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RGS11

Synonyms
RS11
External resources
Summary
The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
282
VUS
11,327
Likely benign
697
Benign
0

Patient phenotypes

Proportions of phenotypes among 307 patients carring pathogenic or likely pathogenic variants on RGS11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the cardiovascular system
26.7%
Abnormality of the musculoskeletal system
20.8%
Abnormality of head or neck
18.2%
Abnormality of the ear
17.9%
Abnormality of the eye
16.9%
Growth abnormality
11.4%
Abnormality of the immune system
7.8%
Abnormality of the genitourinary system
7.5%
Abnormality of the digestive system
5.9%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the integument
4.6%
Abnormality of limbs
3.9%
Abnormality of the respiratory system
3.3%
Abnormality of prenatal development or birth
2.9%
Constitutional symptom
2%
Abnormality of the endocrine system
1.6%
Neoplasm
1.6%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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