DISEASES

Disease-gene associations mined from literature

Literature associating BLNK and B cell linker protein deficiency

BLNK [ENSP00000224337]

Src homology 2 domain-containing leukocyte protein of 65 kDa; Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR- mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis; SH2 domain containing

Synonyms:  BLNK,  BASH,  BASH-001,  BASH-002,  BASH-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM