Alt. symbols: SLP65 | Ly57 | SLP-65 | BLNK-s | BASH | bca

Approved name: B cell linker
Alt. names: B-cell adapter containing a SH2 domain protein, B-cell activation, Src homology [SH2] domain-containing leukocyte protein of 65 kD, B cell adaptor containing SH2 domain

Location: 10q24.1: 96189171 - 96271587 (-)
Gene type: protein_coding, 25 transcripts.

Scores: LoFtool: 0.056500 | pLI: 0.99001110 | LOEUF: 0.391

HGNC: 14211

NCBI: 29760, RefSeq: NG_007575.1

Ensembl: ENSG00000095585.18

LRG_21 | Status: public

OMIM: 604515

Expression | ProteinAtlas

The BLNK gene encodes a B-cell linker or adaptor protein that plays a critical role in B cell development. Linker or adaptor proteins provide mechanisms by which receptors can amplify and regulate downstream effector proteins. BLNK is essential for normal B-cell development (Fu et al., 1998) because it bridges B cell receptor-associated kinase activation with downstream signalling pathways. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signalling effectors following B cell receptor activation.

Biallic mutations in BLNK have been associated with Agammaglobulinemia 4 [MIM:613502]. Homozygous splice defects in the cytoplasmic adapter protein BLNK (B cell linker protein) have been identified in patients with this type of agammaglobulinemia (no pre-B cells and no mature B cells), indicating that BLNK plays a critical role in orchestrating the pro-B cell to pre-B cell transition. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. [Load More]