SSTR4

somatostatin receptor 4, the group of Somatostatin receptors

Basic information

Region (hg38): 20:23035312-23039237

Links

ENSG00000132671 ∙ NCBI:6754 ∙ OMIM:182454 ∙ HGNC:11333 ∙ Uniprot:P31391 ∙ 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 SSTR4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSTR4 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					4	4
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	4

Variants in SSTR4

This is a list of pathogenic ClinVar variants found in the SSTR4 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-23035533-C-A		not specified	Uncertain significance (Aug 02, 2023)
20-23035534-G-C			Benign (Aug 16, 2018)
20-23035565-G-T		not specified	Uncertain significance (Feb 28, 2024)
20-23035568-C-G		not specified	Uncertain significance (Nov 07, 2022)
20-23035583-G-C		not specified	Uncertain significance (Mar 07, 2023)
20-23035584-A-T		not specified	Uncertain significance (Mar 07, 2023)
20-23035616-G-C		not specified	Uncertain significance (Dec 22, 2023)
20-23035619-G-C		not specified	Uncertain significance (Aug 17, 2022)
20-23035622-A-G		not specified	Uncertain significance (Oct 06, 2021)
20-23035625-G-A		not specified	Uncertain significance (Feb 27, 2023)
20-23035811-C-A		not specified	Uncertain significance (Apr 23, 2024)
20-23035825-C-A		not specified	Uncertain significance (Dec 07, 2021)
20-23035857-T-A		not specified	Uncertain significance (Feb 12, 2024)
20-23035947-C-T		not specified	Uncertain significance (Apr 20, 2023)
20-23036060-G-T		not specified	Uncertain significance (Oct 05, 2023)
20-23036106-C-T		not specified	Uncertain significance (Oct 05, 2022)
20-23036113-C-A			Benign (Jun 18, 2018)
20-23036120-G-T		not specified	Uncertain significance (Mar 02, 2023)
20-23036126-A-G		not specified	Uncertain significance (Sep 22, 2022)
20-23036175-A-G		not specified	Uncertain significance (Apr 01, 2024)
20-23036182-C-T			Benign (Jul 15, 2018)
20-23036202-C-T		not specified	Uncertain significance (Jul 09, 2021)
20-23036232-G-A		not specified	Uncertain significance (May 09, 2023)
20-23036241-C-G		not specified	Uncertain significance (Jul 12, 2022)
20-23036242-G-A			Benign (Jun 14, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SSTR4	protein_coding	protein_coding	ENST00000255008	1	1258

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.70e-13	0.00174	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.231	279	268	1.04	0.0000189	2422
Missense in Polyphen		101	101.93	0.99086		1045
Synonymous	1.55	110	133	0.829	0.0000103	889
Loss of Function	-2.23	15	8.14	1.84	4.36e-7	74

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Pantoprazole Action Pathway;Rabeprazole Action Pathway;Esomeprazole Action Pathway;Omeprazole Action Pathway;Lansoprazole Action Pathway;Gastric Acid Production;Nizatidine Action Pathway;Cimetidine Action Pathway;Famotidine Action Pathway;Ranitidine Action Pathway;Betazole Action Pathway;Roxatidine acetate Action Pathway;Metiamide Action Pathway;Pirenzepine Action Pathway;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 (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.643
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.7

Haploinsufficiency Scores

• pHI: 0.0873
• hipred: N
• hipred_score: 0.312
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.557

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sstr4
• Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system 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;negative regulation of cell population proliferation;cell migration;forebrain development;somatostatin signaling pathway;positive regulation of ERK1 and ERK2 cascade;cellular response to glucocorticoid stimulus;positive regulation of arachidonic acid secretion;negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;somatostatin receptor activity;peptide binding;neuropeptide binding