GNG5

Chr 1

G protein subunit gamma 5

NCBI Gene: 2787 ENSG00000174021 UniProt: P63218

The GNG5 protein is the gamma subunit of heterotrimeric G proteins that transduce signals from cell surface receptors to intracellular effectors, with the gamma subunit being essential for GTPase activity and effector interactions. Currently, no established Mendelian diseases are definitively associated with GNG5 mutations in clinical databases. The gene shows relatively low constraint against loss-of-function variants (pLI = 0.19, LOEUF = 1.58), suggesting it may tolerate some degree of functional variation.

ResearchSummary from RefSeq, UniProt

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)