Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PPP1R12A (protein phosphatase 1 regulatory subunit 12A)

Identity

Other namesM130
MBS
MYPT1
HGNC (Hugo) PPP1R12A
LocusID (NCBI) 4659
Atlas_Id 47222
Location 12q21.2
Location_base_pair Starts at 80167343 and ends at 80329235 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
MLLT6 17q12 / PPP1R12A 12q21.2PPP1R12A 12q21.2 / MGAT4C 12q21.31

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)PPP1R12A   7618
Cards
Entrez_Gene (NCBI)PPP1R12A  4659  protein phosphatase 1 regulatory subunit 12A
GeneCards (Weizmann)PPP1R12A
Ensembl hg19 (Hinxton)ENSG00000058272 [Gene_View]  chr12:80167343-80329235 [Contig_View]  PPP1R12A [Vega]
Ensembl hg38 (Hinxton)ENSG00000058272 [Gene_View]  chr12:80167343-80329235 [Contig_View]  PPP1R12A [Vega]
ICGC DataPortalENSG00000058272
TCGA cBioPortalPPP1R12A
AceView (NCBI)PPP1R12A
Genatlas (Paris)PPP1R12A
WikiGenes4659
SOURCE (Princeton)PPP1R12A
Genomic and cartography
GoldenPath hg19 (UCSC)PPP1R12A  -     chr12:80167343-80329235 -  12q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PPP1R12A  -     12q21.2   [Description]    (hg38-Dec_2013)
EnsemblPPP1R12A - 12q21.2 [CytoView hg19]  PPP1R12A - 12q21.2 [CytoView hg38]
Mapping of homologs : NCBIPPP1R12A [Mapview hg19]  PPP1R12A [Mapview hg38]
OMIM602021   
Gene and transcription
Genbank (Entrez)AF086032 AF458589 AK057712 AK125671 AK302692
RefSeq transcript (Entrez)NM_001143885 NM_001143886 NM_001244990 NM_001244992 NM_002480
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)PPP1R12A
Cluster EST : UnigeneHs.49582 [ NCBI ]
CGAP (NCI)Hs.49582
Alternative Splicing : Fast-db (Paris)GSHG0007649
Alternative Splicing GalleryENSG00000058272
Gene ExpressionPPP1R12A [ NCBI-GEO ]     PPP1R12A [ SEEK ]   PPP1R12A [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4659
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14974 (Uniprot)
NextProtO14974  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14974
Splice isoforms : SwissVarO14974 (Swissvar)
PhosPhoSitePlusO14974
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    MYPT1/MYPT2_chordates   
Domain families : Pfam (Sanger)Ank (PF00023)   
Domain families : Pfam (NCBI)pfam00023   
Domain families : Smart (EMBL)ANK (SM00248)  
DMDM Disease mutations4659
Blocks (Seattle)PPP1R12A
PDB (SRS)2KJY    2MXR   
PDB (PDBSum)2KJY    2MXR   
PDB (IMB)2KJY    2MXR   
PDB (RSDB)2KJY    2MXR   
Structural Biology KnowledgeBase2KJY    2MXR   
SCOP (Structural Classification of Proteins)2KJY    2MXR   
CATH (Classification of proteins structures)2KJY    2MXR   
Human Protein AtlasENSG00000058272
Peptide AtlasO14974
HPRD03606
IPIIPI00183002   IPI00397728   IPI00413191   IPI00397730   IPI01015009   IPI01021531   IPI01025264   IPI01015368   IPI00816559   IPI01022049   IPI01022374   IPI01022529   IPI01021639   IPI01021808   IPI01021963   IPI01020925   IPI01021077   IPI01021487   
Protein Interaction databases
DIP (DOE-UCLA)O14974
IntAct (EBI)O14974
FunCoupENSG00000058272
BioGRIDPPP1R12A
IntegromeDBPPP1R12A
STRING (EMBL)PPP1R12A
ZODIACPPP1R12A
Ontologies - Pathways
QuickGOO14974
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  kinetochore  enzyme inhibitor activity  signal transducer activity  protein binding  nucleoplasm  cytoplasm  centrosome  cytosol  focal adhesion  protein dephosphorylation  mitotic nuclear division  small GTPase mediated signal transduction  actin cytoskeleton  phosphatase regulator activity  phosphatase regulator activity  protein kinase binding  Z disc  regulation of cell adhesion  A band  regulation of myosin-light-chain-phosphatase activity  positive regulation of myosin-light-chain-phosphatase activity  negative regulation of catalytic activity  contractile fiber  positive regulation of transcription from RNA polymerase II promoter  regulation of nucleocytoplasmic transport  centrosome organization  14-3-3 protein binding  PTW/PP1 phosphatase complex  regulation of establishment of endothelial barrier  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  kinetochore  enzyme inhibitor activity  signal transducer activity  protein binding  nucleoplasm  cytoplasm  centrosome  cytosol  focal adhesion  protein dephosphorylation  mitotic nuclear division  small GTPase mediated signal transduction  actin cytoskeleton  phosphatase regulator activity  phosphatase regulator activity  protein kinase binding  Z disc  regulation of cell adhesion  A band  regulation of myosin-light-chain-phosphatase activity  positive regulation of myosin-light-chain-phosphatase activity  negative regulation of catalytic activity  contractile fiber  positive regulation of transcription from RNA polymerase II promoter  regulation of nucleocytoplasmic transport  centrosome organization  14-3-3 protein binding  PTW/PP1 phosphatase complex  regulation of establishment of endothelial barrier  
Pathways : KEGGVascular smooth muscle contraction    Focal adhesion    Regulation of actin cytoskeleton    Proteoglycans in cancer   
Protein Interaction DatabasePPP1R12A
Atlas of Cancer Signalling NetworkPPP1R12A
Wikipedia pathwaysPPP1R12A
Orthology - Evolution
OrthoDB4659
GeneTree (enSembl)ENSG00000058272
Phylogenetic Trees/Animal Genes : TreeFamPPP1R12A
Homologs : HomoloGenePPP1R12A
Homology/Alignments : Family Browser (UCSC)PPP1R12A
Gene fusions - Rearrangements
Fusion: TCGAMLLT6 17q12 PPP1R12A 12q21.2 LGG
Fusion: TCGAPPP1R12A 12q21.2 MGAT4C 12q21.31 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPPP1R12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP1R12A
dbVarPPP1R12A
ClinVarPPP1R12A
1000_GenomesPPP1R12A 
Exome Variant ServerPPP1R12A
Exome Aggregation Consortium (ExAC)ENSG00000058272
SNP (GeneSNP Utah)PPP1R12A
SNP : HGBasePPP1R12A
Genetic variants : HAPMAPPPP1R12A
Genomic Variants (DGV)PPP1R12A [DGVbeta]
Mutations
ICGC Data PortalPPP1R12A 
TCGA Data PortalPPP1R12A 
Tumor PortalPPP1R12A
TCGA Copy Number PortalPPP1R12A
Somatic Mutations in Cancer : COSMICPPP1R12A 
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 PPP1R12A
DgiDB (Drug Gene Interaction Database)PPP1R12A
DoCM (Curated mutations)PPP1R12A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP1R12A (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:80167343-80329235
CONAN: Copy Number AnalysisPPP1R12A 
Mutations and Diseases : HGMDPPP1R12A
OMIM602021   
MedgenPPP1R12A
NextProtO14974 [Medical]
TSGene4659
GENETestsPPP1R12A
Huge Navigator PPP1R12A [HugePedia]  PPP1R12A [HugeCancerGEM]
snp3D : Map Gene to Disease4659
BioCentury BCIQPPP1R12A
General knowledge
Chemical/Protein Interactions : CTD4659
Chemical/Pharm GKB GenePA33617
Clinical trialPPP1R12A
Other databases
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP1R12A
GoPubMedPPP1R12A
iHOPPPP1R12A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 19:17:46 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.