SSTR3

somatostatin receptor 3, the group of Somatostatin receptors

Basic information

Region (hg38): 22:37204237-37212477

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.

not_specified (70 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. These statistics are base on transcript: NM_000001051.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			66 clinvar	3 clinvar		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	4	0

Loading clinvar variants...

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
ghis

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
Phenotype

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