BLNK

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]

Description

B cell linker

Tissue specificity

Tissue enhanced (lymphoid tissue)

Subcell location

Vesicles, Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10:q24.1 (96189171 - 96271587)

Ensembl ID

ENSG00000095585  (ver. 103.38)

Orthologs

Mouse Blnk: ENSMUSG00000061132

UniProt

Q8WV28

neXtProt

NX_Q8WV28

Human splice variants
Mouse splice variants