RGS9 (regulator of G protein signaling 9)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8787
Gene name Regulator of G protein signaling 9
Gene symbol RGS9
Synonyms (NCBI Gene)
PERRSPERRS1RGS9L
Chromosome 17
Chromosome location 17q24.1
Summary 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 p
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs121908449 T>C Pathogenic Coding sequence variant, missense variant
rs200798153 A>C,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs201026246 T>C Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, missense variant
rs574696410 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs786205509 C>T Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0001975 Process Response to amphetamine IEA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604067 10004 ENSG00000108370
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75916
Protein name Regulator of G-protein signaling 9 (RGS9)
Protein 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 transd
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00610 DEP 33 → 103 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF18148 RGS_DHEX 106 → 205 Regulator of G-protein signalling DHEX domain Domain
PF00631 G-gamma 219 → 283 GGL domain Domain
PF00615 RGS 302 → 416 Regulator of G protein signaling domain Domain
Tissue specificity 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
Sequence 
MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIV
QRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTD
YAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYAL
DCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRST
VKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWA
FNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAP
GARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKA
IEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHL
TVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKG
ECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLS
PKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGD
RATEKEVICPWESL
Sequence length 674
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phototransduction
Cocaine addiction 		  Inactivation, recovery and regulation of the phototransduction cascade
G alpha (i) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bradyopsia Pathogenic rs760312819, rs121908449 RCV003229575
RCV000006220
Leber congenital amaurosis Pathogenic rs121908449 RCV000787876
Retinal dystrophy Likely pathogenic rs199537336 RCV004813591
Uterine corpus endometrial carcinoma Likely pathogenic rs776501006 RCV005908969
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs760030262, rs16961081 RCV005911253
RCV005911287
Cholangiocarcinoma Benign rs16961081 RCV005911293
Gastric cancer Benign rs16961081 RCV005911290
Malignant lymphoma, large B-cell, diffuse Benign rs16961081 RCV005911288