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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 negati... See more...
Aliases for PPM1D Gene
Aliases for PPM1D Gene
- Protein Phosphatase, Mg2+/Mn2+ Dependent 1D 2 3 5
- Protein Phosphatase 1D Magnesium-Dependent, Delta Isoform 2 3
- Wild-Type P53-Induced Phosphatase 1 2 3
- Protein Phosphatase 1D 3 4
- PP2C-DELTA 2 3
- WIP1 3 4
- Protein Phosphatase Magnesium-Dependent 1 Delta 4
- Protein Phosphatase, Mg2+/Mn2+ Dependent, 1D 2
- Protein Phosphatase 2C, Delta Isoform 2
External Ids for PPM1D Gene
- HGNC: 9277
- Entrez Gene: 8493
- Ensembl: ENSG00000170836
- OMIM: 605100
- UniProtKB: O15297
Previous GeneCards Identifiers for PPM1D Gene
- GC17P058414
- GC17P061129
- GC17P059019
- GC17P059151
- GC17P056032
- GC17P058677
- GC17P054048
Summaries 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 Jansen-De Vries Syndrome and Breast Cancer. Among its related pathways are ATM Signaling Network in Development and Disease and Development Dopamine D2 receptor transactivation of EGFR. Gene Ontology (GO) annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1E.
UniProtKB/Swiss-Prot Summary for PPM1D Gene
-
Involved in the negative regulation of p53 expression (PubMed:23242139). 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 (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity).
Additional gene information for PPM1D Gene
- HGNC(9277)
- Entrez Gene(8493)
- Ensembl(ENSG00000170836)
- OMIM(605100)
- UniProtKB(O15297)
- Open Targets Platform(ENSG00000170836)
- Monarch Initiative
- Search for PPM1D at DataMed
- Search for PPM1D at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPM1D Gene
Genomics for PPM1D Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPM1D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPM1D on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPM1D
- Top Transcription factor binding sites by QIAGEN in the PPM1D gene promoter:
-
- ATF
- CUTL1
- Egr-2
- FOXD1
- FOXO4
- HEN1
- Meis-1
- Meis-1a
- Meis-1b
- Nkx6-1
Genomic Locations for PPM1D Gene
Genomic Locations for PPM1D Gene
- chr17:60,600,183-60,666,280
- (GRCh38/hg38)
- Size:
- 66,098 bases
- Orientation:
- Plus strand
- chr17:58,677,544-58,743,641
- (GRCh37/hg19)
- Size:
- 66,098 bases
- Orientation:
- Plus strand
Genomic View for PPM1D Gene
Genes around PPM1D on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.3 by HGNC
- 17q23.2 by Entrez Gene
- 17q23.2 by Ensembl
PPM1D Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPM1D Gene
Proteins for PPM1D Gene
-
Protein details for PPM1D Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15297-PPM1D_HUMAN
- Recommended name:
- Protein phosphatase 1D
- Protein Accession:
- O15297
- Q53XP4
- Q6P991
- Q8IVR6
Protein attributes for PPM1D Gene
- Size:
- 605 amino acids
- Molecular mass:
- 66675 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Interacts with CHEK1 and CHEK2; dephosphorylates them. Interacts with MAPK14 (PubMed:21283629).
Protein Expression for PPM1D Gene
Post-translational modifications for PPM1D Gene
Other Protein References for PPM1D Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PPM1D
-
Abcam antibodies for PPM1D
- Invitrogen Antibodies for PPM1D (AFLGC-PPM1D)
-
Custom Antibody ServicesProSci Antibodies for PPM1D
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPM1D
- Sino Biological Antibodies for PPM1D
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PPM1D
- Origene Custom Protein Services for PPM1D
- Novus Biologicals proteins for PPM1D
- ProSpec Recombinant Proteins for PPM1D
-
Signalway Proteins for PPM1D
-
Abcam proteins for PPM1D
No data available for DME Specific Peptides for PPM1D Gene
Domains & Families for PPM1D Gene
Gene Families for PPM1D Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PPM1D Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PPM1D Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52238, highly similar to Protein phosphatase 2C isoform delta (EC 3.1.3.16) (B4DSJ4_HUMAN)
- p53-induced protein phosphatase 1 (PPM1D_HUMAN)
- Protein phosphatase 1D magnesium-dependent, delta isoform (Q6P991_HUMAN)
- Protein phosphatase 1D magnesium-dependent, delta isoform (Q8NEA7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15297- Family:
-
- Belongs to the PP2C family.
Function for PPM1D Gene
Molecular function for PPM1D Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the negative regulation of p53 expression (PubMed:23242139). 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 (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.
- UniProtKB/Swiss-Prot Induction:
- By p53/TP53.
Enzyme Numbers (IUBMB) for PPM1D Gene
Phenotypes From GWAS Catalog for PPM1D Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | TAS | -- |
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0004722 | protein serine/threonine phosphatase activity | IDA | 20801214 |
| GO:0004724 | magnesium-dependent protein serine/threonine phosphatase activity | IBA | -- |
Phenotypes for PPM1D Gene
- MGI mutant phenotypes for PPM1D:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPM1D:
-
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased shRNA abundance (Z-score > 2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased transferrin (TF) endocytosis
- Decreased viability in esophageal squamous lineage
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased shRNA abundance (Z-score < -2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased cell migration
- Decreased viability with paclitaxel
- Condensed cis-Golgi, condensed medial Golgi, condensed trans-Golgi
Animal Models for PPM1D Gene
- MGI Knock Outs for PPM1D:
-
- Ppm1d Ppm1d<tm1Lad>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPM1D - Select products 50% OFF >
- * PPM1D CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPM1D
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPM1D
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPM1D
miRNA for PPM1D Gene
- miRTarBase miRNAs that target PPM1D
-
- hsa-miR-29a-3p (MIRT004044)
- hsa-miR-16-5p (MIRT005360)
- hsa-miR-153-3p (MIRT005682)
- hsa-miR-145-5p (MIRT005683)
- hsa-miR-203a-3p (MIRT005684)
- hsa-miR-217 (MIRT005685)
- mmu-miR-301b-3p (MIRT008005)
- hsa-miR-26b-5p (MIRT028938)
- hsa-miR-29c-3p (MIRT044244)
- hsa-miR-450a-1-3p (MIRT078311)
- hsa-miR-15b-5p (MIRT197720)
- hsa-miR-6513-5p (MIRT637662)
- hsa-miR-887-5p (MIRT637663)
- hsa-miR-3913-5p (MIRT637664)
- hsa-miR-3122 (MIRT637665)
- hsa-miR-6780a-5p (MIRT637666)
- hsa-miR-6779-5p (MIRT637667)
- hsa-miR-3689c (MIRT637668)
- hsa-miR-3689b-3p (MIRT637669)
- hsa-miR-3689a-3p (MIRT637670)
- hsa-miR-30b-3p (MIRT637671)
- hsa-miR-1273h-5p (MIRT637672)
- hsa-miR-6788-5p (MIRT637673)
- hsa-miR-30c-2-3p (MIRT637674)
- hsa-miR-30c-1-3p (MIRT637675)
- hsa-miR-7977 (MIRT637676)
- hsa-miR-6799-5p (MIRT637677)
- hsa-miR-6883-5p (MIRT637678)
- hsa-miR-4728-5p (MIRT637679)
- hsa-miR-6785-5p (MIRT637680)
- hsa-miR-7106-5p (MIRT637681)
- hsa-miR-149-3p (MIRT637682)
- hsa-miR-138-5p (MIRT637683)
- hsa-miR-3135a (MIRT637684)
- hsa-miR-342-3p (MIRT637685)
- hsa-miR-645 (MIRT637686)
- hsa-miR-383-3p (MIRT637687)
- hsa-miR-1228-3p (MIRT637688)
- hsa-miR-4478 (MIRT637689)
- hsa-miR-4419b (MIRT637690)
- hsa-miR-3929 (MIRT637691)
- hsa-miR-24-3p (MIRT673629)
- hsa-miR-4284 (MIRT673630)
- hsa-miR-4746-3p (MIRT673631)
- hsa-miR-770-5p (MIRT673632)
- hsa-miR-4712-5p (MIRT673633)
- hsa-miR-4687-5p (MIRT746996)
- hsa-miR-593-5p (MIRT751596)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPM1D
- Browse OriGene Inhibitory RNA Products For PPM1D
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1D
Clone Products
- Applied Biological Materials (abm): Clones for PPM1D - Select products 50% OFF >
- * PPM1D as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PPM1D
- Addgene plasmids for PPM1D
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPM1D
Cell Line Products
-
Horizon Cell Lines for PPM1D
No data available for Transcription Factor Targets and HOMER Transcription for PPM1D Gene
Localization for PPM1D Gene
Subcellular locations from UniProtKB/Swiss-Prot for PPM1D Gene
- Nucleus. Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IDA | 28343630 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA,IDA | 28343630 |
Pathways & Interactions for PPM1D Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage | ||
| 2 | DNA Damage Response | ||
| 3 | Development Dopamine D2 receptor transactivation of EGFR |
Apoptosis and survival BAD phosphorylation
.41
|
|
| 4 | Regulation of CFTR activity (norm and CF) |
Regulation of CFTR activity (norm and CF)
.38
|
|
| 5 | ATM Signaling Network in Development and Disease | ||
Pathways by source for PPM1D Gene
2 BioSystems pathways for PPM1D Gene
1 KEGG pathway for PPM1D Gene
2 GeneGo (Thomson Reuters) pathways for PPM1D Gene
- Apoptosis and survival BAD phosphorylation
- Regulation of CFTR activity (norm and CF)
1 Cell Signaling Technology pathway for PPM1D Gene
Interacting Proteins for PPM1D Gene
Selected Interacting proteins:
O15297-PPM1D_HUMAN
ENSP00000306682
for PPM1D Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PPM1D
SIGNOR curated interactions for PPM1D Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | IEA | -- |
| GO:0006306 | DNA methylation | ISS | -- |
| GO:0006342 | chromatin silencing | ISS | -- |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0006468 | protein phosphorylation | IEA | -- |
Drugs & Compounds for PPM1D Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
(2) ApexBio Compounds for PPM1D Gene
| Compound | Action | Cas Number |
|---|---|---|
| CCT007093 | PPM1D inhibitor | 176957-55-4 |
| GSK 2830371 | 1404456-53-6 |
Transcripts for PPM1D Gene
mRNA/cDNA for PPM1D Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000305921 4768 nts (view in UCSC)
- ENST00000392995 2996 nts (view in UCSC)
- ENST00000590418 489 nts (view in UCSC)
- ENST00000629650 1525 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPM1D - Select products 50% OFF >
- * PPM1D CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPM1D
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPM1D
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPM1D
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPM1D
- Browse OriGene Inhibitory RNA Products For PPM1D
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1D
Clone Products
- Applied Biological Materials (abm): Clones for PPM1D - Select products 50% OFF >
- * PPM1D as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PPM1D
- Addgene plasmids for PPM1D
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPM1D
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: |
Relevant External Links for PPM1D Gene
- GeneLoc Exon Structure for
- PPM1D
Expression for PPM1D Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Platelet (55.0) and Placenta (14.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPM1D Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPM1D
SOURCE GeneReport for Unigene cluster for PPM1D Gene:
Hs.286073mRNA Expression by UniProt/SwissProt for PPM1D Gene:
O15297-PPM1D_HUMAN
Tissue specificity:
Expressed in fetal and adult brain. Also detected in fetal liver and skeletal muscle, but not in their adult counterparts.
Evidence on tissue expression from TISSUES for PPM1D Gene
- Nervous system(4.7)
- Skin(4.4)
- Blood(2.3)
- Intestine(2.3)
- Liver(2.3)
- Kidney(2.1)
- Lung(2.1)
- Bone marrow(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PPM1D Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- reproductive
- skeletal muscle
Regions:
Thorax:
- breast
Primer Products
-
OriGene qPCR primer pairs for PPM1D
-
OriGene qPCR primer pairs and template standards for PPM1D
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for PPM1D Gene
Orthologs for PPM1D Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPM1D 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PPM1D 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PPM1D 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ppm1d 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ppm1d 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PPM1D 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PPM1D 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PPM1D 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PPM1D 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppm1d 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | ppm1d-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ppm1da 30 31 |
|
OneToMany | |
| ppm1db 31 |
|
OneToMany | |||
| zgc55836 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pp2C1 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y54F10BM.1 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PTC4 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6123 30 |
|
- Species where no ortholog for PPM1D was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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 PPM1D Gene
- ENSEMBL:
- Gene Tree for PPM1D (if available)
- TreeFam:
- Gene Tree for PPM1D (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPM1D: view image
Paralogs for PPM1D Gene
Variants for PPM1D Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPM1D Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638685 | Pathogenic: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 60,656,838(+) | C/CA | FRAMESHIFT_VARIANT | |
| 695318 | Benign: not provided | 60,663,235(+) | A/G | MISSENSE_VARIANT | |
| 695348 | Likely Benign: not provided | 60,600,853(+) | C/G | MISSENSE_VARIANT | |
| 695416 | Benign: not provided | 60,600,658(+) | G/T | MISSENSE_VARIANT | |
| 695774 | Benign: not provided | 60,600,671(+) | C/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3410224 | CNV | insertion | 20981092 |
| esv3640930 | CNV | loss | 21293372 |
| nsv1061134 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.26;
40.64% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPM1D Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPM1D Gene
Disorders for PPM1D Gene
(8) MalaCards diseases for PPM1D Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| jansen-de vries syndrome |
|
|
| breast cancer |
|
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| medulloblastoma |
|
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| ovarian cancer |
|
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| brain stem cancer |
|
|
Search PPM1D in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PPM1D_HUMAN- Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP) [MIM:617450]: An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. {ECO:0000269 PubMed:28343630}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:23242139}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
- Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269 PubMed:23242139}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Additional Disease Information for PPM1D
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PPM1D Gene
Publications for PPM1D Gene
- Regulation of the antioncogenic Chk2 kinase by the oncogenic Wip1 phosphatase. (PMID: 16311512) Fujimoto H … Minami Y (Cell death and differentiation 2006) 3 4 23
- PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints. (PMID: 15870257) Lu X … Donehower LA (Genes & development 2005) 3 4 23
- Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner. (PMID: 9177166) Fiscella M … Appella E (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4
- De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. (PMID: 28343630) Jansen S … de Vries BB (American journal of human genetics 2017) 3 4
- Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. (PMID: 23242139) Ruark E … Rahman N (Nature 2013) 3 4
ExternalLinks
Products for PPM1D Gene
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- Signalway Proteins for PPM1D
Sources for PPM1D Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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