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

External Links

NCBI Gene	UniProtKB
HGNC	OMIM

IthaScore

Sequence Viewer

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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

Created on 2019-12-10 11:27:40, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-12-10 11:27:40	The IthaGenes Curation Team	Created

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