PPM1D Chromosome 17
Protein phosphatase, Mg2+/Mn2+ dependent 1D
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What This Gene Does
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]
Gene Info
Gene Group
Protein phosphatases, Mg2+/Mn2+ dependent
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000170836
Associated Conditions (10)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Inborn genetic diseases
PPM1D-related disorder
Familial cancer of breast
Lung carcinoma
Medulloblastoma WNT activated
See cases
Ovarian cancer
Neurodevelopmental delay
Autosomal dominant non-syndromic intellectual disability
Key Variants
RS1001134677
Conflicting classifications of pathogenicity
Health Risk
RS1163049039
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
RS1254993767
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
RS1382039751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146477590
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, PPM1D-related disorder, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
RS1487466505
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2544440342
Conflicting classifications of pathogenicity
Health Risk
RS373862041
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
RS61756416
Conflicting classifications of pathogenicity
Familial cancer of breast, PPM1D-related disorder, Familial cancer of breast
Health Risk
RS759850701
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765769406
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
RS773389405
Conflicting classifications of pathogenicity
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2031551741 | Health Risk | Pathogenic | — |
| RS2031551825 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS2031551927 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS2031555258 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS2143730785 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2143731129 | Health Risk | Pathogenic | Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability |
| RS2544465676 | Health Risk | Pathogenic | Familial cancer of breast, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast |
| RS2544469783 | Health Risk | Pathogenic | — |
| RS2544470298 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS747947002 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Inborn genetic diseases, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS763475304 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS765655972 | Health Risk | Pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS766524048 | Health Risk | Pathogenic | — |
| RS768126695 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Inborn genetic diseases |
| RS1064797098 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS1555649009 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Inborn genetic diseases, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS189669693 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |