Gene Gene information from NCBI Gene database.
Entrez ID 388531
Gene name Regulator of G protein signaling 9 binding protein
Gene symbol RGS9BP
Synonyms (NCBI Gene)
PERRSPERRS2R9APRGS9
Chromosome 19
Chromosome location 19q13.11
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. T
miRNA miRNA information provided by mirtarbase database.
222
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607814 30304 ENSG00000186326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bradyopsia Pathogenic rs758583548, rs1968005848 RCV000002965
RCV001283837
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prolonged electroretinal response suppression 2 Pathogenic rs1968006085 RCV003990409
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Retinal dystrophy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RGS9BP-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 15728856
★☆☆☆☆
Found in Text Mining only
Bradyopsia Bradyopsia Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy Cone dystrophy Pubtator 26957898 Associate
★☆☆☆☆
Found in Text Mining only
Disorder of eye Disorder Of Eye GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Dyskinesia, Drug-Induced Dyskinesia CTD_human_DG 18160641, 24663062
★☆☆☆☆
Found in Text Mining only
Dyskinetic syndrome Dyskinetic Syndrome BEFREE 15728856, 18548510
★☆☆☆☆
Found in Text Mining only
Dystonia Disorders Dystonia BEFREE 30552094
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves Disease GWASCAT_DG 30067105
★☆☆☆☆
Found in Text Mining only
Leber Congenital Amaurosis Leber Congenital Amaurosis CLINVAR_DG 30718709
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 24317514
★☆☆☆☆
Found in Text Mining only