SSTR3

somatostatin receptor 3, the group of Somatostatin receptors

Basic information

Region (hg38): 22:37204236-37212477

Links

ENSG00000278195 ∙ ∙ OMIM:182453 ∙ HGNC:11332 ∙ Uniprot:P32745 ∙ 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 SSTR3 gene.

• Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSTR3 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						0
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	1	0

Variants in SSTR3

This is a list of pathogenic ClinVar variants found in the SSTR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-37206569-G-A		not specified	Uncertain significance (Jun 30, 2022)
22-37206641-G-A		not specified	Uncertain significance (Jan 30, 2024)
22-37206645-G-A		not specified	Uncertain significance (Nov 17, 2023)
22-37206662-C-T		not specified	Uncertain significance (Nov 14, 2023)
22-37206671-G-A		not specified	Uncertain significance (Jan 29, 2024)
22-37206741-C-T		not specified	Uncertain significance (Oct 05, 2021)
22-37206780-C-G		not specified	Uncertain significance (Dec 15, 2022)
22-37206803-C-T		not specified	Uncertain significance (Jul 19, 2023)
22-37206807-G-A		not specified	Uncertain significance (Feb 03, 2022)
22-37206915-G-C		not specified	Uncertain significance (Aug 15, 2023)
22-37206942-C-T		not specified	Uncertain significance (Jul 28, 2021)
22-37207013-G-A		not specified	Uncertain significance (Nov 10, 2022)
22-37207065-G-A		not specified	Uncertain significance (Feb 05, 2024)
22-37207092-G-A		not specified	Uncertain significance (Sep 27, 2022)
22-37207175-G-A		not specified	Uncertain significance (Mar 25, 2022)
22-37207205-G-A		not specified	Uncertain significance (May 27, 2022)
22-37207281-C-A		not specified	Uncertain significance (Nov 10, 2022)
22-37207289-G-A		not specified	Uncertain significance (Oct 16, 2023)
22-37207340-C-T		not specified	Uncertain significance (Jun 21, 2023)
22-37207347-G-A		not specified	Uncertain significance (Jan 08, 2024)
22-37207371-C-T		not specified	Uncertain significance (Nov 10, 2022)
22-37207389-C-T		not specified	Uncertain significance (Mar 07, 2023)
22-37207430-A-G		not specified	Uncertain significance (May 18, 2022)
22-37207559-T-C		not specified	Uncertain significance (May 31, 2023)
22-37207569-T-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. {ECO:0000269|PubMed:1337145}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling;BBSome-mediated cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.198

Intolerance Scores

• loftool: 0.396
• rvis_EVS: 0.03
• rvis_percentile_EVS: 55.79

Haploinsufficiency Scores

• pHI: 0.267
• hipred: Y
• hipred_score: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.510

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sstr3

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;neuropeptide signaling pathway;cell-cell signaling;spermatogenesis;negative regulation of cell population proliferation;hormone-mediated apoptotic signaling pathway;cerebellum development;forebrain development;somatostatin signaling pathway;response to starvation;cellular response to glucocorticoid stimulus;cellular response to estradiol stimulus
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;ciliary membrane;non-motile cilium
• Molecular function: G protein-coupled receptor activity;somatostatin receptor activity;signaling receptor binding;protein binding;peptide binding;neuropeptide binding