HTR5A

Chr 7

5-hydroxytryptamine receptor 5A

Also known as: 5-HT5A

NCBI Gene: 3361 ENSG00000157219 UniProt: P47898 OMIM: 601305

HTR5A encodes a G-protein coupled receptor for serotonin that inhibits adenylate cyclase activity and regulates intracellular calcium release through phosphatidylinositol signaling. The gene is not highly constrained against loss-of-function variants, and no definitive human disease associations have been established for HTR5A mutations in the current literature. This receptor is part of the serotonin neurotransmitter system that broadly influences psychiatric and vascular functions.

OMIM ResearchSummary from RefSeq, UniProt

The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.02

LOEUF

Multiple*

Mechanism· predicted