BLNK, Official Symbol BLNKprovided by HGNC Official Full Name B cell linkerprovided by HGNC Primary source HGNC:HGNC:14211 See related Ensembl:ENSG00000095585 MIM:604515; AllianceGenome:HGNC:14211 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 bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65 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 have been found for this gene. [provided by RefSeq, May 2012] Expression Broad expression in spleen (RPKM 11.8), lymph node (RPKM 11.8) and 20 other tissues See more Orthologs mouse all