RGS17

Chr 6

regulator of G protein signaling 17

Also known as: RGS-17, RGSZ2, hRGS17

NCBI Gene: 26575 ENSG00000091844 UniProt: Q9UGC6

This protein regulates G-protein coupled receptor signaling by accelerating GTPase activity of specific G alpha subunits (GNAZ and GNAI2), thereby terminating signals from receptors including muscarinic acetylcholine and dopamine receptors. Mutations in RGS17 have not been definitively associated with human disease. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.641), suggesting haploinsufficiency may not be highly pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.64

LOEUF

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Mechanism

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