GeneID: 338
Names
| Common Name: | SH2B3 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 12 (NC_000012.12) | Locus: | NG_021216.1 (SH2B3) |
| HUGO Symbol: | SH2B3 | Full Name: | SH2B adaptor protein 3 |
| Exons: | 8 | Introns: | 7 |
Description:
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signalling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signalling and plays a critical role in haematopoiesis. SH2B3 directly interacts with phosphorylated JAK2 in a TPO-dependent manner, and its deficiency potentiates JAK2 activation and signalling in haematopoietic stem and progenitor cells. Genetic variance in SH2B3 gene associated with haematological parameters (e.g., platelet count).
Synonyms: LNK , IDDM20
Comments:
N/A
Number of entries/variants: 1
Sequence Viewer
Publications / Origin
- Bersenev A, Wu C, Balcerek J, Tong W, Lnk controls mouse hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2., J. Clin. Invest., 118(8), 2832-44, 2008 PubMed
- Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed