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Gene

PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D

Summary

Cytogenetic location
17q23.3
Coordinates
Chromosome 17: 60,600,193–60,666,280 (GRCh38)
Exons
6 exons across 66.1 kb
Protein
605 amino acids
Also known as
Wip1, PP2C-DELTA
MANE Select transcript
ENST00000305921.8NM_003620.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How PPM1D is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where PPM1D sits. PPM1D and 5 genes near it on chromosome 17, from 60,133,237 to 61,133,236.Chromosome 1717q23.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.360.2 Mb60.4 Mb60.6 Mb60.8 Mb61 MbCA4: 60,147,838–60,178,085, forward strandCA4USP32: 60,177,184–60,422,470, reverse strandUSP32CHCT1: 60,392,429–60,431,426, forward strandCHCT1APPBP2: 60,443,158–60,526,242, reverse strandAPPBP2PPM1D: 60,600,193–60,666,280, forward strandPPM1DBCAS3: 60,677,453–61,392,838, forward strandBCAS3Diagram of PPM1D: 6 exons on the forward strand of chromosome 17Exon 5: 11 known disease-causing sitesExon 6: 28 known disease-causing sitesExon 1: 60,600,193–60,600,886, 694 basesExon 2: 60,623,521–60,623,749, 229 basesExon 3: 60,633,853–60,633,977, 125 basesExon 4: 60,647,892–60,648,082, 191 basesExon 5: 60,656,599–60,656,841, 243 basesExon 6: 60,662,995–60,666,280, 3,286 bases1234565′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.8 kb of the gene's 66.1 kb; 1,818 of those bases code for the protein.

    How a genome test reads PPM1D

    40

    positions in PPM1D where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 66.1 kb of PPM1D, introns included, not only the 4.8 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). PPM1D gene: protein phosphatase, Mg2+/Mn2+ dependent 1D. Retrieved 16 October 2026, from https://dantelabs.com/genes/ppm1d

    Vancouver

    Dante Labs. PPM1D gene: protein phosphatase, Mg2+/Mn2+ dependent 1D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ppm1d

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