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 vari... See more...

Aliases for RGS9 Gene

Aliases for RGS9 Gene

  • Regulator Of G Protein Signaling 9 2 3 5
  • Regulator Of G-Protein Signaling 9 2 3 4
  • Regulator Of G-Protein Signalling 9 2 3
  • PERRS 2 3
  • RGS9L 2 3
  • Regulator Of G Protein Signalling 9L 2
  • Regulator Of G Protein Signalling 9 2
  • Regulator Of G-Protein Signaling 9L 2
  • MGC111763 2
  • MGC26458 2
  • RGS9 5

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 Prolonged Electroretinal Response Suppression and Leber Plus Disease. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity. An important paralog of this gene is RGS11.

UniProtKB/Swiss-Prot Summary 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 GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).

Gene Wiki entry for RGS9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RGS9 Gene

Genomics for RGS9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RGS9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RGS9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RGS9

Top Transcription factor binding sites by QIAGEN in the RGS9 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HSF2
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for RGS9 Gene

Genomic Locations for RGS9 Gene
chr17:65,100,812-65,227,703
(GRCh38/hg38)
Size:
126,892 bases
Orientation:
Plus strand
chr17:63,133,456-63,223,821
(GRCh37/hg19)
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 GNB5. Interacts with RGS7BP, leading to regulate the subcellular location of the heterodimer formed with GNB5. Component of the RGS9-1-Gbeta5 complex composed of RGS9 (RGS9-1), Gbeta5 (GNB5) and RGS9BP. Interacts with PDE6G and GNAT1.
    SequenceCaution:
    • Sequence=AAC25430.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RGS9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RGS9 Gene

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

  • Abcam antibodies for RGS9
  • Boster Bio Antibodies for RGS9
  • Santa Cruz Biotechnology (SCBT) Antibodies for RGS9

No data available for DME Specific Peptides for RGS9 Gene

Domains & Families for RGS9 Gene

Gene Families for RGS9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RGS9 Gene

InterPro:
Blocks:
  • Regulator of G-protein signalling (RGS) protein signature
  • Gamma G-protein (transducin) signature
  • Pleckstrin putative G-protein interacting domain
ProtoNet:

Suggested Antigen Peptide Sequences for RGS9 Gene

GenScript: Design optimal peptide antigens:
  • RGS9 protein (Q4G1B2_HUMAN)
  • RGS9 protein (Q4QRI4_HUMAN)
  • Regulator of G-protein signaling 9 (RGS9_HUMAN)

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.
genes like me logo Genes that share domains with RGS9: view

Function for RGS9 Gene

Molecular function for RGS9 Gene

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 GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).
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

Phenotypes From GWAS Catalog for RGS9 Gene

Gene Ontology (GO) - Molecular Function for RGS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS --
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with RGS9: view
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:
  • Rgs9 Rgs9<tm1Citb>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RGS9

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RGS9 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
mitochondrion 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RGS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0098839 postsynaptic density membrane IEA --
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

Pathways by source for RGS9 Gene

Gene Ontology (GO) - Biological Process for RGS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001975 response to amphetamine IEA --
GO:0006457 protein folding TAS --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007212 dopamine receptor signaling pathway IEA --
GO:0007399 nervous system development 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

mRNA/cDNA for RGS9 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RGS9

Clone Products

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

Expression for RGS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for RGS9 Gene



Protein tissue co-expression partners for RGS9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RGS9

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).

Evidence on tissue expression from TISSUES for RGS9 Gene

  • Nervous system(4.5)
  • Eye(4.5)
  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RGS9 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with RGS9: view

Orthologs for RGS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGS9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RGS9 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RGS9 30 31
  • 88.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RGS9 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rgs9 30 17 31
  • 86.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rgs9 30
  • 86.49 (n)
Oppossum
(Monodelphis domestica)
Mammalia RGS9 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RGS9 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RGS9 30 31
  • 71.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RGS9 31
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rgs9-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii rgs9b 30 31
  • 60.47 (n)
ManyToMany
rgs9a 31
  • 57 (a)
ManyToMany
zgc73189 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG42450 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rgs-4 31
  • 30 (a)
ManyToMany
Species where no ortholog for RGS9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RGS9: view image

Paralogs for RGS9 Gene

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

  • RGS9_HUMAN
  • E9PD91_HUMAN
  • J3QL70_HUMAN
  • Q4G1B2_HUMAN
  • Q4QRI4_HUMAN
genes like me logo Genes that share paralogs with RGS9: view

Variants for RGS9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RGS9 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
708241 Likely Benign: not provided 65,160,537(+) C/G MISSENSE_VARIANT
710507 Benign: not provided 65,225,224(+) G/A MISSENSE_VARIANT
710508 Benign: not provided 65,225,445(+) G/C SYNONYMOUS_VARIANT
722677 Benign: not provided 65,168,269(+) G/C SYNONYMOUS_VARIANT
724415 Benign: not provided 65,158,318(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RGS9 Gene

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

Variant ID Type Subtype PubMed ID
esv1009898 CNV deletion 20482838
esv3554649 CNV deletion 23714750
nsv1120054 OTHER inversion 24896259

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)

Additional Variant Information for RGS9 Gene

Human Gene Mutation Database (HGMD)
RGS9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGS9

SNP Genotyping and Copy Number Assay Products

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

Disorders for RGS9 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RGS9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for RGS9

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

No data available for Genatlas for RGS9 Gene

Publications for RGS9 Gene

  1. Analysis of genetic variations in the RGS9 gene and antipsychotic-induced tardive dyskinesia in schizophrenia. (PMID: 18548510) Liou YJ … Lai IC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 41
  2. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PMID: 14702087) Nishiguchi KM … Dryja TP (Nature 2004) 3 4 23
  3. Structure, alternative splicing, and expression of the human RGS9 gene. (PMID: 10564809) Zhang K … Baehr W (Gene 1999) 3 4 23
  4. Molecular characterization of human and rat RGS 9L, a novel splice variant enriched in dopamine target regions, and chromosomal localization of the RGS 9 gene. (PMID: 9765512) Granneman JG … Cooper J (Molecular pharmacology 1998) 2 3 4
  5. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). (PMID: 19818506) Michaelides M … Webster AR (Ophthalmology 2010) 3 23

Products for RGS9 Gene

  • Signalway Proteins for RGS9

Sources for RGS9 Gene