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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
  • S914 3 4
  • 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 Parkes Weber Syndrome and Capillary Malformation-Arteriovenous Malformation. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Signaling by GPCR. GO annotations related to this gene include signal transducer activity and protein domain specific binding. An important paralog of this gene is RGS12.

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

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

Genomics for RGS6 Gene

Regulatory Elements for RGS6 Gene

Enhancers for RGS6 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 RGS6 on UCSC Golden Path with GeneCards custom track

Genomic Location for RGS6 Gene

Chromosome:
14
Start:
71,932,100 bp from pter
End:
72,566,530 bp from pter
Size:
634,431 bases
Orientation:
Plus strand

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

Proteomics data for RGS6 Gene at MOPED

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

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.
  • Contains 1 DEP domain.
  • Contains 1 G protein gamma domain.
  • Contains 1 RGS domain.
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).

Gene Ontology (GO) - Molecular Function for RGS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,TAS 10521509
genes like me logo Genes that share ontologies with RGS6: view

Phenotypes for RGS6 Gene

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

Flow Cytometry 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
Jensen Localization Image for RGS6 Gene COMPARTMENTS Subcellular localization image for RGS6 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for RGS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with RGS6: view

Pathways & Interactions for RGS6 Gene

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

Gene Ontology (GO) - Biological Process for RGS6 Gene

None

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:

Flow Cytometry 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 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



SOURCE GeneReport for Unigene cluster for RGS6 Gene Hs.509872

genes like me logo Genes that share expression patterns with RGS6: view

Protein tissue co-expression partners for RGS6 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RGS6 35
  • 93.13 (n)
  • 97.96 (a)
RGS6 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RGS6 35
  • 92.86 (n)
  • 97.76 (a)
RGS6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rgs6 35
  • 92.02 (n)
  • 97.67 (a)
Rgs6 16
Rgs6 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RGS6 35
  • 99.73 (n)
  • 100 (a)
RGS6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rgs6 35
  • 91.88 (n)
  • 98.09 (a)
oppossum
(Monodelphis domestica)
Mammalia RGS6 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RGS6 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGS6 35
  • 83.33 (n)
  • 92.8 (a)
RGS6 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RGS6 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rgs6 35
  • 78.66 (n)
  • 87.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68862 35
zebrafish
(Danio rerio)
Actinopterygii rgs6 35
  • 74.91 (n)
  • 82.41 (a)
rgs6 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7095 37
  • 40 (a)
RSG7 37
  • 54 (a)
RSG7 36
  • 39 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003718 35
  • 57.72 (n)
  • 56.71 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-10 37
  • 62 (a)
egl-10 35
  • 55.7 (n)
  • 53.42 (a)
egl-10 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2539 35
Species with no ortholog for RGS6:
  • 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 Sequence Context AA Info Type
rs20838 -- 72,177,818(-) AGTAA(A/T)TTCCA intron-variant
rs36318 -- 71,942,635(-) GGGAA(A/G)TGGTA intron-variant
rs36319 -- 71,942,298(-) GTAAC(A/G)GTGAA intron-variant
rs36320 -- 71,936,697(-) caaca(A/G)catgt intron-variant
rs36321 -- 71,932,602(-) CCCAG(C/G)CGTTC intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2748857 CNV Deletion 23290073
esv1941080 CNV Deletion 18987734
esv2748858 CNV Deletion 23290073
esv989746 CNV Deletion 20482838
esv1245851 CNV Deletion 17803354
nsv85657 CNV Loss 16902084
nsv902076 CNV Gain 21882294
dgv1956n71 CNV Gain 21882294
nsv518009 CNV Loss 19592680
nsv437796 CNV Loss 16327808
essv3245 CNV CNV 17122850
dgv640e1 CNV Complex 17122850
esv2664196 CNV Deletion 23128226
esv2748859 CNV Deletion 23290073
nsv819274 CNV Loss 19587683
nsv442345 CNV CNV 18776908
nsv1346 CNV Insertion 18451855
esv259574 OTHER Complex 20981092
esv259732 OTHER Complex 20981092
esv9494 CNV Gain 19470904
esv275248 CNV Loss 21479260
nsv1347 CNV Insertion 18451855
nsv518320 CNV Loss 19592680

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)

Relevant External Links for RGS6 Gene

Human Gene Mutation Database (HGMD)
RGS6

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

Disorders for RGS6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RGS6 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
parkes weber syndrome
  • pkws
capillary malformation-arteriovenous malformation
  • capillary malformation-arteriovenous malformation syndrome
basal cell carcinoma 1
  • basal cell carcinoma, somatic
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

Relevant External Links for RGS6

Genetic Association Database (GAD)
RGS6
Human Genome Epidemiology (HuGE) Navigator
RGS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RGS6
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. 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 T.K. … Fisher R.A. (J. Biol. Chem. 2003) 3 4 23 67
  2. 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 D.M. (Cancer 2006) 3 23
  3. RGS6 interacts with DMAP1 and DNMT1 and inhibits DMAP1 transcriptional repressor activity. (PMID: 14734556) Liu Z. … Fisher R.A. (J. Biol. Chem. 2004) 2 3
  4. Mild heat and proteotoxic stress promote unique subcellular trafficking and nucleolar accumulation of RGS6 and other RGS proteins. Role of the RGS domain in stress-induced trafficking of RGS proteins. (PMID: 12761220) Chatterjee T.K. … Fisher R.A. (J. Biol. Chem. 2003) 3 23
  5. The human regulator of G-protein signaling protein 6 gene (RGS6) maps between markers WI-5202 and D14S277 on chromosome 14q24.3. (PMID: 10083744) Seki N. … Saito T. (J. Hum. Genet. 1999) 2 3

Products for RGS6 Gene

Sources for RGS6 Gene

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