SOCS7

protein-coding

suppressor of cytokine signaling 7, the group of Suppressors of cytokine signaling|SH2 domain containing

Gene summary

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. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014598.4

Inheritance

—

ClinVar variants

U:73B:3

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr17:38,351,844-38,405,593

External References & Databases

Ensembl (ENSG00000274211)

Transcript & Mutation Effects

hg38 • Region Span ~53.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SOCS7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 71

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014598.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			70 clinvar	1 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	73	3	0	76

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014598.4	RefSeq	NP_055413.2	9	MANE Select
ENST00000612932.6	Ensembl	ENSP00000482229.2	9	MANE Select
ENST00000613678.5	Ensembl	ENSP00000484381.2	8	Standard
ENST00000617765.1	Ensembl	ENSP00000482278.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Jak-STAT signaling pathway - Homo sapiens (human)
Prolactin signaling pathway - Homo sapiens (human)
Leptin signaling pathway
Leptin

Biological Process

biological_process
insulin receptor signaling pathway
negative regulation of signal transduction
protein ubiquitination
layer formation in cerebral cortex

Molecular Function

protein binding
SH3 domain binding
1-phosphatidylinositol-3-kinase regulator activity

Cellular Component

nucleus
cytosol
plasma membrane
phosphatidylinositol 3-kinase complex

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF- like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). {ECO:0000250, ECO:0000269|PubMed:15677474, ECO:0000269|PubMed:16127460}.;

Recessive Scores

pRec: 0.157

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.769

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium