PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D

Gene ID: 8493, updated on 14-Nov-2024
Gene type: protein coding
Also known as: JDVS; WIP1; IDDGIP; PP2C-DELTA

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MedGen: C4479517OMIM: 617450GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 17q23.2

Sequence:: Chromosome: 17; NC_000017.11 (60600193..60666280)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PPM1D variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PPM1D database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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