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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RGS9 Gene

protein-coding   GIFtS: 62
GCID: GC17P063133

Regulator Of G-Protein Signaling 9

(Previous name: regulator of G-protein signalling 9)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Regulator Of G-Protein Signaling 91 2     Regulator Of G Protein Signalling 9L1
Regulator Of G-Protein Signalling 91 2     Regulator Of G-Protein Signaling 9L1
PERRS2 5     RGS9L2
Regulator Of G Protein Signalling 91     

External Ids:    HGNC: 100041   Entrez Gene: 87872   Ensembl: ENSG000001083707   OMIM: 6040675   UniProtKB: O759163   

Export aliases for RGS9 gene to outside databases

Previous GC identifers: GC17M065188 GC17M068254 GC17P063551 GC17P063683 GC17P060564 GC17P058525


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tardive dyskinesia, and among its related super-pathways are The phototransduction cascade and Retinoid metabolism and transport. GO annotations related to this gene include protein complex binding and signal transducer activity. An important paralog of this gene is RGS14.

UniProtKB/Swiss-Prot: RGS9_HUMAN, O75916
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)

Gene Wiki entry for RGS9 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RGS9 gene promoter:
         NF-YB   CBF-B   CBF-A   NF-YA   HSF2   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRGS9 promoter sequence
   Search SABiosciences Chromatin IP Primers for RGS9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RGS9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24   Ensembl cytogenetic band:  17q24.1   HGNC cytogenetic band: 17q24

RGS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RGS9 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P063133:  view genomic region     (about GC identifiers)

Start:
63,133,456 bp from pter      End:
63,223,821 bp from pter
Size:
90,366 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RGS9_HUMAN, O75916 (See protein sequence)
Recommended Name: Regulator of G-protein signaling 9  
Size: 674 amino acids; 76966 Da
Subunit: 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)
Subcellular location: Isoform 3: Membrane; Peripheral membrane protein. Note=Isoform 3 is targeted to the membrane
via its interaction with RGS9BP (By similarity)
Sequence caution: Sequence=AAC25430.1; Type=Erroneous initiation;
Secondary accessions: A8K3C0 O75573 Q696R2 Q8TD64 Q8TD65 Q9HC32 Q9HC33
Alternative splicing: 5 isoforms:  O75916-1   O75916-2   O75916-3   O75916-4   O75916-5   

Explore the universe of human proteins at neXtProt for RGS9: NX_O75916

Explore proteomics data for RGS9 at MOPED 

Post-translational modifications:

  • UniProtKB: Retinal isoform 3 is light-dependent phosphorylated at 'Ser-478'. Phosphorylation is decreased by light exposition
    (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75916

  • RGS9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RGS9 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001075424.1  NP_001159405.1  NP_003826.2  

    ENSEMBL proteins: 
     ENSP00000405814   ENSP00000463410   ENSP00000396329   ENSP00000262406  
    Reactome Protein details: O75916
    Human Recombinant Protein Products for RGS9: 
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    Cloud-Clone Corp. Proteins for RGS9 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IBA--
    GO:0005834heterotrimeric G-protein complex IEA--
    GO:0005886plasma membrane IBA--

    RGS9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RGS: Regulators of G-protein signaling

    5/6 InterPro protein domains (see all 6):
     IPR024066 Regulat_G_prot_signal_dom1
     IPR011991 WHTH_DNA-bd_dom
     IPR000342 Regulat_G_prot_signal
     IPR016137 Regulat_G_prot_signal_superfam
     IPR000591 DEP_dom

    Graphical View of Domain Structure for InterPro Entry O75916

    ProtoNet protein and cluster: O75916

    3 Blocks protein domains:
    IPB000342 Regulator of G-protein signalling (RGS) protein signature
    IPB000591 Pleckstrin putative G-protein interacting domain
    IPB001770 Gamma G-protein (transducin) signature


    UniProtKB/Swiss-Prot: RGS9_HUMAN, O75916
    Domain: In photoreceptor cells the DEP domain is essential for targeting RGS9 to the outer rod segments
    Similarity: Contains 1 DEP domain
    Similarity: Contains 1 G protein gamma domain
    Similarity: Contains 1 RGS domain


    RGS9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RGS9_HUMAN, O75916
    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)

         Genatlas biochemistry entry for RGS9:
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005096GTPase activator activity IBA--
    GO:0032403protein complex binding IEA--
         
    RGS9 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rgs9):
     behavior/neurological  nervous system  vision/eye 

    RGS9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rgs9tm1Citb for RGS9

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RGS9 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RGS9 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual signal transduction- Rods
    Visual signal transduction- Rods0.54
    Phototransduction0.46
    The phototransduction cascade0.54
    Visual signal transduction- Cones0.39
    Inactivation, recovery and regulation of the phototransduction cascade0.51
    2Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    3G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    G-AlphaI Signaling0.47
    4Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    5Activation of cAMP-Dependent PKA
    cAMP Pathway0.77

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RGS9
        cAMP Pathway
    Visual Cycle in Retinal Rods
    G-AlphaI Signaling
    G-AlphaQ Signaling

    4 BioSystems Pathways for RGS9
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Visual signal transduction- Rods
    Visual signal transduction- Cones

    5/6        Reactome Pathways for RGS9 (see all 6)
        Diseases associated with visual transduction
    The phototransduction cascade
    Signal Transduction
    Visual phototransduction
    Disease


    2         Kegg Pathways  (Kegg details for RGS9):
        Phototransduction
    Cocaine addiction


    RGS9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RGS9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for RGS9 (O759162, 3 ENSP000002624064) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAT1P114883, ENSP000002324614I2D: score=2 STRING: ENSP00000232461
    H3F3AP842433I2D: score=1 
    H3F3BP842433I2D: score=1 
    GNB5O147753, ENSP000002618374I2D: score=1 STRING: ENSP00000261837
    GNAT2ENSP000002513374STRING: ENSP00000251337
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007212dopamine receptor signaling pathway IEA--
    GO:0007399nervous system development IEA--
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--

    RGS9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RGS9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RGS9

    2 Novoseek inferred chemical compound relationships for RGS9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 44.3 1 9459445 (1)
    cgmp 43.8 1 9560279 (1)

    Search CenterWatch for drugs/clinical trials and news about RGS9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RGS9 gene (3 alternative transcripts): 
    NM_001081955.2  NM_001165933.1  NM_003835.3  

    Unigene Cluster for RGS9:

    Regulator of G-protein signaling 9
    Hs.664380  [show with all ESTs]
    Unigene Representative Sequence: NM_003835
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583473 ENST00000443584(uc021ubw.1 uc010dem.3) ENST00000584234
    ENST00000449996(uc002jfd.3 uc002jfe.3) ENST00000262406 ENST00000581175
    ENST00000577186 ENST00000577595(uc002jfg.3)

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    Additional mRNA sequence: 

    AF071476.1 AF493932.1 AF493933.1 AK289876.1 AK290535.1 AK301719.1 AK309061.1 AY585190.1 
    AY585191.1 BC022504.1 BC096843.1 

    5 DOTS entries:

    DT.306203  DT.92419074  DT.100711337  DT.120927033  DT.91649939 

    24/43 AceView cDNA sequences (see all 43):

    CD105605 AY585190 BM931191 AF071476 AY585191 CR613211 BQ632133 BF448133 
    AA653129 BM559800 BQ053968 AA915931 BG014093 AF493933 BM922571 BC022504 
    AL712342 AL523317 AF493932 CB565898 AA678971 BQ053370 BQ189679 CB565899 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RGS9    About this scheme

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for RGS9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RGS9 expression in normal human tissues (normalized intensities)      RGS9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACCAGAA
    RGS9 Expression
    About this image


    RGS9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 27 entries
             Globus Pallidus
             striatum   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Cumulus Cells Antral Follicle
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Pancreas (Endocrine System)

     -- (Endocrine System)
             Pituitary gland   

    See RGS9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RGS9

    SOURCE GeneReport for Unigene cluster: Hs.664380

    UniProtKB/Swiss-Prot: RGS9_HUMAN, O75916
    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)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RGS9 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rgs91 , 5 regulator of G-protein signaling 91, 5 86.55(n)1
    91.63(a)1
      11 (71.86 cM)5
    197391  NM_011268.21  NP_035398.21 
     1092253555 
    chicken
    (Gallus gallus)
    Aves RGS91 regulator of G-protein signaling 9 72.26(n)
    72.31(a)
      417433  XM_415685.3  XP_415685.3 
    lizard
    (Anolis carolinensis)
    Reptilia RGS96
    Uncharacterized protein
    64(a)
    1 ↔ 1
    GL343260.1(1267284-1346087)
    African clawed frog
    (Xenopus laevis)
    Amphibia rgs9-A-prov2 regulator of G-protein signalling 9 86.8(n)    AB038437.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731892 hypothetical protein MGC73189 72.38(n)   393803  BC060915.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG424506
    --
    16(a)
    1 → many
    X(18707657-18724297)
    worm
    (Caenorhabditis elegans)
    Secernentea eat-166
    Protein EAT-16, isoform a
    30(a)
    1 → many
    I(9722550-9725611)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RGS9 gene
    RGS142  RGS112  RGS122  RGS102  RGS72  RGS62  
    17 SIMAP similar genes for RGS9 using alignment to 5 protein entries:     RGS9_HUMAN (see all proteins):
    RGS11    RGS20    RGS10    RGS17    RGS18    RGS5
    RGS6    RGS7    RGS4    RGS1    RGS19    RGS13
    RGS2    RGS3    RGS21    RGS16    RGS8

    RGS9 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2319 SNPs in RGS9 are shown (see all 2319)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0179124
    Prolonged electroretinal response suppression (PERRS)4--see VAR_0179122 W R mis40--------
    rs1219084491,2
    Cpathogenic164247302(+) AACGAT/CGGGCC 6 /R /W mis11Minor allele frequency- C:0.00EU 1323
    rs360627841,2
    C--58536123(+) AAACT-/TTTTTTTT 3 -- cds10--------
    rs112892851,2
    C--58537674(+) TTTTT-/G/G   
      TTG
    /TT
    TTGTT
    3 -- int12NA 4
    rs1496186321,2
    C--58537674(+) TTTTT-/GTTG  
            
    TTGTT
    3 -- int10--------
    rs112892861,2
    C--58537677(+) TTGTTG/-TTGTT 3 -- int12Minor allele frequency- -:0.00NA 4
    rs2012463421,2
    --58539893(+) AAAAA-/AGAGTCC 3 -- int10--------
    rs113406951,2
    C--58539894(+) AAAAAG/-AGTCC 3 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs760064701,2
    C--58539894(+) AAAAAA/GAGTCC 3 -- int12Minor allele frequency- G:0.33WA CSA 3
    rs114244651,2
    C--63132758(+) AAAAA-/AGTTAA 3 -- us2k1 tfbs3 trp30--------

    HapMap Linkage Disequilibrium report for RGS9 (63133456 - 63223821 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RGS9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1009898CNV Deletion20482838


    Human Gene Mutation Database (HGMD): RGS9
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RGS9
    DNA2.0 Custom Variant and Variant Library Synthesis for RGS9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604067   
    OMIM disorders: 608415  
    UniProtKB/Swiss-Prot: RGS9_HUMAN, O75916
  • Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting
    to sudden changes in luminance levels mediated by cones. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 9 diseases for RGS9:    About MalaCards
    bradyopsia    tardive dyskinesia    pharyngitis    retinitis
    retinitis pigmentosa    atherosclerosis    parkinson's disease    schizophrenia
    squamous cell carcinoma


    RGS9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): RGS9
    Human Genome Epidemiology (HuGE) Navigator: RGS9 (6 documents)

    Export disorders for RGS9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RGS9 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with RGS9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of human and rat RGS9L, a novel splice variant enriched in dopamine target regions, and chromosomal localization of the RGS9 gene. (PubMed id 9765512)1, 2, 3 Granneman J.G.... Cooper J. (1998)
    2. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PubMed id 14702087)1, 2, 9 Nishiguchi K.M.... Dryja T.P. (2004)
    3. Analysis of genetic variations in the RGS9 gene and antipsychotic-induced tardive dyskinesia in schizophrenia. (PubMed id 18548510)1, 4, 9 Liou Y.J....Lai I.C. (2008)
    4. Structure, alternative splicing, and expression of the human RGS9 gene. (PubMed id 10564809)1, 2, 9 Zhang K.... Baehr W. (1999)
    5. Genetic variations in regulator of G-protein signalin g genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma. (PubMed id 20627871)1, 4 Wang J....Wu X. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    8. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    9. The DEP domain determines subcellular targeting of the GTPase activating protein RGS9 in vivo. (PubMed id 14614075)1, 2 Martemyanov K.A.... Arshavsky V.Y. (2003)
    10. [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa] (PubMed id 15901556)1, 4 Zhang Q.J....Guo X.M. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8787 HGNC: 10004 AceView: RGS9 Ensembl:ENSG00000108370 euGenes: HUgn8787
    ECgene: RGS9 Kegg: 8787 H-InvDB: RGS9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RGS9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RGS9 gene:
    Search GeneIP for patents involving RGS9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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