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Aliases for RGS6 Gene

Aliases for RGS6 Gene

  • Regulator Of G Protein Signaling 6 2 3 5
  • Regulator Of G-Protein Signalling 6 2 3
  • Regulator Of G-Protein Signaling 6 2 3
  • S914 3 4
  • HA117 3
  • GAP 3

External Ids for RGS6 Gene

Previous GeneCards Identifiers for RGS6 Gene

  • GC14P069904
  • GC14P066195
  • GC14P070389
  • GC14P071469
  • GC14P072399
  • GC14P052566

Summaries for RGS6 Gene

Entrez Gene Summary for RGS6 Gene

  • This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]

GeneCards Summary for RGS6 Gene

RGS6 (Regulator Of G Protein Signaling 6) is a Protein Coding gene. Diseases associated with RGS6 include Early-Onset Familial Alzheimer Disease and Alcoholic Cardiomyopathy. Among its related pathways are Signaling by GPCR and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include signal transducer activity and protein domain specific binding. An important paralog of this gene is RGS7.

UniProtKB/Swiss-Prot for RGS6 Gene

  • Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509).

Gene Wiki entry for RGS6 Gene

Additional gene information for RGS6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGS6 Gene

Genomics for RGS6 Gene

GeneHancer (GH) Regulatory Elements for RGS6 Gene

Promoters and enhancers for RGS6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I071931 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 +0.6 556 1.8 RB1 SIN3A BATF RAD21 KLF5 ELK1 ZNF143 ZNF207 IKZF2 BCLAF1 RGS6 GC14M071968
GH14I072352 Promoter 0.6 EPDnew 550 +420.0 420019 0.1 JUNB RGS6 GC14P072368 GC14P072267
GH14I071930 Enhancer 0.4 FANTOM5 553.4 -1.1 -1106 0 EZH2 RGS6 SIPA1L1 GC14M071921
GH14I072800 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.7 +870.1 870115 2.8 ZBTB21 JUN INSM2 KLF17 ZNF335 FOSL1 ZNF366 FOSL2 FOS ZNF600 RGS6 ACOT2 GC14M072730 ENSG00000206751 GC14M072854 DPF3
GH14I071803 Enhancer 0.8 ENCODE 5.5 -128.1 -128066 1.8 ZNF529 ZFP64 FEZF1 ZNF213 ZNF354C RCOR1 FOS ZNF202 ZBTB11 ZC3H11A PTTG4P PCNX1 RGS6 LOC105370558 GC14M071838 GC14P071740
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RGS6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RGS6 gene promoter:

Genomic Locations for RGS6 Gene

Genomic Locations for RGS6 Gene
chr14:71,932,100-72,566,530
(GRCh38/hg38)
Size:
634,431 bases
Orientation:
Plus strand
chr14:72,398,817-73,033,238
(GRCh37/hg19)

Genomic View for RGS6 Gene

Genes around RGS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RGS6 Gene

Proteins for RGS6 Gene

  • Protein details for RGS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49758-RGS6_HUMAN
    Recommended name:
    Regulator of G-protein signaling 6
    Protein Accession:
    P49758
    Secondary Accessions:
    • C9JE95
    • F8W7W5
    • O75576
    • O75577
    • Q7Z4K3
    • Q7Z4K4
    • Q7Z4K5
    • Q7Z4K6
    • Q8TE13
    • Q8TE14
    • Q8TE15
    • Q8TE16
    • Q8TE17
    • Q8TE18
    • Q8TE19
    • Q8TE20
    • Q8TE21
    • Q8TE22
    • Q9UDS8
    • Q9UDT0
    • Q9Y245
    • Q9Y647

    Protein attributes for RGS6 Gene

    Size:
    472 amino acids
    Molecular mass:
    54423 Da
    Quaternary structure:
    • Interacts with GNB5 (PubMed:12761221, PubMed:10339615, PubMed:10521509). Interacts with RGS7BP, leading to regulate the subcellular location of the heterodimer formed with GNB5 (By similarity). Interacts with GNAI1 (PubMed:18434541).
    SequenceCaution:
    • Sequence=AAC42001.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RGS6 Gene

neXtProt entry for RGS6 Gene

Post-translational modifications for RGS6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RGS6 Gene

Domains & Families for RGS6 Gene

Gene Families for RGS6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P49758

UniProtKB/Swiss-Prot:

RGS6_HUMAN :
  • The RGS domain interacts avidly with Galpha and mediates the acceleration of Galpha-mediated GTP hydrolysis.
Domain:
  • The RGS domain interacts avidly with Galpha and mediates the acceleration of Galpha-mediated GTP hydrolysis.
genes like me logo Genes that share domains with RGS6: view

Function for RGS6 Gene

Molecular function for RGS6 Gene

GENATLAS Biochemistry:
negative regulator of G protein signaling 6,functioning as GTPase-activating protein for G protein alpha i and q subunits,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509).

Phenotypes From GWAS Catalog for RGS6 Gene

Gene Ontology (GO) - Molecular Function for RGS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0005096 GTPase activator activity TAS,IDA 10521509
GO:0005515 protein binding IPI 22939624
genes like me logo Genes that share ontologies with RGS6: view
genes like me logo Genes that share phenotypes with RGS6: view

Animal Models for RGS6 Gene

MGI Knock Outs for RGS6:

Animal Model Products

  • Taconic Biosciences Mouse Models for RGS6

miRNA for RGS6 Gene

miRTarBase miRNAs that target RGS6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RGS6 Gene

Localization for RGS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RGS6 Gene

Cytoplasm. Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Nucleus. Cell membrane. Note=Interaction with GNB5 mediates translocation to the nucleus. {ECO:0000269 PubMed:12761221}.

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 RGS6 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for RGS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,IEA 10521509
GO:0005834 heterotrimeric G-protein complex IEA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with RGS6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RGS6 Gene

Pathways & Interactions for RGS6 Gene

genes like me logo Genes that share pathways with RGS6: view

Gene Ontology (GO) - Biological Process for RGS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway TAS 10083744
GO:0009968 negative regulation of signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IDA 10521509
genes like me logo Genes that share ontologies with RGS6: view

No data available for SIGNOR curated interactions for RGS6 Gene

Drugs & Compounds for RGS6 Gene

No Compound Related Data Available

Transcripts for RGS6 Gene

Unigene Clusters for RGS6 Gene

Regulator of G-protein signaling 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RGS6 Gene

No ASD Table

Relevant External Links for RGS6 Gene

GeneLoc Exon Structure for
RGS6
ECgene alternative splicing isoforms for
RGS6

Expression for RGS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RGS6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RGS6 Gene

This gene is overexpressed in Brain - Cortex (x5.3) and Brain - Frontal Cortex (BA9) (x4.6).

Protein differential expression in normal tissues from HIPED for RGS6 Gene

This gene is overexpressed in Brain (26.9), Peripheral blood mononuclear cells (16.8), Platelet (9.8), and Frontal cortex (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RGS6 Gene



Protein tissue co-expression partners for RGS6 Gene

NURSA nuclear receptor signaling pathways regulating expression of RGS6 Gene:

RGS6

SOURCE GeneReport for Unigene cluster for RGS6 Gene:

Hs.509872

Evidence on tissue expression from TISSUES for RGS6 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RGS6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RGS6 Gene

Orthologs for RGS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RGS6 33 34
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia RGS6 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RGS6 33 34
  • 93.13 (n)
dog
(Canis familiaris)
Mammalia RGS6 34 33
  • 92.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rgs6 33 16 34
  • 92.02 (n)
rat
(Rattus norvegicus)
Mammalia Rgs6 33
  • 91.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RGS6 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGS6 33 34
  • 83.33 (n)
lizard
(Anolis carolinensis)
Reptilia RGS6 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rgs6 33
  • 78.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68862 33
zebrafish
(Danio rerio)
Actinopterygii rgs6 33 34
  • 74.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003718 33
  • 57.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta RSG7 35 34
  • 54 (a)
CG7095 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-10 35 33 34
  • 55.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2539 33
Species where no ortholog for RGS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for RGS6 Gene

ENSEMBL:
Gene Tree for RGS6 (if available)
TreeFam:
Gene Tree for RGS6 (if available)

Paralogs for RGS6 Gene

Paralogs for RGS6 Gene

(17) SIMAP similar genes for RGS6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RGS6: view

Variants for RGS6 Gene

Sequence variations from dbSNP and Humsavar for RGS6 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000002332 -- 72,604,911(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000005487 -- 72,230,575(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000014136 -- 71,958,447(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000017254 -- 71,976,402(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000017973 -- 72,077,811(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RGS6 Gene

Variant ID Type Subtype PubMed ID
dgv1294e59 CNV tandem duplication 20981092
dgv132e215 CNV deletion 23714750
esv1245851 CNV deletion 17803354
esv1941080 CNV deletion 18987734
esv2664196 CNV deletion 23128226
esv2748857 CNV deletion 23290073
esv2748858 CNV deletion 23290073
esv2748859 CNV deletion 23290073
esv275248 CNV loss 21479260
esv2759995 CNV loss 17122850
esv3184683 CNV deletion 24192839
esv3425386 CNV duplication 20981092
esv3446866 CNV insertion 20981092
esv3581284 CNV loss 25503493
esv3581285 CNV loss 25503493
esv3634884 CNV loss 21293372
esv3634885 CNV loss 21293372
esv3634887 CNV loss 21293372
esv3634888 CNV loss 21293372
esv3634889 CNV loss 21293372
esv3892558 CNV gain 25118596
esv6995 CNV gain 19470904
esv9494 CNV gain 19470904
esv989746 CNV deletion 20482838
nsv1041759 CNV gain 25217958
nsv1053520 CNV loss 25217958
nsv1078208 CNV insertion 25765185
nsv1108908 CNV deletion 24896259
nsv1116748 CNV tandem duplication 24896259
nsv1122911 CNV deletion 24896259
nsv1134390 CNV deletion 24896259
nsv1142850 CNV tandem duplication 24896259
nsv1146500 CNV insertion 26484159
nsv1151768 CNV insertion 26484159
nsv1346 CNV insertion 18451855
nsv1347 CNV insertion 18451855
nsv437796 CNV loss 16327808
nsv442345 CNV loss 18776908
nsv474820 CNV novel sequence insertion 20440878
nsv476337 CNV novel sequence insertion 20440878
nsv518009 CNV loss 19592680
nsv518320 CNV loss 19592680
nsv819274 CNV loss 19587683
nsv85657 CNV deletion 16902084
nsv952865 CNV duplication 24416366
nsv977614 CNV duplication 23825009

Variation tolerance for RGS6 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RGS6 Gene

Human Gene Mutation Database (HGMD)
RGS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGS6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RGS6 Gene

Disorders for RGS6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RGS6 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
early-onset familial alzheimer disease
  • eofad
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
- elite association - COSMIC cancer census association via MalaCards
Search RGS6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RGS6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RGS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RGS6 Gene

Publications for RGS6 Gene

  1. A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans. (PMID: 16691626) Gu J … Berman DM (Cancer 2006) 3 22 44 58
  2. Human RGS6 gene structure, complex alternative splicing, and role of N terminus and G protein gamma-subunit-like (GGL) domain in subcellular localization of RGS6 splice variants. (PMID: 12761221) Chatterjee TK … Fisher RA (The Journal of biological chemistry 2003) 3 4 22 58
  3. Regulators of G protein signaling 6 and 7. Purification of complexes with gbeta5 and assessment of their effects on g protein-mediated signaling pathways. (PMID: 10521509) Posner BA … Harris BA (The Journal of biological chemistry 1999) 3 4 22 58
  4. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (PMID: 21300955) Dehghan A … Chasman DI (Circulation 2011) 3 44 58
  5. Genome-wide population-based association study of extremely overweight young adults--the GOYA study. (PMID: 21935397) Paternoster L … Sørensen TI (PloS one 2011) 3 44 58

Products for RGS6 Gene

Sources for RGS6 Gene

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