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RGS5

Synonyms
MST092, MST106, MST129, MSTP032, MSTP092, MSTP106, MSTP129
External resources
Summary
This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
383
Likely benign
1,840
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RGS5 gene.

Phenotype class
Patients in 3billion (%)

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