Regulator of G Protein Signaling 9-Binding Protein

Alternative Names

  • RGS9BP
  • RGS9-Binding Protein
  • RGS9 Anchor Protein
  • R9AP
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OMIM Number

607814

NCBI Gene ID

388531

Uniprot ID

Q6ZS82

Length

2,453 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Regulator of G-protein signaling 9-binding protein

Molecular Mass

25148 Da

Amino Acid Count

235

Genomic Location

chr19:32,675,848-32,678,300

Gene Map Locus
19q13.11

Description

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. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_207391.3:c.330_342delSaudi ArabiaNC_000019.10:g.32676593_32676605delPathogenicPathogenicCone-Rod Dystrophy 2NG_016751.1:g.6187_6199del; NM_207391.3:c.330_342del; NP_997274.2:p.Pro111GlnfsTer1519680060853065332
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