Format

Send to:

Choose Destination

RGS9BP regulator of G protein signaling 9 binding protein [ Homo sapiens (human) ]

Gene ID: 388531, updated on 22-Aug-2020

Summary

Official Symbol
RGS9BPprovided by HGNC
Official Full Name
regulator of G protein signaling 9 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:30304
See related
Ensembl:ENSG00000186326 MIM:607814
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
R9AP; RGS9; PERRS
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. [provided by RefSeq, Mar 2010]
Orthologs

Genomic context

See RGS9BP in Genome Data Viewer
Location:
19q13.11
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32675848..32678300)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33166313..33169206)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 27 Neighboring gene ribosomal protein S12 pseudogene 31 Neighboring gene RNA, 7SL, cytoplasmic 789, pseudogene Neighboring gene nudix hydrolase 19 Neighboring gene uncharacterized LOC105372368 Neighboring gene tudor domain containing 12

Genomic regions, transcripts, and products

Bibliography

Phenotypes

Associated conditions

Description Tests
Bradyopsia
MedGen: C1842073 OMIM: 608415 GeneReviews: Not available
Compare labs
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45744

Gene Ontology Provided by GOA

Process Evidence Code Pubs
detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
 
negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
regulator of G-protein signaling 9-binding protein
Names
RGS9 anchor protein
RGS9-anchoring protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016751.1 RefSeqGene

    Range
    5442..7894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_207391.3NP_997274.2  regulator of G-protein signaling 9-binding protein

    See identical proteins and their annotated locations for NP_997274.2

    Status: REVIEWED

    Source sequence(s)
    AC008474
    Consensus CDS
    CCDS12424.1
    UniProtKB/Swiss-Prot
    Q6ZS82
    Related
    ENSP00000334134.3, ENST00000334176.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    32675848..32678300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center