RGS3 Chromosome 9

Regulator of G protein signaling 3
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"Regulators of G-protein signaling|C2 domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000138835
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS139416272 Health Risk Conflicting classifications of pathogenicity —
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