- Gene affected:
- SH2B Adapter protein 3 (also known as lymphocyte adapter protein (LNK))
- Clinical significance
- An infrequently detected mutation that has an association particularly with myelproliferative disorders; its prognostic significance is unclear.
Function of gene
SH2B is an adaptor protein (one that assembles a group of signalling molecules); that helps mediate signals from cytokine receptors. The signal complex that contains SH2B3 in fact has a negative regulatory effect on the JAK STAT signal pathway so that when SH2B3 suffers “loss of function” mutations there is inappropriate activation of JAK/STAT signalling (similar to that in myeloproliferative disorders).
NGS panel gene coverage
The panels recognise changes to exon 2
Interactions: May cooperate with CBL and JAK2 mutation to promote MPN
- GeneWiki link: