SSTR5

somatostatin receptor 5, the group of Somatostatin receptors

Basic information

Region (hg38): 16:1072746-1081454

Links

ENSG00000162009 ∙ ∙ OMIM:182455 ∙ HGNC:11334 ∙ Uniprot:P35346 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Resistance to somatostatin treatment	AD	Pharmacogenomic	The presence of variants may impact the use of medications to treat conditions such as acromegaly	General	11502816; 15914528; 21744088; 21810856

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SSTR5 gene.

• Inborn genetic diseases (33 variants)
• not provided (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSTR5 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				3	7	10
missense			32	3	3	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	6	10

Variants in SSTR5

This is a list of pathogenic ClinVar variants found in the SSTR5 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-1078893-A-G		not specified	Uncertain significance (Sep 14, 2023)
16-1078894-C-T			Likely benign (Dec 31, 2019)
16-1078901-C-T		SSTR5-related disorder	Benign (Jul 12, 2019)
16-1078908-G-A		not specified	Likely benign (Jan 10, 2022)
16-1078918-C-G		not specified	Uncertain significance (Jan 05, 2022)
16-1078918-C-T		not specified	Uncertain significance (Oct 12, 2021)
16-1078937-C-T		SSTR5-related disorder	Likely benign (Aug 20, 2019)
16-1078944-A-C		not specified	Uncertain significance (Sep 20, 2023)
16-1078966-C-T		not specified	Uncertain significance (Apr 17, 2023)
16-1078972-C-T		not specified	Uncertain significance (Jun 26, 2023)
16-1078987-C-T		not specified	Uncertain significance (Aug 02, 2023)
16-1079001-G-A		not specified	Uncertain significance (Nov 09, 2021)
16-1079010-C-A			Benign (Oct 01, 2020)
16-1079024-G-A		SSTR5-related disorder	Benign (Nov 15, 2019)
16-1079082-A-G		not specified	Uncertain significance (Aug 15, 2023)
16-1079088-G-A		not specified	Uncertain significance (May 03, 2023)
16-1079161-C-T			Uncertain significance (Apr 30, 2019)
16-1079162-G-A			Likely benign (Dec 31, 2019)
16-1079176-C-T		not specified	Uncertain significance (Aug 08, 2023)
16-1079189-C-T			Benign (Dec 31, 2019)
16-1079205-C-T		not specified	Uncertain significance (Jan 22, 2024)
16-1079229-G-A		not specified	Likely benign (Aug 13, 2021)
16-1079270-C-T		SSTR5-related disorder	Benign (Jan 06, 2020)
16-1079278-G-A		not specified	Uncertain significance (Jan 26, 2022)
16-1079299-C-T		not specified	Uncertain significance (Nov 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SSTR5	protein_coding	protein_coding	ENST00000293897	1	8699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000955	0.598	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.287	256	269	0.951	0.0000208	2275
Missense in Polyphen		106	121.14	0.87503		1120
Synonymous	-0.278	139	135	1.03	0.0000113	840
Loss of Function	0.506	5	6.38	0.784	2.74e-7	64

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 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization. {ECO:0000269|PubMed:12072395, ECO:0000269|PubMed:7908405, ECO:0000269|PubMed:8078491, ECO:0000269|PubMed:8373420}.
• Pathway: cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Ghrelin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.508
• rvis_EVS: -0.39
• rvis_percentile_EVS: 27.03

Haploinsufficiency Scores

• pHI: 0.0848
• hipred: N
• hipred_score: 0.389
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.924

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sstr5
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; growth/size/body region 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;positive regulation of cytokinesis;somatostatin signaling pathway;glucose homeostasis;regulation of insulin secretion;cellular response to glucocorticoid stimulus
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;somatostatin receptor activity;peptide binding;neuropeptide binding