CISH Chromosome 3

Cytokine inducible SH2 containing protein
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"SH2 domain containing|Suppressors of cytokine signaling"
Locus Type
gene with protein product
Location
3p21.2
Ensembl
ENSG00000114737
Associated Conditions (5)
Tuberculosis
susceptibility to
Malaria
Bacteremia
2
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS414171 Health Risk risk factor Tuberculosis, susceptibility to, Malaria
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