Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GNA12 (G protein subunit alpha 12)

Identity

Alias_namesguanine nucleotide binding protein (G protein) alpha 12
Alias_symbol (synonym)gep
Other aliasNNX3
RMP
HGNC (Hugo) GNA12
LocusID (NCBI) 2768
Atlas_Id 40725
Location 7p22.3  [Link to chromosome band 7p22]
Location_base_pair Starts at 2767741 and ends at 2802774 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GNA12 (7p22.3) / ADSS (1q44)GNA12 (7p22.3) / SHANK2 (11q13.3)MALAT1 (11q13.1) / GNA12 (7p22.3)
MRC2 (17q23.2) / GNA12 (7p22.3)UBC (12q24.31) / GNA12 (7p22.3)GNA12 7p22.3 / ADSS 1q44

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GNA12   4380
Cards
Entrez_Gene (NCBI)GNA12  2768  G protein subunit alpha 12
AliasesNNX3; RMP; gep
GeneCards (Weizmann)GNA12
Ensembl hg19 (Hinxton)ENSG00000146535 [Gene_View]  chr7:2767741-2802774 [Contig_View]  GNA12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000146535 [Gene_View]  chr7:2767741-2802774 [Contig_View]  GNA12 [Vega]
ICGC DataPortalENSG00000146535
TCGA cBioPortalGNA12
AceView (NCBI)GNA12
Genatlas (Paris)GNA12
WikiGenes2768
SOURCE (Princeton)GNA12
Genetics Home Reference (NIH)GNA12
Genomic and cartography
GoldenPath hg19 (UCSC)GNA12  -     chr7:2767741-2802774 -  7p22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GNA12  -     7p22.3   [Description]    (hg38-Dec_2013)
EnsemblGNA12 - 7p22.3 [CytoView hg19]  GNA12 - 7p22.3 [CytoView hg38]
Mapping of homologs : NCBIGNA12 [Mapview hg19]  GNA12 [Mapview hg38]
OMIM604394   
Gene and transcription
Genbank (Entrez)AF493901 AI381970 AK024696 AK024834 AK025582
RefSeq transcript (Entrez)NM_001282440 NM_001282441 NM_001293092 NM_007353
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)GNA12
Cluster EST : UnigeneHs.487341 [ NCBI ]
CGAP (NCI)Hs.487341
Alternative Splicing GalleryENSG00000146535
Gene ExpressionGNA12 [ NCBI-GEO ]   GNA12 [ EBI - ARRAY_EXPRESS ]   GNA12 [ SEEK ]   GNA12 [ MEM ]
Gene Expression Viewer (FireBrowse)GNA12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2768
GTEX Portal (Tissue expression)GNA12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03113   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03113  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03113
Splice isoforms : SwissVarQ03113
PhosPhoSitePlusQ03113
Domains : Interpro (EBI)Gprotein_alpha_12/13    Gprotein_alpha_su    GproteinA_insert    P-loop_NTPase   
Domain families : Pfam (Sanger)G-alpha (PF00503)   
Domain families : Pfam (NCBI)pfam00503   
Domain families : Smart (EMBL)G_alpha (SM00275)  
Conserved Domain (NCBI)GNA12
DMDM Disease mutations2768
Blocks (Seattle)GNA12
SuperfamilyQ03113
Human Protein AtlasENSG00000146535
Peptide AtlasQ03113
HPRD05093
IPIIPI00328744   IPI01015018   IPI00893685   IPI00744363   IPI00894032   
Protein Interaction databases
DIP (DOE-UCLA)Q03113
IntAct (EBI)Q03113
FunCoupENSG00000146535
BioGRIDGNA12
STRING (EMBL)GNA12
ZODIACGNA12
Ontologies - Pathways
QuickGOQ03113
Ontology : AmiGOin utero embryonic development  GTPase activity  signal transducer activity  protein binding  GTP binding  heterotrimeric G-protein complex  plasma membrane  focal adhesion  G-protein coupled receptor signaling pathway  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  Rho protein signal transduction  blood coagulation  metabolic process  regulation of cell shape  regulation of fibroblast migration  cell differentiation  platelet activation  brush border membrane  G-protein beta/gamma-subunit complex binding  D5 dopamine receptor binding  regulation of TOR signaling  regulation of proteasomal ubiquitin-dependent protein catabolic process  response to drug  embryonic digit morphogenesis  metal ion binding  
Ontology : EGO-EBIin utero embryonic development  GTPase activity  signal transducer activity  protein binding  GTP binding  heterotrimeric G-protein complex  plasma membrane  focal adhesion  G-protein coupled receptor signaling pathway  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  Rho protein signal transduction  blood coagulation  metabolic process  regulation of cell shape  regulation of fibroblast migration  cell differentiation  platelet activation  brush border membrane  G-protein beta/gamma-subunit complex binding  D5 dopamine receptor binding  regulation of TOR signaling  regulation of proteasomal ubiquitin-dependent protein catabolic process  response to drug  embryonic digit morphogenesis  metal ion binding  
Pathways : BIOCARTAThrombin signaling and protease-activated receptors [Genes]    PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase [Genes]    Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation [Genes]   
Pathways : KEGGMAPK signaling pathway    Vascular smooth muscle contraction    Long-term depression    Regulation of actin cytoskeleton   
NDEx NetworkGNA12
Atlas of Cancer Signalling NetworkGNA12
Wikipedia pathwaysGNA12
Orthology - Evolution
OrthoDB2768
GeneTree (enSembl)ENSG00000146535
Phylogenetic Trees/Animal Genes : TreeFamGNA12
HOVERGENQ03113
HOGENOMQ03113
Homologs : HomoloGeneGNA12
Homology/Alignments : Family Browser (UCSC)GNA12
Gene fusions - Rearrangements
Fusion : MitelmanGNA12/ADSS [7p22.3/1q44]  
Fusion : MitelmanGNA12/SHANK2 [7p22.3/11q13.3]  [t(7;11)(p22;q13)]  
Fusion: TCGAGNA12 7p22.3 ADSS 1q44 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGNA12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GNA12
dbVarGNA12
ClinVarGNA12
1000_GenomesGNA12 
Exome Variant ServerGNA12
ExAC (Exome Aggregation Consortium)GNA12 (select the gene name)
Genetic variants : HAPMAP2768
Genomic Variants (DGV)GNA12 [DGVbeta]
DECIPHER (Syndromes)7:2767741-2802774  ENSG00000146535
CONAN: Copy Number AnalysisGNA12 
Mutations
ICGC Data PortalGNA12 
TCGA Data PortalGNA12 
Broad Tumor PortalGNA12
OASIS PortalGNA12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGNA12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGNA12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GNA12
DgiDB (Drug Gene Interaction Database)GNA12
DoCM (Curated mutations)GNA12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GNA12 (select a term)
intoGenGNA12
Cancer3DGNA12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604394   
Orphanet
MedgenGNA12
Genetic Testing Registry GNA12
NextProtQ03113 [Medical]
TSGene2768
GENETestsGNA12
Huge Navigator GNA12 [HugePedia]
snp3D : Map Gene to Disease2768
BioCentury BCIQGNA12
ClinGenGNA12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2768
Chemical/Pharm GKB GenePA28765
Clinical trialGNA12
Miscellaneous
canSAR (ICR)GNA12 (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGNA12
EVEXGNA12
GoPubMedGNA12
iHOPGNA12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:07:40 CET 2017

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