Aliases for BLNK Gene
- B Cell Linker 2 3 5
- B-Cell Adapter Containing A SH2 Domain Protein 2 3 4
- Src Homology [SH2] Domain-Containing Leukocyte Protein Of 65 KD 2 3
- Src Homology 2 Domain-Containing Leukocyte Protein Of 65 KDa 3 4
- B-Cell Adapter Containing A Src Homology 2 Domain Protein 3 4
- B Cell Adaptor Containing SH2 Domain 2 3
- Cytoplasmic Adapter Protein 3 4
- B-Cell Linker Protein 3 4
External Ids for BLNK Gene
Previous GeneCards Identifiers for BLNK Gene
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]
GeneCards Summary for BLNK Gene
BLNK (B Cell Linker) is a Protein Coding gene. Diseases associated with BLNK include Agammaglobulinemia 4, Autosomal Recessive and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Osteoclast differentiation. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity and transmembrane receptor protein tyrosine kinase adaptor activity. An important paralog of this gene is LCP2.
UniProtKB/Swiss-Prot Summary for BLNK Gene
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.