SOCS6

Chr 18

suppressor of cytokine signaling 6

Also known as: CIS-4, CIS4, HSPC060, SOCS-4, SOCS-6, SOCS4, SSI4, STAI4

NCBI Gene: 9306 ENSG00000170677 UniProt: O14544

SOCS6 encodes a suppressor of cytokine signaling protein that negatively regulates cytokine signal transduction and promotes degradation of specific receptor tyrosine kinases through ubiquitination. The gene is highly constrained against loss-of-function variants (pLI=0.99, LOEUF=0.22), but no specific Mendelian disease has been definitively associated with SOCS6 mutations in humans to date. Given its role in cytokine signaling regulation, mutations would likely affect immune system function and hematopoietic processes.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a SH2 domain and a CIS homolog 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 GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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