Version 5.4
| Homo sapiens Gene: BTN2A1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-69496.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BTN2A1 | ||||||||||||||||||
| Gene Name | butyrophilin, subfamily 2, member A1 | ||||||||||||||||||
| Synonyms | BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000112763 | ||||||||||||||||||
| Encoded Proteins |
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
butyrophilin, subfamily 2, member A1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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 an integral plasma membrane B box protein involved in lipid, fatty-acid and sterol metabolism. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 6:26457904-26476621 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p22.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
| No orthologs found for this gene | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | C9JNC3 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 11120 | ||||||||||||||||||
| UniGene | Hs.159028 | ||||||||||||||||||
| RefSeq | NM_001197233 NM_001197234 NM_007049 NM_078476 | ||||||||||||||||||
| HUGO | HGNC:1136 | ||||||||||||||||||
| OMIM | 613590 | ||||||||||||||||||
| CCDS | CCDS4613 CCDS47390 CCDS56404 CCDS56405 | ||||||||||||||||||
| HPRD | 12544 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AL050330 AL121936 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 11120 | ||||||||||||||||||