Gene Symbol | SH2B3 |
Entrez Gene ID | 10019 |
Full Name | SH2B adaptor protein 3 |
Synonyms | IDDM20,LNK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrocytosis, somatic, 133100 (3) |