BLNK

Chr 10

B cell linker

Also known as: AGM4, BASH, BLNK-S, LY57, SLP-65, SLP65, bca

NCBI Gene: 29760 ENSG00000095585 UniProt: Q8WV28

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]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAgammaglobulinemia 4, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

agammaglobulinemia 4, autosomal recessive · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.39

LOEUF

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Mechanism

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