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


B-precursor ALL
Germline mutations, significance unclear
Acquired mutations, has a recognised incidence of transformation to MPN
Acquired mutations, significance unclear

Interactions: May cooperate with CBL and JAK2 mutation to promote MPN


GeneWiki link:
Gene Wiki entry for SH2B3
1. Association with ALL
2. Association with MPD
3. Association with idiopathic erythrocytosis