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PPM1D Gene

protein-coding   GIFtS: 63
GCID: GC17P058677

Protein Phosphatase, Mg2+/Mn2+ Dependent, 1D

(Previous names: protein phosphatase 1D magnesium-dependent, delta isoform)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Phosphatase, Mg2+/Mn2+ Dependent, 1D1 2     Protein Phosphatase 2C Delta Isoform2
WIP12 3 5     Protein Phosphatase Wip12
Protein Phosphatase 1D Magnesium-Dependent, Delta Isoform1 2     EC 3.1.3.163
Wild-Type P53-Induced Phosphatase 11 2     PP2C-delta3
Delta Isoform1     P53-Induced Protein Phosphatase 13
Protein Phosphatase 2C1     Protein Phosphatase 2C Isoform Delta3
PP2C-DELTA2     Protein Phosphatase Magnesium-Dependent 1 Delta3
Protein Phosphatase 1D2     

External Ids:    HGNC: 92771   Entrez Gene: 84932   Ensembl: ENSG000001708367   OMIM: 6051005   UniProtKB: O152973   

Export aliases for PPM1D gene to outside databases

Previous GC identifers: GC17P058414 GC17P061129 GC17P059019 GC17P059151 GC17P056032 GC17P054048


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PPM1D Gene:
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family
members are known to be negative regulators of cell stress response pathways. The expression of this gene is
induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor
suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38,
through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and
apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth
inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to
be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line
and primary breast tumors, which suggests a role of this gene in cancer development. (provided by RefSeq, Jul
2008)

GeneCards Summary for PPM1D Gene:
PPM1D (protein phosphatase, Mg2+/Mn2+ dependent, 1D) is a protein-coding gene. Diseases associated with PPM1D include breast cancer, and brca1 and brca2 hereditary breast and ovarian cancer. GO annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1G.

UniProtKB/Swiss-Prot: PPM1D_HUMAN, O15297
Function: Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and
dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of
these proteins

Gene Wiki entry for PPM1D Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPM1D gene promoter:
         FOXD1   CUTL1   Meis-1b   Egr-2   HEN1   Nkx6-1   FOXO4   Meis-1a   ATF   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPM1D promoter sequence
   Search Chromatin IP Primers for PPM1D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPM1D


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23.2   Ensembl cytogenetic band:  17q23.2   HGNC cytogenetic band: 17q23.3

PPM1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPM1D gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P058677:  view genomic region     (about GC identifiers)

Start:
58,677,544 bp from pter      End:
58,743,641 bp from pter
Size:
66,098 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PPM1D_HUMAN, O15297 (See protein sequence)
Recommended Name: Protein phosphatase 1D  
Size: 605 amino acids; 66675 Da
Cofactor: Binds 2 magnesium or manganese ions per subunit (By similarity)
Subunit: Interacts with CHEK1 and CHEK2; dephosphorylates them
Secondary accessions: Q53XP4 Q6P991

Explore the universe of human proteins at neXtProt for PPM1D: NX_O15297

Explore proteomics data for PPM1D at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys238
  • Modification sites at PhosphoSitePlus

  • See PPM1D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003611.1  
    ENSEMBL proteins: 
     ENSP00000306682   ENSP00000376720   ENSP00000465168  

    PPM1D Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPM: Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent

    3 InterPro protein domains:
     IPR001932 PP2C-like_dom
     IPR000222 PP2C_Mn2_Asp60_BS
     IPR015655 Protein_Pase_2C

    Graphical View of Domain Structure for InterPro Entry O15297

    ProtoNet protein and cluster: O15297

    UniProtKB/Swiss-Prot: PPM1D_HUMAN, O15297
    Similarity: Belongs to the PP2C family
    Similarity: Contains 1 PP2C-like domain


    PPM1D for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPM1D_HUMAN, O15297
    Function: Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and
    dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of
    these proteins
    Catalytic activity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate
    Induction: By p53/TP53

         Enzyme Number (IUBMB): EC 3.1.3.161

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004722protein serine/threonine phosphatase activity IDA--
    GO:0005515protein binding IPI17936559
    GO:0046872metal ion binding IEA--
         
    PPM1D for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PPM1D:
     Decreased viability with pacli  Increased cell death in breast 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ppm1d):
     cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  reproductive system  tumorigenesis 

    PPM1D for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ppm1dtm1Lad for PPM1D

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PPM1D
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPM1D

    miRNA
    Products:
        
    miRTarBase miRNAs that target PPM1D:
    hsa-mir-145-5p (MIRT005683), hsa-mir-16-5p (MIRT005360), hsa-mir-217 (MIRT005685), hsa-mir-203a (MIRT005684), hsa-mir-26b-5p (MIRT028938), hsa-mir-29a-3p (MIRT004044), hsa-mir-29c-3p (MIRT044244), hsa-mir-153-3p (MIRT005682)

    Block miRNA regulation of human, mouse, rat PPM1D using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPM1D (see all 75):
    hsa-miR-361-5p hsa-miR-300 hsa-miR-15a hsa-miR-3653 hsa-miR-4275 hsa-miR-208b hsa-miR-376a* hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPPM1D 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PPM1D
    Predesigned siRNA for gene silencing in human, mouse, rat PPM1D

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PPM1D (NM_003620)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPM1D


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9177166

    PPM1D for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PPM1D About    
    See pathways by source

    SuperPathContained pathways About
    1Development Dopamine D2 receptor transactivation of EGFR
    Apoptosis and survival BAD phosphorylation0.41
    2p53 signaling pathway
    p53 signaling pathway0.41
    3Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    4Cell Cycle / Checkpoint Control
    DNA Damage0.32
    5p53 pathway
    p53 pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PPM1D
        DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for PPM1D
        Apoptosis and survival BAD phosphorylation
    Regulation of CFTR activity (norm and CF)

    1 BioSystems Pathway for PPM1D
        p53 pathway


    1 Kegg Pathway  (Kegg details for PPM1D):
        p53 signaling pathway


    PPM1D for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPM1D: 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              p53 Signaling Pathway in human mouse rat
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PPM1D

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PPM1D (O152971, 2, 3 ENSP000003066824) via UniProtKB, MINT, STRING, and/or I2D (see all 639)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H2AFXP161041, 2, 3, ENSP000003643104EBI-1551512,EBI-494830 MINT-8291621 MINT-8291572 MINT-8291642 MINT-8291601 MINT-8291635 MINT-8291610 I2D: score=2 STRING: ENSP00000364310
    MDM2Q009871, 3, ENSP000004172814EBI-1551512,EBI-389668 I2D: score=3 STRING: ENSP00000417281
    CDC5LQ994592, 3, ENSP000003605324MINT-7947479 I2D: score=1 STRING: ENSP00000360532
    NCLP193383, ENSP000003181954I2D: score=2 STRING: ENSP00000318195
    RPL5P467773, ENSP000003593454I2D: score=2 STRING: ENSP00000359345
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle IEA--
    GO:0006470protein dephosphorylation TAS9177166
    GO:0008285negative regulation of cell proliferation TAS9177166
    GO:0009314response to radiation TAS9177166
    GO:0009617response to bacterium IEA--

    PPM1D for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PPM1D

    5 HMDB Compounds for PPM1D    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for PPM1D gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 61.7 16 15807522 (2), 11101524 (1), 15327777 (1), 16652371 (1) (see all 9)
    serine 44.1 12 15327777 (1), 16652371 (1), 18265945 (1), 16897432 (1) (see all 7)



    PPM1D for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PPM1D gene: 
    NM_003620.3  

    Unigene Cluster for PPM1D:

    Protein phosphatase, Mg2+/Mn2+ dependent, 1D
    Hs.286073  [show with all ESTs]
    Unigene Representative Sequence: NM_003620
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305921(uc002iyt.2 uc010ddm.2) ENST00000392995 ENST00000590418

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    Selected qRT-PCR Assays for microRNAs that regulate PPM1D (see all 75):
    hsa-miR-361-5p hsa-miR-300 hsa-miR-15a hsa-miR-3653 hsa-miR-4275 hsa-miR-208b hsa-miR-376a* hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPPM1D 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: PPM1D (NM_003620)
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      QuantiTect SYBR Green Assays in human, mouse, rat PPM1D
      QuantiFast Probe-based Assays in human, mouse, rat PPM1D

    Additional mRNA sequence: 

    AK054573.1 AK312902.1 BC016480.1 BC032826.1 BC033893.2 BC060877.1 BT009780.1 U78305.1 

    4 DOTS entries:

    DT.456381  DT.109318  DT.100766065  DT.100766068 

    Selected AceView cDNA sequences (see all 75):

    BX107623 AI275159 AA412202 BF432098 BQ019149 BQ900713 AA609470 CA428967 
    BU616782 CD367090 CA449682 AI024631 BF910408 BQ010896 CK823233 AW025045 
    CD365828 BU189763 AA722551 BM974101 BE046472 BU521853 AA399213 BX104973 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PPM1D    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:              -                                         -               
    SP2:              -                                   -     -               
    SP3:                                                  -                     
    SP4:                                                                        


    ECgene alternative splicing isoforms for PPM1D

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PPM1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PPM1D Expression
    About this image


    PPM1D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Ovary (Reproductive System)
    PPM1D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPM1D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.286073
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPM1D: 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              p53 Signaling Pathway in human mouse rat
              Protein Phosphatases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PPM1D
    OriGene qSTAR qPCR primer pairs in human, mouse for PPM1D
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PPM1D
    QuantiTect SYBR Green Assays in human, mouse, rat PPM1D
    QuantiFast Probe-based Assays in human, mouse, rat PPM1D
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPM1D

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PPM1D gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppm1d1 , 5 protein phosphatase 1D magnesium-dependent, delta isoform1, 5 87.19(n)1
    89.93(a)1
      11 (51.34 cM)5
    538921  NM_016910.31  NP_058606.31 
     853112445 
    chicken
    (Gallus gallus)
    Aves PPM1D1 protein phosphatase, Mg2+/Mn2+ dependent, 1D 72.71(n)
    75.96(a)
      417644  XM_415890.3  XP_415890.3 
    lizard
    (Anolis carolinensis)
    Reptilia PPM1D6
    protein phosphatase, Mg2+/Mn2+ dependent, 1D
    69(a)
    1 ↔ 1
    GL343393.1(518416-534089)
    African clawed frog
    (Xenopus laevis)
    Amphibia ppm1d-prov2 protein phosphatase 1D magnesium-dependent, delta isoform 74.23(n)    BC044985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558362 similar to protein phosphatase 1D magnesium-dependent, more 76.41(n)   394065  BC045471.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pp2C13 protein amino acid dephosphorylation
    protein serine/threonine more
    47(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y54F10BM.13   -- 38(a)   III(2403398-2416069)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PTC46
    Cytoplasmic type 2C protein phosphatase (PP2C); id...
    16(a)
    1 → many
    II(487199-488380) YBR125C


    ENSEMBL Gene Tree for PPM1D (if available)
    TreeFam Gene Tree for PPM1D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPM1D gene
    PPM1G2  

    PPM1D for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PPM1D (see all 1239)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349322831,2
    C--58680141(+) GCTTG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs556773541,2
    C--58680158(+) AAAAAC/AAAAGT 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs581248611,2
    C--58681125(+) AAAAA-/AGACAG 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs1834685291,2
    C--58691249(+) ACCTGA/TGGCCC 1 -- int10--------
    rs1132078051,2
    C--58691523(+) CAATCA/GGCACT 1 -- int10--------
    rs795315391,2
    C,F--58691558(+) ACACGC/TCAGTC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs129416251,2
    C--58699365(+) aacacG/Agtgaa 1 -- int11Minor allele frequency- A:0.50NA 2
    rs744763421,2
    C,F--58710507(+) CAGGCA/GTGGTA 1 -- int13Minor allele frequency- G:0.16WA CSA 122
    rs797837361,2
    F--58718811(+) AACTTG/CTTGAA 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1135584941,2
    F--58720156(+) GGCACA/GGTGGC 1 -- int11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for PPM1D (58677544 - 58743641 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PPM1D: --
    Human Gene Mutation Database (HGMD): PPM1D
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPM1D
    DNA2.0 Custom Variant and Variant Library Synthesis for PPM1D

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605100   
    OMIM disorders: 114480  
    11 diseases for PPM1D:    
    About MalaCards
    breast cancer    brca1 and brca2 hereditary breast and ovarian cancer    brca2 hereditary breast and ovarian cancer    hereditary breast ovarian cancer
    medulloblastoma    lung adenocarcinoma    astrocytoma    neuroblastoma
    ovarian cancer    adenocarcinoma    hepatocellular carcinoma


    PPM1D for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PPM1D gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    medulloblastoma 51.7 6 17932621 (3), 16314645 (2)
    tumors 29.5 17 12702577 (2), 17932621 (2), 20093361 (1), 16314645 (1) (see all 11)
    breast cancer 27.4 17 16897432 (3), 17977650 (3), 16352595 (2), 12755490 (1) (see all 6)
    cancer 18.9 14 18265945 (2), 17073441 (1), 19015127 (1), 17977650 (1) (see all 6)

    Genetic Association Database (GAD): PPM1D
    Human Genome Epidemiology (HuGE) Navigator: PPM1D (1 document)

    Export disorders for PPM1D gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PPM1D gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with PPM1D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner. (PubMed id 9177166)1, 2, 3 Fiscella M.... Appella E. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints. (PubMed id 15870257)1, 2, 9 Lu X.... Donehower L.A. (Genes Dev. 2005)
    3. Regulation of the antioncogenic Chk2 kinase by the oncogenic Wip1 phosphatase. (PubMed id 16311512)1, 2, 9 Fujimoto H.... Minami Y. (Cell Death Differ. 2006)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Intrinsic kinase activity and SQ/TQ domain of Chk2 kinase as well as N-terminal domain of Wip1 phosphatase are required for regulation of Chk2 by Wip1. (PubMed id 16798742)1, 9 Yoda A....Minami Y. (J. Biol. Chem. 2006)
    7. Expression of a homeostatic regulator, Wip1 (wild-type p53-induced phosphatase), is temporally induced by c-Jun and p53 in response to UV irradiation. (PubMed id 20093361)1, 9 Song J.Y....Choi J. (J. Biol. Chem. 2010)
    8. The estrogen receptor alpha pathway induces oncogenic Wip1 phosphatase gene expression. (PubMed id 19435816)1, 9 Han H.S....Choi J. (Mol. Cancer Res. 2009)
    9. Induction of PPM1D following DNA-damaging treatments through a conserved p53 response element coincides with a shift in the use of transcription initiation sites. (PubMed id 19015127)1, 9 Rossi M....Mazur S.J. (Nucleic Acids Res. 2008)
    10. Characterization of the active site and a unique uncompetitive inhibitor of the PPM1-type protein phosphatase PPM1D. (PubMed id 18991770)1, 9 Chuman Y....Sakaguchi K. (Protein Pept. Lett. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8493 HGNC: 9277 AceView: PPM1D Ensembl:ENSG00000170836 euGenes: HUgn8493
    ECgene: PPM1D Kegg: 8493 H-InvDB: PPM1D

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PPM1D Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PPM1D Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PPM1D gene:
    Search GeneIP for patents involving PPM1D

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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