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RGS9BP

Synonyms
PERRS, R9AP, RGS9
External resources
Summary
The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia.

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
45
VUS
360
Likely benign
364
Benign
233

Patient phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on RGS9BP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
28.9%
Abnormality of the nervous system
24.4%
Abnormality of the eye
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the ear
13.3%
Abnormality of head or neck
8.9%
Abnormality of the genitourinary system
4.4%
Abnormality of the integument
4.4%
Growth abnormality
4.4%
Abnormality of blood and blood-forming tissues
2.2%
Abnormality of limbs
2.2%
Abnormality of prenatal development or birth
2.2%
Abnormality of the immune system
2.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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