SSTR2

somatostatin receptor 2, the group of Somatostatin receptors

Basic information

Region (hg38): 17:73165010-73176633

Links

ENSG00000180616 ∙ NCBI:6752 ∙ OMIM:182452 ∙ HGNC:11331 ∙ Uniprot:P30874 ∙ 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 SSTR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSTR2 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in SSTR2

This is a list of pathogenic ClinVar variants found in the SSTR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-73169330-C-T		not specified	Likely benign (Sep 30, 2024)
17-73169345-A-G		not specified	Uncertain significance (Jul 05, 2023)
17-73169353-C-T		not specified	Uncertain significance (Jul 30, 2024)
17-73169355-C-G		not specified	Likely benign (Aug 07, 2024)
17-73169368-A-G		not specified	Uncertain significance (Jul 27, 2024)
17-73169380-C-T		not specified	Uncertain significance (Mar 16, 2024)
17-73169384-A-G		not specified	Uncertain significance (Jun 03, 2022)
17-73169408-C-A		not specified	Uncertain significance (Sep 01, 2021)
17-73169463-C-A		not specified	Uncertain significance (Apr 15, 2024)
17-73169578-A-G		not specified	Uncertain significance (Nov 22, 2022)
17-73169620-A-G		not specified	Uncertain significance (Nov 09, 2024)
17-73169752-G-A		not specified	Uncertain significance (Mar 01, 2023)
17-73169755-C-A		not specified	Uncertain significance (Jun 10, 2024)
17-73169789-G-A		not specified	Uncertain significance (Nov 27, 2024)
17-73169882-G-C		not specified	Uncertain significance (Aug 20, 2024)
17-73169896-T-A		not specified	Uncertain significance (Jun 30, 2023)
17-73169947-A-G		not specified	Uncertain significance (May 01, 2024)
17-73169995-C-T		not specified	Uncertain significance (Jun 25, 2024)
17-73170038-T-A		not specified	Uncertain significance (Mar 28, 2023)
17-73170052-T-C		not specified	Uncertain significance (Dec 06, 2024)
17-73170062-A-G		not specified	Uncertain significance (Apr 08, 2024)
17-73170272-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-73170328-G-C		not specified	Uncertain significance (Oct 09, 2024)
17-73170338-G-A		not specified	Uncertain significance (Jul 07, 2024)
17-73170347-G-C		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SSTR2	protein_coding	protein_coding	ENST00000357585	1	6035

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.444	0.550	125743	0	3	125746	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	169	212	0.799	0.0000115	2436
Missense in Polyphen		37	80.005	0.46247		987
Synonymous	-0.501	90	84.2	1.07	0.00000466	762
Loss of Function	2.31	2	9.80	0.204	7.02e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. Inhibits calcium entry by suppressing voltage-dependent calcium channels. Acts as the functionally dominant somatostatin receptor in pancreatic alpha- and beta-cells where it mediates the inhibitory effect of somatostatin-14 on hormone secretion. Inhibits cell growth through enhancement of MAPK1 and MAPK2 phosphorylation and subsequent up-regulation of CDKN1B. Stimulates neuronal migration and axon outgrowth and may participate in neuron development and maturation during brain development. Mediates negative regulation of insulin receptor signaling through PTPN6. Inactivates SSTR3 receptor function following heterodimerization. {ECO:0000269|PubMed:15231824, ECO:0000269|PubMed:18653781, ECO:0000269|PubMed:19434240, ECO:0000269|PubMed:22495673, ECO:0000269|PubMed:22932785}.
• Pathway: Gastric acid secretion - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Proton Pump Inhibitor Pathway, Pharmacodynamics;GPCRs, Other;Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;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 (Consensus)

Recessive Scores

• pRec: 0.271

Intolerance Scores

• loftool: 0.387
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

• pHI: 0.150
• hipred: Y
• hipred_score: 0.736
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sstr2
• Phenotype: homeostasis/metabolism phenotype; 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of muscle contraction;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;spermatogenesis;negative regulation of cell population proliferation;cerebellum development;peristalsis;forebrain development;somatostatin signaling pathway;response to starvation;cellular response to glucocorticoid stimulus;cellular response to estradiol stimulus
• Cellular component: cytosol;plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;somatostatin receptor activity;protein binding;PDZ domain binding;peptide binding;neuropeptide binding