SOCS1

suppressor of cytokine signaling 1

Summary

This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]

Known Variants52 total

rsidPosition (GRCh37)AllelesClassClinVar
rs478035516:11,347,858T/Cregulatory region variantno classification for the single variant
rs3393289916:11,348,211C/T
rs251125891216:11,348,737A/Glikely benign
rs13922170316:11,348,739G/Abenign
rs14026646216:11,348,759G/Auncertain significance
rs37127286716:11,348,766G/Cuncertain significance
rs20136871516:11,348,772G/Abenign
rs214112432716:11,348,776C/Tlikely pathogenic
rs76363914616:11,348,818G/Auncertain significance
rs54825448416:11,348,825C/Tuncertain significance
rs141210845716:11,348,848C/Guncertain significance
rs132222809416:11,348,870C/Auncertain significance
rs77893788016:11,348,873C/Tuncertain significance
rs90612529516:11,348,874G/Tpathogenic
rs206957899516:11,348,876A/Gpathogenic
rs206957924216:11,348,882C/Alikely pathogenic
rs141916465816:11,348,897G/Auncertain significance
rs137835951516:11,348,903C/Guncertain significance
rs76548057916:11,348,912C/Guncertain significance
rs11287629916:11,348,915G/Cuncertain significance
rs58777869316:11,348,938C/Tuncertain significance
rs124428467816:11,348,968G/Cpathogenic
rs104362861016:11,349,055C/Auncertain significance
rs146771527616:11,349,074C/Tuncertain significance
rs76609716016:11,349,109G/Cuncertain significance
rs105601493316:11,349,111G/Alikely benign
rs55882399616:11,349,126G/Alikely benign
rs214112512016:11,349,144G/Clikely pathogenic
rs148983160816:11,349,181T/Guncertain significance
rs74830621316:11,349,186G/Alikely benign
rs77604060016:11,349,187G/Auncertain significance
rs76069216916:11,349,191C/Auncertain significance
rs98528383216:11,349,196G/Auncertain significance
rs76868118916:11,349,197C/Tuncertain significance
rs86746457516:11,349,230G/Cuncertain significance
rs99857746916:11,349,233C/Guncertain significance
rs123362690916:11,349,236C/Tuncertain significance
rs214112536416:11,349,241G/Tlikely pathogenic
rs124942494416:11,349,256G/Auncertain significance
rs251125996716:11,349,266C/Tuncertain significance
rs206958683116:11,349,272G/Apathogenic
rs75934838916:11,349,275G/Auncertain significance
rs251125998816:11,349,280G/Auncertain significance
rs53787231716:11,349,290C/Guncertain significance
rs77859418616:11,349,296A/Cuncertain significance
rs251126009416:11,349,333C/Tuncertain significance
rs2782916:11,349,403A/Cbenign
rs24333216:11,349,678C/Tregulatory region variant
rs3397770616:11,350,155C/T
rs3398996416:11,350,812
rs19377916:11,350,965G/Aregulatory region variant
rs24333016:11,350,991C/G

Gene information from NCBI Gene. Variant classifications from ClinVar.