psui3905/ncbi_genes_summary huggingface dataset:
BTBD10P2, Official Symbol BTBD10P2provided by HGNC Official Full Name BTB domain containing 10 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51541 See related AllianceGenome:HGNC:51541 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BTBD16, Official Symbol BTBD16provided by HGNC Official Full Name BTB domain containing 16provided by HGNC Primary source HGNC:HGNC:26340 See related Ensembl:ENSG00000138152 AllianceGenome:HGNC:26340 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 C10orf87 Summary This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016] Expression Biased expression in urinary bladder (RPKM 4.3), testis (RPKM 2.5) and 2 other tissues See more Orthologs mouse all
BTBD17, Official Symbol BTBD17provided by HGNC Official Full Name BTB domain containing 17provided by HGNC Primary source HGNC:HGNC:33758 See related Ensembl:ENSG00000204347 AllianceGenome:HGNC:33758 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 BTBD17A; TANGO10A; LGALS3BPL Summary Predicted to be involved in negative regulation of viral genome replication and response to virus. Predicted to be located in plasma membrane. Predicted to colocalize with cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.8), stomach (RPKM 0.2) and 1 other tissue See more Orthologs mouse all
BTBD18, Official Symbol BTBD18provided by HGNC Official Full Name BTB domain containing 18provided by HGNC Primary source HGNC:HGNC:37214 See related Ensembl:ENSG00000233436 AllianceGenome:HGNC:37214 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in several processes, including male gamete generation; piRNA biosynthetic process; and positive regulation of transcription elongation from RNA polymerase II promoter. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.6), adrenal (RPKM 1.4) and 18 other tissues See more Orthologs mouse all
BTBD19, Official Symbol BTBD19provided by HGNC Official Full Name BTB domain containing 19provided by HGNC Primary source HGNC:HGNC:27145 See related Ensembl:ENSG00000222009 AllianceGenome:HGNC:27145 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 endometrium (RPKM 2.8), gall bladder (RPKM 1.9) and 24 other tissues See more Orthologs mouse all
BTBD2, Official Symbol BTBD2provided by HGNC Official Full Name BTB domain containing 2provided by HGNC Primary source HGNC:HGNC:15504 See related Ensembl:ENSG00000133243 MIM:608531; AllianceGenome:HGNC:15504 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 26.1), kidney (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
BTBD3, Official Symbol BTBD3provided by HGNC Official Full Name BTB domain containing 3provided by HGNC Primary source HGNC:HGNC:15854 See related Ensembl:ENSG00000132640 MIM:615566; AllianceGenome:HGNC:15854 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 dJ742J24.1 Summary Enables identical protein binding activity. Predicted to be involved in cerebral cortex development and dendrite morphogenesis. Predicted to be located in nucleus. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 23.1), brain (RPKM 20.6) and 25 other tissues See more Orthologs mouse all
BTBD6, Official Symbol BTBD6provided by HGNC Official Full Name BTB domain containing 6provided by HGNC Primary source HGNC:HGNC:19897 See related Ensembl:ENSG00000184887 AllianceGenome:HGNC:19897 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 BDPL Summary Predicted to be involved in neurogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 41.1), testis (RPKM 32.0) and 24 other tissues See more Orthologs mouse all
BTBD7, Official Symbol BTBD7provided by HGNC Official Full Name BTB domain containing 7provided by HGNC Primary source HGNC:HGNC:18269 See related Ensembl:ENSG00000011114 MIM:610386; AllianceGenome:HGNC:18269 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 FUP1 Summary Predicted to be involved in regulation of branching involved in salivary gland morphogenesis. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 8.5), endometrium (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
BTBD7P2, Official Symbol BTBD7P2provided by HGNC Official Full Name BTB domain containing 7 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44876 See related Ensembl:ENSG00000237618 AllianceGenome:HGNC:44876 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BTBD8, Official Symbol BTBD8provided by HGNC Official Full Name BTB domain containing 8provided by HGNC Primary source HGNC:HGNC:21019 See related Ensembl:ENSG00000189195 MIM:617945; AllianceGenome:HGNC:21019 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 KIAA1107 Summary Predicted to be involved in clathrin-dependent synaptic vesicle endocytosis; neuron projection development; and synaptic vesicle budding from endosome. Located in nucleoplasm. Colocalizes with AP-2 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.4), brain (RPKM 1.1) and 24 other tissues See more Orthologs mouse all
BTBD9, Official Symbol BTBD9provided by HGNC Official Full Name BTB domain containing 9provided by HGNC Primary source HGNC:HGNC:21228 See related Ensembl:ENSG00000183826 MIM:611237; AllianceGenome:HGNC:21228 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 dJ322I12.1 Summary This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 4.8), lung (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
BTBD9-AS1, Official Symbol BTBD9-AS1provided by HGNC Official Full Name BTBD9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40959 See related Ensembl:ENSG00000226533 AllianceGenome:HGNC:40959 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 1.2) See more
BTC, Official Symbol BTCprovided by HGNC Official Full Name betacellulinprovided by HGNC Primary source HGNC:HGNC:1121 See related Ensembl:ENSG00000174808 MIM:600345; AllianceGenome:HGNC:1121 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 epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015] Expression Broad expression in skin (RPKM 3.9), esophagus (RPKM 3.5) and 18 other tissues See more Orthologs mouse all
BTD, Official Symbol BTDprovided by HGNC Official Full Name biotinidaseprovided by HGNC Primary source HGNC:HGNC:1122 See related Ensembl:ENSG00000169814 MIM:609019; AllianceGenome:HGNC:1122 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
BTF3, Official Symbol BTF3provided by HGNC Official Full Name basic transcription factor 3provided by HGNC Primary source HGNC:HGNC:1125 See related Ensembl:ENSG00000145741 MIM:602542; AllianceGenome:HGNC:1125 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 NACB; BTF3a; BTF3b; BETA-NAC Summary This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 354.7), bone marrow (RPKM 186.5) and 25 other tissues See more Orthologs mouse all
BTF3-DT, Official Symbol BTF3-DTprovided by HGNC Official Full Name BTF3 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55211 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
BTF3L4, Official Symbol BTF3L4provided by HGNC Official Full Name basic transcription factor 3 like 4provided by HGNC Primary source HGNC:HGNC:30547 See related Ensembl:ENSG00000134717 AllianceGenome:HGNC:30547 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 thyroid (RPKM 12.4), adrenal (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
BTF3P10, Official Symbol BTF3P10provided by HGNC Official Full Name basic transcription factor 3 pseudogene 10provided by HGNC Primary source HGNC:HGNC:38570 See related AllianceGenome:HGNC:38570 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAET1J
BTF3P12, Official Symbol BTF3P12provided by HGNC Official Full Name basic transcription factor 3 pseudogene 12provided by HGNC Primary source HGNC:HGNC:1127 See related MIM:603738; AllianceGenome:HGNC:1127 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTF3L2; HUMBTFC Summary This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq]
BTF3P13, Official Symbol BTF3P13provided by HGNC Official Full Name basic transcription factor 3 pseudogene 13provided by HGNC Primary source HGNC:HGNC:1128 See related MIM:603739; AllianceGenome:HGNC:1128 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTF3L3; HUMBTFD Summary This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq, Jul 2008]
BTF3P14, Official Symbol BTF3P14provided by HGNC Official Full Name basic transcription factor 3 pseudogene 14provided by HGNC Primary source HGNC:HGNC:38571 See related Ensembl:ENSG00000262609 AllianceGenome:HGNC:38571 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BTF3P6, Official Symbol BTF3P6provided by HGNC Official Full Name basic transcription factor 3 pseudogene 6provided by HGNC Primary source HGNC:HGNC:23765 See related Ensembl:ENSG00000233956 AllianceGenome:HGNC:23765 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BTG1, Official Symbol BTG1provided by HGNC Official Full Name BTG anti-proliferation factor 1provided by HGNC Primary source HGNC:HGNC:1130 See related Ensembl:ENSG00000133639 MIM:109580; AllianceGenome:HGNC:1130 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 APRO2 Summary This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in bone marrow (RPKM 117.9), lymph node (RPKM 72.6) and 25 other tissues See more Orthologs mouse all
BTG2, Official Symbol BTG2provided by HGNC Official Full Name BTG anti-proliferation factor 2provided by HGNC Primary source HGNC:HGNC:1131 See related Ensembl:ENSG00000159388 MIM:601597; AllianceGenome:HGNC:1131 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 PC3; APRO1; TIS21 Summary The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 185.2), esophagus (RPKM 183.2) and 23 other tissues See more Orthologs mouse all
BTG3, Official Symbol BTG3provided by HGNC Official Full Name BTG anti-proliferation factor 3provided by HGNC Primary source HGNC:HGNC:1132 See related Ensembl:ENSG00000154640 MIM:605674; AllianceGenome:HGNC:1132 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 ANA; TOB5; TOFA; APRO4; TOB55; ANA/BTG3 Summary The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in testis (RPKM 24.4), placenta (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
BTG3-AS1, Official Symbol BTG3-AS1provided by HGNC Official Full Name BTG3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53145 See related Ensembl:ENSG00000280594 AllianceGenome:HGNC:53145 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 ASBEL
BTG3P1, Official Symbol BTG3P1provided by HGNC Official Full Name BTG anti-proliferation factor 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51543 See related Ensembl:ENSG00000235334 AllianceGenome:HGNC:51543 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BTG4, Official Symbol BTG4provided by HGNC Official Full Name BTG anti-proliferation factor 4provided by HGNC Primary source HGNC:HGNC:13862 See related Ensembl:ENSG00000137707 MIM:605673; AllianceGenome:HGNC:13862 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 PC3B; APRO3; OOMD8; OZEMA8 Summary The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 4.9) See more Orthologs mouse all
BTK, Official Symbol BTKprovided by HGNC Official Full Name Bruton tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:1133 See related Ensembl:ENSG00000010671 MIM:300300; AllianceGenome:HGNC:1133 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 AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1 Summary The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] Expression Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues See more Orthologs mouse all
BTLA, Official Symbol BTLAprovided by HGNC Official Full Name B and T lymphocyte associatedprovided by HGNC Primary source HGNC:HGNC:21087 See related Ensembl:ENSG00000186265 MIM:607925; AllianceGenome:HGNC:21087 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 BTLA1; CD272 Summary This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] Expression Biased expression in lymph node (RPKM 5.9), appendix (RPKM 3.2) and 7 other tissues See more Orthologs mouse all
BTN1A1, Official Symbol BTN1A1provided by HGNC Official Full Name butyrophilin subfamily 1 member A1provided by HGNC Primary source HGNC:HGNC:1135 See related Ensembl:ENSG00000124557 MIM:601610; AllianceGenome:HGNC:1135 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 BT; BTN; BTN1 Summary Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
BTN2A1, Official Symbol BTN2A1provided by HGNC Official Full Name butyrophilin subfamily 2 member A1provided by HGNC Primary source HGNC:HGNC:1136 See related Ensembl:ENSG00000112763 MIM:613590; AllianceGenome:HGNC:1136 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 BTF1; BT2.1; BTN2.1; DJ3E1.1; BK14H9.1 Summary This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in spleen (RPKM 14.7), appendix (RPKM 11.4) and 25 other tissues See more Orthologs all
BTN2A2, Official Symbol BTN2A2provided by HGNC Official Full Name butyrophilin subfamily 2 member A2provided by HGNC Primary source HGNC:HGNC:1137 See related Ensembl:ENSG00000124508 MIM:613591; AllianceGenome:HGNC:1137 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 BTF2; BT2.2; BTN2.2 Summary Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Expression Broad expression in lymph node (RPKM 8.9), appendix (RPKM 6.5) and 24 other tissues See more Orthologs all
BTN2A3P, Official Symbol BTN2A3Pprovided by HGNC Official Full Name butyrophilin subfamily 2 member A3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:13229 See related Ensembl:ENSG00000291104 MIM:613592; AllianceGenome:HGNC:13229 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTN2.3; BTN2A3 Summary The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in endometrium (RPKM 1.5), spleen (RPKM 1.4) and 24 other tissues See more
BTN3A1, Official Symbol BTN3A1provided by HGNC Official Full Name butyrophilin subfamily 3 member A1provided by HGNC Primary source HGNC:HGNC:1138 See related Ensembl:ENSG00000026950 MIM:613593; AllianceGenome:HGNC:1138 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 BTF5; BT3.1; CD277; BTN3.1 Summary The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in spleen (RPKM 25.4), lymph node (RPKM 18.1) and 24 other tissues See more Orthologs all
BTN3A2, Official Symbol BTN3A2provided by HGNC Official Full Name butyrophilin subfamily 3 member A2provided by HGNC Primary source HGNC:HGNC:1139 See related Ensembl:ENSG00000186470 MIM:613594; AllianceGenome:HGNC:1139 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 BTF4; BT3.2; CD277; BTN3.2 Summary This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in spleen (RPKM 42.7), appendix (RPKM 22.0) and 24 other tissues See more Orthologs all
BTN3A3, Official Symbol BTN3A3provided by HGNC Official Full Name butyrophilin subfamily 3 member A3provided by HGNC Primary source HGNC:HGNC:1140 See related Ensembl:ENSG00000111801 MIM:613595; AllianceGenome:HGNC:1140 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 BTF3; BTN3.3 Summary The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in spleen (RPKM 36.1), lymph node (RPKM 22.4) and 24 other tissues See more Orthologs all
BTNL2, Official Symbol BTNL2provided by HGNC Official Full Name butyrophilin like 2provided by HGNC Primary source HGNC:HGNC:1142 See related Ensembl:ENSG00000204290 MIM:606000; AllianceGenome:HGNC:1142 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 SS2; BTN7; BTL-II; HSBLMHC1 Summary This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
BTNL3, Official Symbol BTNL3provided by HGNC Official Full Name butyrophilin like 3provided by HGNC Primary source HGNC:HGNC:1143 See related Ensembl:ENSG00000168903 MIM:606192; AllianceGenome:HGNC:1143 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 BTNLR; BTN9.1 Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to be integral component of membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 59.3), small intestine (RPKM 43.9) and 1 other tissue See more Orthologs all
BTNL8, Official Symbol BTNL8provided by HGNC Official Full Name butyrophilin like 8provided by HGNC Primary source HGNC:HGNC:26131 See related Ensembl:ENSG00000113303 MIM:615606; AllianceGenome:HGNC:26131 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 BTN9.2 Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 27.0), small intestine (RPKM 20.3) and 3 other tissues See more Orthologs all
BTNL9, Official Symbol BTNL9provided by HGNC Official Full Name butyrophilin like 9provided by HGNC Primary source HGNC:HGNC:24176 See related Ensembl:ENSG00000165810 AllianceGenome:HGNC:24176 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 BTN3; BTN8; VDLS1900 Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 71.4), lung (RPKM 16.7) and 4 other tissues See more Orthologs mouse all
BTRC, Official Symbol BTRCprovided by HGNC Official Full Name beta-transducin repeat containing E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:1144 See related Ensembl:ENSG00000166167 MIM:603482; AllianceGenome:HGNC:1144 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 FWD1; FBW1A; FBXW1; bTrCP; FBXW1A; bTrCP1; betaTrCP; BETA-TRCP Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in brain (RPKM 11.6), testis (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
BUB1, Official Symbol BUB1provided by HGNC Official Full Name BUB1 mitotic checkpoint serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:1148 See related Ensembl:ENSG00000169679 MIM:602452; AllianceGenome:HGNC:1148 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 BUB1A; BUB1L; hBUB1; MCPH30 Summary This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 25.2), lymph node (RPKM 11.3) and 10 other tissues See more Orthologs mouse all
BUB1B, Official Symbol BUB1Bprovided by HGNC Official Full Name BUB1 mitotic checkpoint serine/threonine kinase Bprovided by HGNC Primary source HGNC:HGNC:1149 See related Ensembl:ENSG00000156970 MIM:602860; AllianceGenome:HGNC:1149 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 MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta Summary This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 16.5), bone marrow (RPKM 7.5) and 12 other tissues See more Orthologs mouse all
BUB3, Official Symbol BUB3provided by HGNC Official Full Name BUB3 mitotic checkpoint proteinprovided by HGNC Primary source HGNC:HGNC:1151 See related Ensembl:ENSG00000154473 MIM:603719; AllianceGenome:HGNC:1151 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 BUB3L; hBUB3 Summary This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 41.0), appendix (RPKM 28.0) and 25 other tissues See more Orthologs mouse all
BUD13, Official Symbol BUD13provided by HGNC Official Full Name BUD13 homologprovided by HGNC Primary source HGNC:HGNC:28199 See related Ensembl:ENSG00000137656 AllianceGenome:HGNC:28199 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 Cwc26; fSAP71 Summary Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.5), lymph node (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
BUD23, Official Symbol BUD23provided by HGNC Official Full Name BUD23 rRNA methyltransferase and ribosome maturation factorprovided by HGNC Primary source HGNC:HGNC:16405 See related Ensembl:ENSG00000071462 MIM:615733; AllianceGenome:HGNC:16405 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 WBMT; MERM1; PP3381; HUSSY-3; WBSCR22; HASJ4442 Summary This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 63.4), thyroid (RPKM 24.2) and 25 other tissues See more Orthologs mouse all
BUD31, Official Symbol BUD31provided by HGNC Official Full Name BUD31 homologprovided by HGNC Primary source HGNC:HGNC:29629 See related Ensembl:ENSG00000106245 MIM:603477; AllianceGenome:HGNC:29629 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 G10; EDG2; Cwc14; EDG-2; fSAP17; YCR063W Summary Enables nuclear receptor binding activity and nuclear receptor coactivator activity. Involved in mRNA splicing, via spliceosome and positive regulation of androgen receptor activity. Located in nucleus. Part of U2-type catalytic step 2 spliceosome. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 25.3), bone marrow (RPKM 23.9) and 25 other tissues See more Orthologs mouse all
BUD31P1, Official Symbol BUD31P1provided by HGNC Official Full Name BUD31 homolog pseudogene 1provided by HGNC Primary source HGNC:HGNC:51561 See related Ensembl:ENSG00000253684 AllianceGenome:HGNC:51561 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
BVES, Official Symbol BVESprovided by HGNC Official Full Name blood vessel epicardial substanceprovided by HGNC Primary source HGNC:HGNC:1152 See related Ensembl:ENSG00000112276 MIM:604577; AllianceGenome:HGNC:1152 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 POP1; HBVES; CARICK; LGMD2X; POPDC1; LGMDR25 Summary This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] Expression Broad expression in heart (RPKM 3.6), testis (RPKM 1.9) and 16 other tissues See more Orthologs mouse all
BVES-AS1, Official Symbol BVES-AS1provided by HGNC Official Full Name BVES antisense RNA 1provided by HGNC Primary source HGNC:HGNC:21223 See related Ensembl:ENSG00000203808 AllianceGenome:HGNC:21223 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 C6orf112; bA99L11.2 Expression Biased expression in testis (RPKM 4.5), heart (RPKM 0.8) and 3 other tissues See more
BYSL, Official Symbol BYSLprovided by HGNC Official Full Name bystin likeprovided by HGNC Primary source HGNC:HGNC:1157 See related Ensembl:ENSG00000112578 MIM:603871; AllianceGenome:HGNC:1157 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 Enp1; BYSTIN Summary Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.5), placenta (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
BZW1, Official Symbol BZW1provided by HGNC Official Full Name basic leucine zipper and W2 domains 1provided by HGNC Primary source HGNC:HGNC:18380 See related Ensembl:ENSG00000082153 MIM:619252; AllianceGenome:HGNC:18380 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 5MP2; BZAP45; Nbla10236 Summary Enables RNA binding activity and cadherin binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 73.8), adrenal (RPKM 67.5) and 25 other tissues See more Orthologs mouse all
BZW1-AS1, Official Symbol BZW1-AS1provided by HGNC Official Full Name BZW1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40839 See related Ensembl:ENSG00000230408 AllianceGenome:HGNC:40839 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 testis (RPKM 5.7), fat (RPKM 4.6) and 25 other tissues See more
BZW1P1, Official Symbol BZW1P1provided by HGNC Official Full Name basic leucine zipper and W2 domains 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31378 See related AllianceGenome:HGNC:31378 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo