Gene: PPM1D
Alternate names for this Gene: IDDGIP|JDVS|PP2C-DELTA|WIP1
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q23.2
Description of this Gene: protein phosphatase, Mg2+/Mn2+ dependent 1D
Type of Gene: protein-coding
rs7214509 in
PPM1D gene and
Blood urea nitrogen measurement
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
rs1555648564 in
PPM1D gene and
Dysmorphic features
PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
rs1555648564 in
PPM1D gene and
Multiple congenital anomalies
PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
rs747947002 in
PPM1D gene and
Muscle hypotonia
PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.