SOCS7

Chr 17

suppressor of cytokine signaling 7

Also known as: NAP4, NCKAP4

NCBI Gene: 30837ENSG00000274211UniProt: O14512

Predicted to enable phosphorylation-dependent protein binding activity; signaling adaptor activity; and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in insulin receptor signaling pathway; proteasome-mediated ubiquitin-dependent protein catabolic process; and regulation of neuron migration. Predicted to act upstream of or within brain development; fat cell differentiation; and protein ubiquitination. Located in cytosol. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
7
Pathogenic / LP
82
ClinVar variants
7
Pubs (1 yr)
2.1
Missense Z
0.23
LOEUF· LoF intolerant
Clinical Summary— SOCS7
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 71 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.23LOEUF
pLI 0.998
Z-score 4.47
OE 0.07 (0.03–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.10Z-score
OE missense 0.67 (0.59–0.75)
208 obs / 312.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.07 (0.03–0.23)
0≤0.351.4
Missense OE0.67 (0.59–0.75)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 2 / 27.1Missense obs/exp: 208 / 312.5Syn Z: -0.13
LOF
DN
0.4190th %ile
GOF
0.6149th %ile
LOF
0.80top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.23

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS71
Likely Benign4
7
Pathogenic
71
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
69
2
0
71
Likely Benign
0
1
1
2
4
Benign
0
0
0
0
0
Total07010282

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

SOCS7 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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