SSTR3

Chr 22

somatostatin receptor 3

Also known as: SS-3-R, SS3-R, SS3R, SSR-28, SST3

NCBI Gene: 6753 ENSG00000278195 UniProt: P32745

This gene encodes somatostatin receptor 3, a G-protein coupled receptor that binds somatostatin-14 and somatostatin-28 peptide hormones and inhibits adenylyl cyclase to regulate neurotransmission, cell proliferation, and hormone secretion. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows low evolutionary constraint, consistent with recessive inheritance patterns where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.42

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)