SOCS1

Chr 16

suppressor of cytokine signaling 1

Also known as: AISIMD, CIS1, CISH1, JAB, SOCS-1, SSI-1, SSI1, TIP-3

NCBI Gene: 8651ENSG00000185338UniProt: O15524

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAutoinflammatory syndrome, familial, with or without immunodeficiency

Clinical highlights

Gene-disease validity (ClinGen)
autoinflammatory syndrome with immunodeficiency · ADDefinitivesufficient evidence for diagnostic panels
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.
3
Active trials
219
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
1.07LOEUF
pLI 0.585
Z-score 1.53
OE 0.00 (0.00–1.07)
Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint?
0.83Z-score
OE missense 0.75 (0.62–0.92)
67 obs / 89.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.07)
0≤0.351.4
Missense OE?0.75 (0.62–0.92)
0≤0.61.4
Synonymous OE?1.61
0≤1.21.6
LoF obs/exp: 0 / 2.7Missense obs/exp: 67 / 89.0Syn Z: -3.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SOCS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients