Entrez gene ID | | 29760 |
Official gene symbol | | BLNK |
Full name | | B-cell linker |
Aliases | | ,BASH,BLNK-S,LY57,MGC111051,SLP-65,SLP65, |
Gene summary | | This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q23.2-q23.33 |
Gene position | | 98031333 - 97951455 Map Viewer |
Gene orientation | | minus |
Gene size | | 79879 bp |
Gene sequence |
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OMIM ID | | 604515 |
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