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PPM1H (protein phosphatase, Mg2+/Mn2+ dependent 1H)

Identity

Alias_namesARHCL1
ras homolog gene family, member C like 1
protein phosphatase 1H (PP2C domain containing)
protein phosphatase, Mg2?? dependent, 1H
Alias_symbol (synonym)KIAA1157
FLJ13253
NERPP-2C
Other aliasURCC2
HGNC (Hugo) PPM1H
LocusID (NCBI) 57460
Atlas_Id 46687
Location 12q14.1  [Link to chromosome band 12q14]
Location_base_pair Starts at 62643984 and ends at 62934885 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EGFR (7p11.2) / PPM1H (12q14.1)MDM2 (12q15) / PPM1H (12q14.1)PPM1H (12q14.1) / C12orf56 (12q14.2)
PPM1H (12q14.1) / FAM19A2 (12q14.1)PPM1H (12q14.1) / FAM234B (12p13.1)PPM1H (12q14.1) / IL26 (12q15)
PPM1H (12q14.1) / ITCH (20q11.22)PPM1H (12q14.1) / KIF13B (8p12)PPM1H (12q14.1) / MDM2 (12q15)
PPM1H (12q14.1) / PPM1H (12q14.1)PPM1H (12q14.1) / RAP1B (12q15)PPM1H (12q14.1) / SLC6A15 (12q21.31)
PPM1H (12q14.1) / SRGAP1 (12q14.2)PPM1H (12q14.1) / SV2C (5q13.3)PPM1H (12q14.1) / USP15 (12q14.1)
PUM2 (2p24.1) / PPM1H (12q14.1)SRGAP1 (12q14.2) / PPM1H (12q14.1)TBC1D30 (12q14.3) / PPM1H (12q14.1)
EGFR 7p11.2 / PPM1H 12q14.1PPM1H 12q14.1 / C12orf56 12q14.2PPM1H 12q14.1 / FAM19A2 12q14.1
PPM1H 12q14.1 KIAA1467PPM1H 12q14.1 / KIF13B 8p12PPM1H 12q14.1 / SLC6A15 12q21.31
PPM1H 12q14.1 / SRGAP1 12q14.2PPM1H 12q14.1 / USP15 12q14.1TBC1D30 12q14.3 / PPM1H 12q14.1

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)PPM1H   18583
Cards
Entrez_Gene (NCBI)PPM1H  57460  protein phosphatase, Mg2+/Mn2+ dependent 1H
AliasesARHCL1; NERPP-2C; URCC2
GeneCards (Weizmann)PPM1H
Ensembl hg19 (Hinxton)ENSG00000111110 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111110 [Gene_View]  chr12:62643984-62934885 [Contig_View]  PPM1H [Vega]
ICGC DataPortalENSG00000111110
TCGA cBioPortalPPM1H
AceView (NCBI)PPM1H
Genatlas (Paris)PPM1H
WikiGenes57460
SOURCE (Princeton)PPM1H
Genetics Home Reference (NIH)PPM1H
Genomic and cartography
GoldenPath hg38 (UCSC)PPM1H  -     chr12:62643984-62934885 -  12q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPM1H  -     12q14.1   [Description]    (hg19-Feb_2009)
EnsemblPPM1H - 12q14.1 [CytoView hg19]  PPM1H - 12q14.1 [CytoView hg38]
Mapping of homologs : NCBIPPM1H [Mapview hg19]  PPM1H [Mapview hg38]
OMIM616016   
Gene and transcription
Genbank (Entrez)AB032983 AB084258 AK023315 AK024134 BC040177
RefSeq transcript (Entrez)NM_020700
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPM1H
Cluster EST : UnigeneHs.435479 [ NCBI ]
CGAP (NCI)Hs.435479
Alternative Splicing GalleryENSG00000111110
Gene ExpressionPPM1H [ NCBI-GEO ]   PPM1H [ EBI - ARRAY_EXPRESS ]   PPM1H [ SEEK ]   PPM1H [ MEM ]
Gene Expression Viewer (FireBrowse)PPM1H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57460
GTEX Portal (Tissue expression)PPM1H
Human Protein AtlasENSG00000111110-PPM1H [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULR3
Splice isoforms : SwissVarQ9ULR3
PhosPhoSitePlusQ9ULR3
Domaine pattern : Prosite (Expaxy)PPM_2 (PS51746)   
Domains : Interpro (EBI)PP2C    PPM-type_phosphatase_dom   
Domain families : Pfam (Sanger)PP2C (PF00481)   
Domain families : Pfam (NCBI)pfam00481   
Domain families : Smart (EMBL)PP2Cc (SM00332)  
Conserved Domain (NCBI)PPM1H
DMDM Disease mutations57460
Blocks (Seattle)PPM1H
SuperfamilyQ9ULR3
Human Protein Atlas [tissue]ENSG00000111110-PPM1H [tissue]
Peptide AtlasQ9ULR3
IPIIPI00736251   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULR3
IntAct (EBI)Q9ULR3
FunCoupENSG00000111110
BioGRIDPPM1H
STRING (EMBL)PPM1H
ZODIACPPM1H
Ontologies - Pathways
QuickGOQ9ULR3
Ontology : AmiGOphosphoprotein phosphatase activity  protein serine/threonine phosphatase activity  nucleus  nucleoplasm  cytoplasm  protein dephosphorylation  
Ontology : EGO-EBIphosphoprotein phosphatase activity  protein serine/threonine phosphatase activity  nucleus  nucleoplasm  cytoplasm  protein dephosphorylation  
NDEx NetworkPPM1H
Atlas of Cancer Signalling NetworkPPM1H
Wikipedia pathwaysPPM1H
Orthology - Evolution
OrthoDB57460
GeneTree (enSembl)ENSG00000111110
Phylogenetic Trees/Animal Genes : TreeFamPPM1H
HOVERGENQ9ULR3
HOGENOMQ9ULR3
Homologs : HomoloGenePPM1H
Homology/Alignments : Family Browser (UCSC)PPM1H
Gene fusions - Rearrangements
Fusion : MitelmanEGFR/PPM1H [7p11.2/12q14.1]  [t(7;12)(p11;q14)]  
Fusion : MitelmanMDM2/PPM1H [12q15/12q14.1]  [t(12;12)(q14;q15)]  
Fusion : MitelmanPPM1H/C12orf56 [12q14.1/12q14.2]  [t(12;12)(q14;q14)]  
Fusion : MitelmanPPM1H/FAM19A2 [12q14.1/12q14.1]  [t(12;12)(q14;q14)]  
Fusion : MitelmanPPM1H/IL26 [12q14.1/12q15]  [t(12;12)(q14;q15)]  
Fusion : MitelmanPPM1H/KIAA1467 [12q14.1/t(12;12)(p13;q14)]  
Fusion : MitelmanPPM1H/KIF13B [12q14.1/8p12]  [t(8;12)(p12;q14)]  
Fusion : MitelmanPPM1H/MDM2 [12q14.1/12q15]  [t(12;12)(q14;q15)]  
Fusion : MitelmanPPM1H/RAP1B [12q14.1/12q15]  [t(12;12)(q14;q15)]  
Fusion : MitelmanPPM1H/SLC6A15 [12q14.1/12q21.31]  [t(12;12)(q14;q21)]  
Fusion : MitelmanPPM1H/SRGAP1 [12q14.1/12q14.2]  [t(12;12)(q14;q14)]  
Fusion : MitelmanPPM1H/SV2C [12q14.1/5q13.3]  [t(5;12)(q13;q14)]  
Fusion : MitelmanPPM1H/USP15 [12q14.1/12q14.1]  [t(12;12)(q14;q14)]  
Fusion : MitelmanTBC1D30/PPM1H [12q14.3/12q14.1]  [t(12;12)(q14;q14)]  
Fusion: TCGA_MDACCEGFR 7p11.2 PPM1H 12q14.1 GBM
Fusion: TCGA_MDACCPPM1H 12q14.1 C12orf56 12q14.2 BRCA
Fusion: TCGA_MDACCPPM1H 12q14.1 FAM19A2 12q14.1 BRCA
Fusion: TCGA_MDACCPPM1H 12q14.1 KIAA1467 PRAD
Fusion: TCGA_MDACCPPM1H 12q14.1 KIF13B 8p12 PRAD
Fusion: TCGA_MDACCPPM1H 12q14.1 SLC6A15 12q21.31 BRCA
Fusion: TCGA_MDACCPPM1H 12q14.1 SRGAP1 12q14.2 BRCA
Fusion: TCGA_MDACCPPM1H 12q14.1 USP15 12q14.1 BRCA
Fusion: TCGA_MDACCTBC1D30 12q14.3 PPM1H 12q14.1 GBM
Tumor Fusion PortalPPM1H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPM1H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPM1H
dbVarPPM1H
ClinVarPPM1H
1000_GenomesPPM1H 
Exome Variant ServerPPM1H
ExAC (Exome Aggregation Consortium)ENSG00000111110
GNOMAD BrowserENSG00000111110
Genetic variants : HAPMAP57460
Genomic Variants (DGV)PPM1H [DGVbeta]
DECIPHERPPM1H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPM1H 
Mutations
ICGC Data PortalPPM1H 
TCGA Data PortalPPM1H 
Broad Tumor PortalPPM1H
OASIS PortalPPM1H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPM1H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPM1H
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PPM1H
DgiDB (Drug Gene Interaction Database)PPM1H
DoCM (Curated mutations)PPM1H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPM1H (select a term)
intoGenPPM1H
Cancer3DPPM1H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616016   
Orphanet
DisGeNETPPM1H
MedgenPPM1H
Genetic Testing Registry PPM1H
NextProtQ9ULR3 [Medical]
TSGene57460
GENETestsPPM1H
Target ValidationPPM1H
Huge Navigator PPM1H [HugePedia]
snp3D : Map Gene to Disease57460
BioCentury BCIQPPM1H
ClinGenPPM1H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57460
Chemical/Pharm GKB GenePA38354
Clinical trialPPM1H
Miscellaneous
canSAR (ICR)PPM1H (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPM1H
EVEXPPM1H
GoPubMedPPM1H
iHOPPPM1H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:29:51 CET 2017

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