SOCS7

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

Basic information

Region (hg38): 17:38351844-38405593

Links

ENSG00000274211 ∙ NCBI:30837 ∙ OMIM:608788 ∙ HGNC:29846 ∙ Uniprot:O14512 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SOCS7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOCS7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	0

Variants in SOCS7

This is a list of pathogenic ClinVar variants found in the SOCS7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-38352258-A-G		not specified	Uncertain significance (Mar 11, 2024)
17-38352273-C-T		not specified	Uncertain significance (Sep 27, 2024)
17-38352288-T-C		not specified	Likely benign (Apr 07, 2023)
17-38352304-G-T		not specified	Uncertain significance (Apr 07, 2023)
17-38352421-G-C		not specified	Uncertain significance (Dec 02, 2022)
17-38352429-C-T		not specified	Uncertain significance (Oct 01, 2024)
17-38352443-C-A		not specified	Uncertain significance (Aug 01, 2023)
17-38352461-G-A		not specified	Uncertain significance (Feb 10, 2022)
17-38352473-G-A		not specified	Uncertain significance (Jun 03, 2024)
17-38352513-C-G		not specified	Uncertain significance (Sep 18, 2024)
17-38352524-C-T		not specified	Uncertain significance (Feb 06, 2024)
17-38352554-G-C		not specified	Uncertain significance (May 30, 2024)
17-38352600-G-A		not specified	Uncertain significance (Nov 26, 2024)
17-38352696-T-A		not specified	Uncertain significance (Aug 10, 2024)
17-38352705-C-G		not specified	Uncertain significance (Feb 28, 2023)
17-38352819-C-T		not specified	Uncertain significance (Oct 25, 2023)
17-38352825-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-38352836-C-G		not specified	Uncertain significance (Apr 22, 2022)
17-38352855-C-T		not specified	Uncertain significance (Mar 28, 2023)
17-38352860-C-T		not specified	Uncertain significance (Dec 27, 2023)
17-38352878-A-G		not specified	Uncertain significance (Jun 02, 2024)
17-38352957-C-G		not specified	Uncertain significance (Oct 29, 2024)
17-38353027-G-A			Likely benign (Jun 01, 2022)
17-38364781-A-G		not specified	Uncertain significance (Nov 13, 2023)
17-38364791-G-A		not specified	Uncertain significance (Jul 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

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}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Leptin signaling pathway;Leptin (Consensus)

Recessive Scores

• pRec: 0.157

Haploinsufficiency Scores

• pHI: 0.295
• hipred: Y
• hipred_score: 0.662

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.769

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Socs7
• Phenotype: homeostasis/metabolism phenotype; craniofacial phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; skeleton phenotype; vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: biological_process;insulin receptor signaling pathway;negative regulation of signal transduction;protein ubiquitination;layer formation in cerebral cortex;radial glia guided migration of Purkinje cell;intracellular signal transduction;regulation of growth;regulation of phosphatidylinositol 3-kinase activity;fat cell differentiation;phosphatidylinositol phosphorylation
• Cellular component: nucleus;cytosol;plasma membrane;phosphatidylinositol 3-kinase complex
• Molecular function: protein binding;SH3 domain binding;1-phosphatidylinositol-3-kinase regulator activity