name BASP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26609 See related Ensembl:ENSG00000215196 AllianceGenome:HGNC:26609 Gene type ncRNA RefSeq status PREDICTED 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
BASP1P1, Official Symbol BASP1P1provided by HGNC Official Full Name BASP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39418 See related AllianceGenome:HGNC:39418 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BATF, Official Symbol BATFprovided by HGNC Official Full Name basic leucine zipper ATF-like transcription factorprovided by HGNC Primary source HGNC:HGNC:958 See related Ensembl:ENSG00000156127 MIM:612476; AllianceGenome:HGNC:958 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 SFA2; B-ATF; BATF1; SFA-2 Summary The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 11.0), appendix (RPKM 9.8) and 14 other tissues See more Orthologs mouse all
BATF2, Official Symbol BATF2provided by HGNC Official Full Name basic leucine zipper ATF-like transcription factor 2provided by HGNC Primary source HGNC:HGNC:25163 See related Ensembl:ENSG00000168062 MIM:614983; AllianceGenome:HGNC:25163 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 SARI Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in defense response to protozoan; myeloid dendritic cell differentiation; and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 7.0), appendix (RPKM 4.9) and 23 other tissues See more Orthologs mouse all
BATF3, Official Symbol BATF3provided by HGNC Official Full Name basic leucine zipper ATF-like transcription factor 3provided by HGNC Primary source HGNC:HGNC:28915 See related Ensembl:ENSG00000123685 MIM:612470; AllianceGenome:HGNC:28915 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 JDP1; SNFT; JUNDM1 Summary This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009] Expression Broad expression in spleen (RPKM 2.9), appendix (RPKM 1.9) and 20 other tissues See more Orthologs mouse all
BAX, Official Symbol BAXprovided by HGNC Official Full Name BCL2 associated X, apoptosis regulatorprovided by HGNC Primary source HGNC:HGNC:959 See related Ensembl:ENSG00000087088 MIM:600040; AllianceGenome:HGNC:959 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 BCL2L4 Summary The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019] Expression Ubiquitous expression in colon (RPKM 24.0), spleen (RPKM 21.8) and 25 other tissues See more Orthologs mouse all
BAZ1A, Official Symbol BAZ1Aprovided by HGNC Official Full Name bromodomain adjacent to zinc finger domain 1Aprovided by HGNC Primary source HGNC:HGNC:960 See related Ensembl:ENSG00000198604 MIM:605680; AllianceGenome:HGNC:960 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 ACF1; WALp1; hACF1; WCRF180 Summary The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] Expression Broad expression in testis (RPKM 18.1), bone marrow (RPKM 15.8) and 24 other tissues See more Orthologs mouse all
BAZ1B, Official Symbol BAZ1Bprovided by HGNC Official Full Name bromodomain adjacent to zinc finger domain 1Bprovided by HGNC Primary source HGNC:HGNC:961 See related Ensembl:ENSG00000009954 MIM:605681; AllianceGenome:HGNC:961 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 WSTF; WBSCR9; WBSCR10 Summary This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 15.7), ovary (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
BAZ2A, Official Symbol BAZ2Aprovided by HGNC Official Full Name bromodomain adjacent to zinc finger domain 2Aprovided by HGNC Primary source HGNC:HGNC:962 See related Ensembl:ENSG00000076108 MIM:605682; AllianceGenome:HGNC:962 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 TIP5; WALp3 Summary Enables histone binding activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Predicted to be involved in DNA methylation; histone deacetylation; and negative regulation of macromolecule metabolic process. Predicted to act upstream of or within chromatin organization and histone modification. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 26.6), placenta (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
BAZ2B, Official Symbol BAZ2Bprovided by HGNC Official Full Name bromodomain adjacent to zinc finger domain 2Bprovided by HGNC Primary source HGNC:HGNC:963 See related Ensembl:ENSG00000123636 MIM:605683; AllianceGenome:HGNC:963 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 WALp4 Summary This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in testis (RPKM 7.8), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
BBC3, Official Symbol BBC3provided by HGNC Official Full Name BCL2 binding component 3provided by HGNC Primary source HGNC:HGNC:17868 See related Ensembl:ENSG00000105327 MIM:605854; AllianceGenome:HGNC:17868 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 JFY1; PUMA; JFY-1 Summary This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in colon (RPKM 3.5), stomach (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
BBIP1, Official Symbol BBIP1provided by HGNC Official Full Name BBSome interacting protein 1provided by HGNC Primary source HGNC:HGNC:28093 See related Ensembl:ENSG00000214413 MIM:613605; AllianceGenome:HGNC:28093 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 BBS18; BBIP10; bA348N5.3; NCRNA00081 Summary This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Annotation information Note: This gene, previously thought to be non-coding and described as NCRNA00081, is represented as protein coding based on evaluation of the transcript data and evidence that a functional protein exists presented in PMID: 19081074. [02 Sep 2010] Expression Broad expression in testis (RPKM 16.1), brain (RPKM 5.2) and 23 other tissues See more Orthologs mouse all
BBIP1P1, Official Symbol BBIP1P1provided by HGNC Official Full Name BBSome interacting protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52781 See related Ensembl:ENSG00000271532 AllianceGenome:HGNC:52781 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BBOF1, Official Symbol BBOF1provided by HGNC Official Full Name basal body orientation factor 1provided by HGNC Primary source HGNC:HGNC:19855 See related Ensembl:ENSG00000119636 MIM:620496; AllianceGenome:HGNC:19855 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 FBB10; CCDC176; C14orf45 Summary Predicted to be involved in motile cilium assembly. Predicted to be located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 30.8), liver (RPKM 16.1) and 17 other tissues See more Orthologs mouse all
BBOX1, Official Symbol BBOX1provided by HGNC Official Full Name gamma-butyrobetaine hydroxylase 1provided by HGNC Primary source HGNC:HGNC:964 See related Ensembl:ENSG00000129151 MIM:603312; AllianceGenome:HGNC:964 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 BBH; BBOX; G-BBH; gamma-BBH Summary This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues See more Orthologs mouse all
BBOX1-AS1, Official Symbol BBOX1-AS1provided by HGNC Official Full Name BBOX1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50700 See related Ensembl:ENSG00000254560 AllianceGenome:HGNC:50700 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
BBS1, Official Symbol BBS1provided by HGNC Official Full Name Bardet-Biedl syndrome 1provided by HGNC Primary source HGNC:HGNC:966 See related Ensembl:ENSG00000174483 MIM:209901; AllianceGenome:HGNC:966 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 BBS2L2 Summary Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 19.8), kidney (RPKM 18.2) and 25 other tissues See more Orthologs mouse all
BBS10, Official Symbol BBS10provided by HGNC Official Full Name Bardet-Biedl syndrome 10provided by HGNC Primary source HGNC:HGNC:26291 See related Ensembl:ENSG00000179941 MIM:610148; AllianceGenome:HGNC:26291 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 C12orf58 Summary This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) and 24 other tissues See more Orthologs mouse all
BBS12, Official Symbol BBS12provided by HGNC Official Full Name Bardet-Biedl syndrome 12provided by HGNC Primary source HGNC:HGNC:26648 See related Ensembl:ENSG00000181004 MIM:610683; AllianceGenome:HGNC:26648 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 C4orf24 Summary The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Expression Broad expression in thyroid (RPKM 5.9), testis (RPKM 4.6) and 22 other tissues See more Orthologs mouse all
BBS2, Official Symbol BBS2provided by HGNC Official Full Name Bardet-Biedl syndrome 2provided by HGNC Primary source HGNC:HGNC:967 See related Ensembl:ENSG00000125124 MIM:606151; AllianceGenome:HGNC:967 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 BBS; RP74 Summary This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014] Expression Ubiquitous expression in adrenal (RPKM 37.8), brain (RPKM 22.6) and 24 other tissues See more Orthologs mouse all
BBS4, Official Symbol BBS4provided by HGNC Official Full Name Bardet-Biedl syndrome 4provided by HGNC Primary source HGNC:HGNC:969 See related Ensembl:ENSG00000140463 MIM:600374; AllianceGenome:HGNC:969 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 is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
BBS5, Official Symbol BBS5provided by HGNC Official Full Name Bardet-Biedl syndrome 5provided by HGNC Primary source HGNC:HGNC:970 See related Ensembl:ENSG00000163093 MIM:603650; AllianceGenome:HGNC:970 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 7.2), thyroid (RPKM 4.0) and 22 other tissues See more Orthologs mouse all
BBS7, Official Symbol BBS7provided by HGNC Official Full Name Bardet-Biedl syndrome 7provided by HGNC Primary source HGNC:HGNC:18758 See related Ensembl:ENSG00000138686 MIM:607590; AllianceGenome:HGNC:18758 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 BBS2L1 Summary This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014] Expression Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 3.7) and 24 other tissues See more Orthologs mouse all
BBS9, Official Symbol BBS9provided by HGNC Official Full Name Bardet-Biedl syndrome 9provided by HGNC Primary source HGNC:HGNC:30000 See related Ensembl:ENSG00000122507 MIM:607968; AllianceGenome:HGNC:30000 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 B1; D1; C18; PTHB1 Summary This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017] Expression Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
BBX, Official Symbol BBXprovided by HGNC Official Full Name BBX high mobility group box domain containingprovided by HGNC Primary source HGNC:HGNC:14422 See related Ensembl:ENSG00000114439 AllianceGenome:HGNC:14422 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 HBP2; ARTC1; MDS001; HSPC339 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 bone development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 26.5), thyroid (RPKM 14.4) and 24 other tissues See more Orthologs mouse all
BCAM, Official Symbol BCAMprovided by HGNC Official Full Name basal cell adhesion molecule (Lutheran blood group)provided by HGNC Primary source HGNC:HGNC:6722 See related Ensembl:ENSG00000187244 MIM:612773; AllianceGenome:HGNC:6722 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 AU; LU; B-CAM; CD239; MSK19; F8/G253 Summary This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Broad expression in kidney (RPKM 99.8), prostate (RPKM 62.6) and 19 other tissues See more Orthologs mouse all
BCAN, Official Symbol BCANprovided by HGNC Official Full Name brevicanprovided by HGNC Primary source HGNC:HGNC:23059 See related Ensembl:ENSG00000132692 MIM:600347; AllianceGenome:HGNC:23059 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 BEHAB; CSPG7 Summary This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Restricted expression toward brain (RPKM 121.6) See more Orthologs mouse all
BCAP29, Official Symbol BCAP29provided by HGNC Official Full Name B cell receptor associated protein 29provided by HGNC Primary source HGNC:HGNC:24131 See related Ensembl:ENSG00000075790 MIM:619612; AllianceGenome:HGNC:24131 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 B29; BAP29 Summary Involved in osteoblast differentiation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 16.0) and 24 other tissues See more Orthologs mouse all
BCAP31, Official Symbol BCAP31provided by HGNC Official Full Name B cell receptor associated protein 31provided by HGNC Primary source HGNC:HGNC:16695 See related Ensembl:ENSG00000185825 MIM:300398; AllianceGenome:HGNC:16695 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 CDM; DDCH; BAP31; 6C6-AG; DELXQ28; DXS1357E; MICRODELXq28 Summary This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in fat (RPKM 94.9), adrenal (RPKM 52.3) and 25 other tissues See more Orthologs mouse all
BCAP31P1, Official Symbol BCAP31P1provided by HGNC Official Full Name B cell receptor associated protein 31 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51323 See related Ensembl:ENSG00000261217 AllianceGenome:HGNC:51323 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCAP31P2, Official Symbol BCAP31P2provided by HGNC Official Full Name B cell receptor associated protein 31 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51324 See related Ensembl:ENSG00000260047 AllianceGenome:HGNC:51324 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCAR1, Official Symbol BCAR1provided by HGNC Official Full Name BCAR1 scaffold protein, Cas family memberprovided by HGNC Primary source HGNC:HGNC:971 See related Ensembl:ENSG00000050820 MIM:602941; AllianceGenome:HGNC:971 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 CAS; CAS1; CASS1; CRKAS; P130Cas Summary The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017] Expression Broad expression in spleen (RPKM 6.5), kidney (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
BCAR1P1, Official Symbol BCAR1P1provided by HGNC Official Full Name BCAR1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51325 See related Ensembl:ENSG00000258397 AllianceGenome:HGNC:51325 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCAR1P2, Official Symbol BCAR1P2provided by HGNC Official Full Name BCAR1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51326 See related Ensembl:ENSG00000258771 AllianceGenome:HGNC:51326 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCAR3, Official Symbol BCAR3provided by HGNC Official Full Name BCAR3 adaptor protein, NSP family memberprovided by HGNC Primary source HGNC:HGNC:973 See related Ensembl:ENSG00000137936 MIM:604704; AllianceGenome:HGNC:973 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 MIG7; NSP2; AND-34; SH2D3B Summary Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in fat (RPKM 13.8), placenta (RPKM 6.5) and 23 other tissues See more Orthologs mouse all
BCAR4, Official Symbol BCAR4provided by HGNC Official Full Name breast cancer anti-estrogen resistance 4provided by HGNC Primary source HGNC:HGNC:22170 See related Ensembl:ENSG00000262117 MIM:613746; AllianceGenome:HGNC:22170 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene produces a spliced long non-coding RNA (lncRNA) that has been implicated in breast cancer metastasis. It was originally identified in a screen for genes responsible for the development of resistance to anti-estrogens in breast cancer cells. It is thought that release of CCL21 enables this lncRNA to bind to the SNIP1 and PNUTS transcription factors, thereby activating a non-canonical GLI-dependent hedgehog signaling pathway that promotes cancer cell migration and invasion. A similar gene in cow expresses a protein in mature oocytes and preimplantation embryos. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2015] Expression Restricted expression toward placenta (RPKM 8.2) See more Orthologs all
BCAS1, Official Symbol BCAS1provided by HGNC Official Full Name brain enriched myelin associated protein 1provided by HGNC Primary source HGNC:HGNC:974 See related Ensembl:ENSG00000064787 MIM:602968; AllianceGenome:HGNC:974 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 AIBC1; NABC1; PMES-2 Summary This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016] Expression Biased expression in stomach (RPKM 58.5), colon (RPKM 41.1) and 7 other tissues See more Orthologs mouse all
BCAS2, Official Symbol BCAS2provided by HGNC Official Full Name BCAS2 pre-mRNA processing factorprovided by HGNC Primary source HGNC:HGNC:975 See related Ensembl:ENSG00000116752 MIM:605783; AllianceGenome:HGNC:975 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 DAM1; SPF27; Snt309 Summary Involved in mRNA splicing, via spliceosome. Located in centrosome and nuclear speck. Part of U2-type catalytic step 2 spliceosome. Colocalizes with DNA replication factor A complex. Implicated in breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 27.2), brain (RPKM 25.4) and 25 other tissues See more Orthologs mouse all
BCAS2P3, Official Symbol BCAS2P3provided by HGNC Official Full Name BCAS2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39596 See related AllianceGenome:HGNC:39596 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BCAS3, Official Symbol BCAS3provided by HGNC Official Full Name BCAS3 microtubule associated cell migration factorprovided by HGNC Primary source HGNC:HGNC:14347 See related Ensembl:ENSG00000141376 MIM:607470; AllianceGenome:HGNC:14347 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 MAAB; GAOB1; PHAF2; HEMARS Summary Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in nucleus; phagophore assembly site; and transcriptionally active chromatin. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
BCAS4, Official Symbol BCAS4provided by HGNC Official Full Name breast carcinoma amplified sequence 4provided by HGNC Primary source HGNC:HGNC:14367 See related Ensembl:ENSG00000124243 MIM:607471; AllianceGenome:HGNC:14367 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 CNOL Summary Predicted to be part of BLOC-1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 5.4), appendix (RPKM 2.0) and 18 other tissues See more Orthologs all
BCAT1, Official Symbol BCAT1provided by HGNC Official Full Name branched chain amino acid transaminase 1provided by HGNC Primary source HGNC:HGNC:976 See related Ensembl:ENSG00000060982 MIM:113520; AllianceGenome:HGNC:976 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 BCT1; PP18; BCATC; ECA39; MECA39; PNAS121 Summary This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] Expression Broad expression in placenta (RPKM 7.3), pancreas (RPKM 6.7) and 22 other tissues See more Orthologs mouse all
BCAT2, Official Symbol BCAT2provided by HGNC Official Full Name branched chain amino acid transaminase 2provided by HGNC Primary source HGNC:HGNC:977 See related Ensembl:ENSG00000105552 MIM:113530; AllianceGenome:HGNC:977 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 BCAM; BCT2; HVLI; PP18; BCATM Summary This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
BCCIP, Official Symbol BCCIPprovided by HGNC Official Full Name BRCA2 and CDKN1A interacting proteinprovided by HGNC Primary source HGNC:HGNC:978 See related Ensembl:ENSG00000107949 MIM:611883; AllianceGenome:HGNC:978 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 TOK1; TOK-1 Summary This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.0), ovary (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
BCDIN3D, Official Symbol BCDIN3Dprovided by HGNC Official Full Name BCDIN3 domain containing RNA methyltransferaseprovided by HGNC Primary source HGNC:HGNC:27050 See related Ensembl:ENSG00000186666 MIM:619601; AllianceGenome:HGNC:27050 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine binding domain and uses the methyl group donor, S-adenosylmethionine. This gene is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. The encoded protein is thought to promote the cellular invasion of breast cancer cells, by downregulating the expression of tumor suppressor miRNAs through the dimethylation of the 5-monophosphate of the corresponding precursor miRNAs. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in prostate (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
BCDIN3D-AS1, Official Symbol BCDIN3D-AS1provided by HGNC Official Full Name BCDIN3D antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44113 See related Ensembl:ENSG00000258057 AllianceGenome:HGNC:44113 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 brain (RPKM 2.2), prostate (RPKM 2.2) and 25 other tissues See more