SSTR4

Chr 20

somatostatin receptor 4

Also known as: SS-4-R, SS4-R, SS4R, SST4

NCBI Gene: 6754 ENSG00000132671 UniProt: P31391 OMIM: 182454

SSTR4 encodes a G protein-coupled receptor for somatostatin-14 that inhibits adenylyl cyclase and mediates antiproliferative signaling, with highest expression in brain and lung tissue. Mutations cause autosomal recessive intellectual disability with seizures and growth hormone deficiency. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.96

LOEUF

Multiple*

Mechanism· predicted