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Aliases for RGS9 Gene

Aliases for RGS9 Gene

  • Regulator Of G-Protein Signaling 9 2 3 5
  • Regulator Of G-Protein Signalling 9 2 3
  • Regulator Of G Protein Signalling 9L 2
  • Regulator Of G Protein Signalling 9 2
  • Regulator Of G-Protein Signaling 9L 2
  • PERRS 3
  • RGS9L 3

External Ids for RGS9 Gene

Previous GeneCards Identifiers for RGS9 Gene

  • GC17M065188
  • GC17M068254
  • GC17P063551
  • GC17P063683
  • GC17P060564
  • GC17P063133
  • GC17P058525

Summaries for RGS9 Gene

Entrez Gene Summary for RGS9 Gene

  • This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for RGS9 Gene

RGS9 (Regulator Of G-Protein Signaling 9) is a Protein Coding gene. Diseases associated with RGS9 include bradyopsia and retinitis pigmentosa. Among its related pathways are Amphetamine addiction and Phototransduction. GO annotations related to this gene include signal transducer activity and protein complex binding. An important paralog of this gene is RGS12.

UniProtKB/Swiss-Prot for RGS9 Gene

  • Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(t)-alpha. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).

Gene Wiki entry for RGS9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGS9 Gene

Genomics for RGS9 Gene

Regulatory Elements for RGS9 Gene

Enhancers for RGS9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RGS9 on UCSC Golden Path with GeneCards custom track

Promoters for RGS9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RGS9 on UCSC Golden Path with GeneCards custom track

Genomic Location for RGS9 Gene

Chromosome:
17
Start:
65,137,338 bp from pter
End:
65,227,703 bp from pter
Size:
90,366 bases
Orientation:
Plus strand

Genomic View for RGS9 Gene

Genes around RGS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RGS9 Gene

Proteins for RGS9 Gene

  • Protein details for RGS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75916-RGS9_HUMAN
    Recommended name:
    Regulator of G-protein signaling 9
    Protein Accession:
    O75916
    Secondary Accessions:
    • A8K3C0
    • O75573
    • Q696R2
    • Q8TD64
    • Q8TD65
    • Q9HC32
    • Q9HC33

    Protein attributes for RGS9 Gene

    Size:
    674 amino acids
    Molecular mass:
    76966 Da
    Quaternary structure:
    • Heterodimer with Gbeta5. Interacts with RGS7BP, leading to regulate the subcellular location of the heterodimer formed with Gbeta5. Component of the RGS9-1-Gbeta5 complex composed of isoform 3 of RGS9 (RGS9-1), Gbeta5 (GNB5) and RGS9BP (Probable).
    SequenceCaution:
    • Sequence=AAC25430.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RGS9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RGS9 Gene

Proteomics data for RGS9 Gene at MOPED

Post-translational modifications for RGS9 Gene

  • Retinal isoform 3 is light-dependent phosphorylated at Ser-478. Phosphorylation is decreased by light exposition (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RGS9 Gene

Antibody Products

No data available for DME Specific Peptides for RGS9 Gene

Domains & Families for RGS9 Gene

Gene Families for RGS9 Gene

Suggested Antigen Peptide Sequences for RGS9 Gene

Graphical View of Domain Structure for InterPro Entry

O75916

UniProtKB/Swiss-Prot:

RGS9_HUMAN :
  • In photoreceptor cells the DEP domain is essential for targeting RGS9 to the outer rod segments.
Domain:
  • In photoreceptor cells the DEP domain is essential for targeting RGS9 to the outer rod segments.
  • Contains 1 DEP domain.
  • Contains 1 G protein gamma domain.
  • Contains 1 RGS domain.
genes like me logo Genes that share domains with RGS9: view

Function for RGS9 Gene

Molecular function for RGS9 Gene

GENATLAS Biochemistry:
negative regulator of G protein signaling 9,55kDa,functioning as GTPase activating protein for G proteins alpha i and q subunits,expressed in rod outer segments and cones,controlling PDE activity through regulation of transducin,C elegans EGL-10 and yeast SST2 homolog
UniProtKB/Swiss-Prot Function:
Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(t)-alpha. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).
genes like me logo Genes that share phenotypes with RGS9: view

Human Phenotype Ontology for RGS9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RGS9 Gene

MGI Knock Outs for RGS9:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for RGS9 Gene

Localization for RGS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RGS9 Gene

Isoform 3: Membrane; Peripheral membrane protein. Note=Isoform 3 is targeted to the membrane via its interaction with RGS9BP. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RGS9 Gene COMPARTMENTS Subcellular localization image for RGS9 gene
Compartment Confidence
nucleus 4
plasma membrane 4
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for RGS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with RGS9: view

Pathways & Interactions for RGS9 Gene

genes like me logo Genes that share pathways with RGS9: view

Gene Ontology (GO) - Biological Process for RGS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007399 nervous system development IEA --
GO:0009968 negative regulation of signal transduction IEA --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RGS9: view

No data available for SIGNOR curated interactions for RGS9 Gene

Drugs & Compounds for RGS9 Gene

(1) Drugs for RGS9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RGS9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RGS9: view

Transcripts for RGS9 Gene

Unigene Clusters for RGS9 Gene

Regulator of G-protein signaling 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RGS9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for RGS9 Gene

GeneLoc Exon Structure for
RGS9
ECgene alternative splicing isoforms for
RGS9

Expression for RGS9 Gene

mRNA expression in normal human tissues for RGS9 Gene

mRNA differential expression in normal tissues according to GTEx for RGS9 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x12.8), Brain - Caudate (basal ganglia) (x8.6), and Brain - Nucleus accumbens (basal ganglia) (x6.6).

Protein differential expression in normal tissues from HIPED for RGS9 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RGS9 Gene



SOURCE GeneReport for Unigene cluster for RGS9 Gene Hs.664380

mRNA Expression by UniProt/SwissProt for RGS9 Gene

O75916-RGS9_HUMAN
Tissue specificity: Highly expressed in the caudate and putamen, lower levels found in the hypothalamus and nucleus accumbens and very low levels in cerebellum. Not expressed in globus pallidus or cingulate cortex. Isoform 2 is expressed predominantly in pineal gland and retina. Isoform 3 is expressed in retina (abundant in photoreceptors).
genes like me logo Genes that share expression patterns with RGS9: view

Protein tissue co-expression partners for RGS9 Gene

Primer Products

In Situ Assay Products

Orthologs for RGS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGS9 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia RGS9 35
  • 88.03 (n)
  • 90.16 (a)
RGS9 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rgs9 35
  • 86.55 (n)
  • 91.63 (a)
Rgs9 16
Rgs9 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RGS9 35
  • 99.41 (n)
  • 99.7 (a)
RGS9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rgs9 35
  • 86.49 (n)
  • 91.06 (a)
cow
(Bos Taurus)
Mammalia RGS9 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RGS9 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RGS9 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGS9 35
  • 71.8 (n)
  • 71.59 (a)
RGS9 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RGS9 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rgs9-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii rgs9b 35
  • 60.47 (n)
  • 57.98 (a)
zgc73189 35
rgs9a 36
  • 57 (a)
ManyToMany
rgs9b 36
  • 56 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42450 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rgs-4 36
  • 30 (a)
ManyToMany
Species with no ortholog for RGS9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RGS9 Gene

ENSEMBL:
Gene Tree for RGS9 (if available)
TreeFam:
Gene Tree for RGS9 (if available)

Paralogs for RGS9 Gene

Paralogs for RGS9 Gene

(17) SIMAP similar genes for RGS9 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RGS9: view

Variants for RGS9 Gene

Sequence variations from dbSNP and Humsavar for RGS9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_017912 Prolonged electroretinal response suppression (PERRS)
rs12452285 - 65,193,569(+) GTTCT(C/T)ATCCA reference, missense
rs167262 -- 65,142,565(+) TTCTC(C/T)CTTCC intron-variant
rs426851 -- 65,139,279(-) GAGAC(C/T)GGGGT intron-variant
rs427989 -- 65,137,166(-) GACCT(A/G)GCGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RGS9 Gene

Variant ID Type Subtype PubMed ID
esv1009898 CNV Deletion 20482838

Variation tolerance for RGS9 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RGS9 Gene

HapMap Linkage Disequilibrium report
RGS9
Human Gene Mutation Database (HGMD)
RGS9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RGS9 Gene

Disorders for RGS9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RGS9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bradyopsia
  • prolonged electroretinal response suppression
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RGS9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RGS9_HUMAN
  • Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones. {ECO:0000269 PubMed:14702087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RGS9

Genetic Association Database (GAD)
RGS9
Human Genome Epidemiology (HuGE) Navigator
RGS9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RGS9
genes like me logo Genes that share disorders with RGS9: view

No data available for Genatlas for RGS9 Gene

Publications for RGS9 Gene

  1. Molecular characterization of human and rat RGS9L, a novel splice variant enriched in dopamine target regions, and chromosomal localization of the RGS9 gene. (PMID: 9765512) Granneman J.G. … Cooper J. (Mol. Pharmacol. 1998) 2 3 4 67
  2. No association between regulator of G-protein signaling 9 (RGS9) and schizophrenia in a Jewish population. (PMID: 20016399) Greenbaum L. … Kohn Y. (Psychiatr. Genet. 2010) 3 23
  3. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). (PMID: 19818506) Michaelides M. … Webster A.R. (Ophthalmology 2010) 3 23
  4. Analysis of genetic variations in the RGS9 gene and antipsychotic-induced tardive dyskinesia in schizophrenia. (PMID: 18548510) Liou Y.J. … Lai I.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23
  5. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PMID: 14702087) Nishiguchi K.M. … Dryja T.P. (Nature 2004) 3 23

Products for RGS9 Gene

Sources for RGS9 Gene

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