Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388531
Gene name Gene Name - the full gene name approved by the HGNC.
Regulator of G protein signaling 9 binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RGS9BP
Synonyms (NCBI Gene) Gene synonyms aliases
PERRS, PERRS2, R9AP, RGS9
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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. T
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT694266 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT694265 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT694264 hsa-miR-940 HITS-CLIP 23313552
MIRT694263 hsa-miR-3929 HITS-CLIP 23313552
MIRT694262 hsa-miR-4419b HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0007186 Process G protein-coupled receptor signaling pathway IBA
GO:0007601 Process Visual perception IEA
GO:0009968 Process Negative regulation of signal transduction IEA
GO:0016020 Component Membrane IEA
GO:0043005 Component Neuron projection IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607814 30304 ENSG00000186326
Protein
UniProt ID Q6ZS82
Protein name Regulator of G-protein signaling 9-binding protein (RGS9-anchoring protein)
Protein function Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to
Family and domains
Sequence
MAREECKALLDGLNKTTACYHHLVLTVGGSADSQNLRQELQKTRQKAQELAVSTCARLTA
VLRDRGLAADERAEFERLWVAFSGCLDLLEADMRRALELGAAFPLHAPRRPLVRTGVAGA
SSGVAARALSTRSLRLEAEGDFDVADLRELEREVLQVGEMIDNMEMKVNVPRWTVQARQA
AGAELLSTVSAGPSSVVSLQERGGGCDPRKALAAILFGAVLLAAVALAVCVAKLS
Sequence length 235
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Inactivation, recovery and regulation of the phototransduction cascade
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bradyopsia bradyopsia rs758583548 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cone Dystrophy Associate 26957898
Cone Rod Dystrophies Associate 26957898
Prolonged Electroretinal Response Suppression Associate 26957898