Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RGS12 Gene

Aliases for RGS12 Gene

  • Regulator Of G-Protein Signaling 12 2 3 5
  • Regulator Of G-Protein Signalling 12 2

External Ids for RGS12 Gene

Previous GeneCards Identifiers for RGS12 Gene

  • GC04P003321
  • GC04P003349
  • GC04P003348
  • GC04P003352
  • GC04P003294

Summaries for RGS12 Gene

Entrez Gene Summary for RGS12 Gene

  • This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for RGS12 Gene

RGS12 (Regulator Of G-Protein Signaling 12) is a Protein Coding gene. Diseases associated with RGS12 include Bone Giant Cell Tumor. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include GTPase activator activity and GTPase regulator activity. An important paralog of this gene is RGS14.

UniProtKB/Swiss-Prot for RGS12 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.

  • Isoform 5: Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis.

Gene Wiki entry for RGS12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGS12 Gene

Genomics for RGS12 Gene

Regulatory Elements for RGS12 Gene

Enhancers for RGS12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around RGS12 on UCSC Golden Path with GeneCards custom track

Promoters for RGS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for RGS12 Gene

Chromosome:
4
Start:
3,292,978 bp from pter
End:
3,439,913 bp from pter
Size:
146,936 bases
Orientation:
Plus strand

Genomic View for RGS12 Gene

Genes around RGS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RGS12 Gene

Proteins for RGS12 Gene

  • Protein details for RGS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14924-RGS12_HUMAN
    Recommended name:
    Regulator of G-protein signaling 12
    Protein Accession:
    O14924
    Secondary Accessions:
    • B1AQ30
    • B1AQ31
    • B1AQ32
    • B7Z764
    • E7EMN9
    • O14922
    • O14923
    • O43510
    • O75338
    • Q147X0
    • Q8WX95

    Protein attributes for RGS12 Gene

    Size:
    1447 amino acids
    Molecular mass:
    156357 Da
    Quaternary structure:
    • Interacts with GNAI1 (PubMed:18434541). Interacts with GNAI2 and GNAI3; the interactions are GDP-dependent (By similarity).

    Three dimensional structures from OCA and Proteopedia for RGS12 Gene

    Alternative splice isoforms for RGS12 Gene

neXtProt entry for RGS12 Gene

Post-translational modifications for RGS12 Gene

  • Ubiquitination at Lys 1115
  • Modification sites at PhosphoSitePlus

Other Protein References for RGS12 Gene

No data available for DME Specific Peptides for RGS12 Gene

Domains & Families for RGS12 Gene

Graphical View of Domain Structure for InterPro Entry

O14924

UniProtKB/Swiss-Prot:

RGS12_HUMAN :
  • The GoLoco domain is necessary for interaction with GNAI1, GNAI2 and GNAI3.
Domain:
  • The GoLoco domain is necessary for interaction with GNAI1, GNAI2 and GNAI3.
  • Contains 1 GoLoco domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 PID domain.
  • Contains 2 RBD (Ras-binding) domains.
  • Contains 1 RGS domain.
genes like me logo Genes that share domains with RGS12: view

Function for RGS12 Gene

Molecular function for RGS12 Gene

GENATLAS Biochemistry:
negative regulator of G protein signaling 12,functioning as GTPase-activating protein for G protein alpha i and q subunits,with four alternatively spliced isoforms,highly expressed in brain,kidney,thymus,prostate,C elegans EGL-10 and yeast SST2 homolog
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.
UniProtKB/Swiss-Prot Function:
Isoform 5: Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis.

Gene Ontology (GO) - Molecular Function for RGS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0005057 receptor signaling protein activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
GO:0030695 GTPase regulator activity IDA 9651375
genes like me logo Genes that share ontologies with RGS12: view
genes like me logo Genes that share phenotypes with RGS12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RGS12

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RGS12 Gene

Localization for RGS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RGS12 Gene

Nucleus. Cytoplasm. Cell projection, dendrite. Cell junction, synapse.
Isoform 5: Nucleus matrix. Note=Also localized to discrete nuclear foci that are distinct from sites of RNA processing, PML nuclear bodies, and PcG domains. {ECO:0000269 PubMed:12024043}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RGS12 Gene COMPARTMENTS Subcellular localization image for RGS12 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for RGS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome TAS 10869340
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with RGS12: view

Pathways & Interactions for RGS12 Gene

genes like me logo Genes that share pathways with RGS12: view

Pathways by source for RGS12 Gene

Gene Ontology (GO) - Biological Process for RGS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007165 signal transduction IEA --
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway TAS 9651375
GO:0038032 termination of G-protein coupled receptor signaling pathway IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RGS12: view

No data available for SIGNOR curated interactions for RGS12 Gene

Drugs & Compounds for RGS12 Gene

No Compound Related Data Available

Transcripts for RGS12 Gene

Unigene Clusters for RGS12 Gene

Regulator of G-protein signaling 12:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RGS12 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8: - -
SP9:
SP10: -

ExUns: 20a · 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RGS12 Gene

GeneLoc Exon Structure for
RGS12
ECgene alternative splicing isoforms for
RGS12

Expression for RGS12 Gene

mRNA expression in normal human tissues for RGS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RGS12 Gene

This gene is overexpressed in Gallbladder (32.2), Frontal cortex (8.1), and Fetal Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RGS12 Gene



NURSA nuclear receptor signaling pathways regulating expression of RGS12 Gene:

RGS12

SOURCE GeneReport for Unigene cluster for RGS12 Gene:

Hs.527061

mRNA Expression by UniProt/SwissProt for RGS12 Gene:

O14924-RGS12_HUMAN
Tissue specificity: Isoform 3 is brain specific.
genes like me logo Genes that share expression patterns with RGS12: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for RGS12 Gene

Orthologs for RGS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGS12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RGS12 34
  • 82.97 (n)
  • 81.78 (a)
RGS12 35
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RGS12 34
  • 84.45 (n)
  • 84.69 (a)
RGS12 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rgs12 34
  • 82.47 (n)
  • 85.99 (a)
Rgs12 16
Rgs12 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RGS12 34
  • 99.12 (n)
  • 99.17 (a)
RGS12 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rgs12 34
  • 81.9 (n)
  • 85.35 (a)
oppossum
(Monodelphis domestica)
Mammalia RGS12 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RGS12 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGS12 34
  • 69.85 (n)
  • 73.87 (a)
RGS12 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RGS12 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731678 34
  • 64.9 (n)
  • 66.24 (a)
Str.6746 34
zebrafish
(Danio rerio)
Actinopterygii Dr.18694 34
rgs12b 34
  • 63.18 (n)
  • 63.98 (a)
rgs12a 35
  • 45 (a)
OneToMany
rgs12b 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta loco 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rgs-7 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5555 35
  • 21 (a)
ManyToMany
Species where no ortholog for RGS12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 RGS12 Gene

ENSEMBL:
Gene Tree for RGS12 (if available)
TreeFam:
Gene Tree for RGS12 (if available)

Paralogs for RGS12 Gene

Paralogs for RGS12 Gene

genes like me logo Genes that share paralogs with RGS12: view

Variants for RGS12 Gene

Sequence variations from dbSNP and Humsavar for RGS12 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2269497 - 3,428,129(+) ACAGA(A/G)CACAG reference, missense
rs7679941 - 3,316,843(+) CAAGT(A/G)TTTTA intron-variant, nc-transcript-variant, reference, missense
rs16844152 - 3,316,999(+) AGATC(A/T)TGCAC intron-variant, nc-transcript-variant, reference, missense
rs743699 -- 3,303,389(+) AGGGC(A/G)CCTGC intron-variant
rs743714 -- 3,418,259(-) CCACC(C/T)GCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RGS12 Gene

Variant ID Type Subtype PubMed ID
dgv637n27 CNV loss 19166990
dgv8923n54 CNV loss 21841781
dgv8924n54 CNV gain+loss 21841781
dgv8925n54 CNV gain 21841781
dgv8926n54 CNV loss 21841781
esv1534592 CNV deletion 17803354
esv1688529 CNV insertion 17803354
esv2328657 CNV deletion 18987734
esv24279 CNV gain 19812545
esv2677000 CNV deletion 23128226
esv2677976 CNV deletion 23128226
esv2726877 CNV deletion 23290073
esv2726878 CNV deletion 23290073
esv2726879 CNV deletion 23290073
esv2726880 CNV deletion 23290073
esv2726881 CNV deletion 23290073
esv2726882 CNV deletion 23290073
esv2759219 CNV gain 17122850
esv28164 CNV gain 19812545
esv3360977 CNV duplication 20981092
esv3437138 CNV duplication 20981092
esv3563266 CNV deletion 23714750
esv3563268 CNV deletion 23714750
esv3599424 CNV loss 21293372
esv3599425 CNV loss 21293372
esv3599426 CNV loss 21293372
esv3639 CNV loss 18987735
esv992281 CNV insertion 20482838
nsv1008575 CNV gain 25217958
nsv10424 CNV gain 18304495
nsv1073292 CNV deletion 25765185
nsv1074134 CNV deletion 25765185
nsv1112846 CNV deletion 24896259
nsv1117367 CNV tandem duplication 24896259
nsv1117959 CNV deletion 24896259
nsv1118995 CNV deletion 24896259
nsv1133575 CNV deletion 24896259
nsv290570 CNV deletion 16902084
nsv4201 CNV insertion 18451855
nsv4202 CNV deletion 18451855
nsv428435 CNV gain 18775914
nsv461165 CNV loss 19166990
nsv461169 CNV loss 19166990
nsv470004 CNV loss 18288195
nsv516505 CNV loss 19592680
nsv593445 CNV gain 21841781
nsv593447 CNV gain+loss 21841781
nsv593448 CNV loss 21841781
nsv593453 CNV loss 21841781
nsv593454 CNV loss 21841781
nsv593455 CNV gain+loss 21841781
nsv593456 CNV gain+loss 21841781
nsv593457 CNV loss 21841781
nsv818208 CNV loss 17921354
nsv949763 CNV deletion 24416366
nsv949764 CNV deletion 24416366
nsv949765 CNV deletion 24416366
nsv949766 CNV deletion 24416366

Variation tolerance for RGS12 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.55; 77.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RGS12 Gene

Human Gene Mutation Database (HGMD)
RGS12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGS12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RGS12 Gene

Disorders for RGS12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RGS12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bone giant cell tumor
  • giant cell myeloma
- elite association - COSMIC cancer census association via MalaCards
Search RGS12 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RGS12

Genetic Association Database (GAD)
RGS12
Human Genome Epidemiology (HuGE) Navigator
RGS12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RGS12
genes like me logo Genes that share disorders with RGS12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RGS12 Gene

Publications for RGS12 Gene

  1. GTPase activating specificity of RGS12 and binding specificity of an alternatively spliced PDZ (PSD-95/Dlg/ZO-1) domain. (PMID: 9651375) Snow B.E. … Siderovski D.P. (J. Biol. Chem. 1998) 2 3 4 22 65
  2. Novel alternative splicing and nuclear localization of human RGS12 gene products. (PMID: 10869340) Chatterjee T.K. … Fisher R.A. (J. Biol. Chem. 2000) 3 4 22 65
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 65
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 65
  5. Genetic variations in regulator of G-protein signaling genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma. (PMID: 20627871) Wang J. … Wu X. (Carcinogenesis 2010) 3 46 65

Products for RGS12 Gene

Sources for RGS12 Gene

Content
Loading form....