Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8493
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase, Mg2+/Mn2+ dependent 1D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPM1D
Synonyms (NCBI Gene) Gene synonyms aliases
IDDGIP, JDVS, PP2C-DELTA, WIP1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs189669693 T>A,C Pathogenic Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs747947002 AA>-,A,AAA Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs763475304 A>-,AA Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs765769406 C>T Pathogenic, uncertain-significance Coding sequence variant, stop gained, non coding transcript variant
rs766524048 T>C,G Likely-pathogenic Coding sequence variant, stop gained, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005360 hsa-miR-16-5p Northern blot, qRT-PCR, Western blot 20668064
MIRT004044 hsa-miR-29a-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21175813
MIRT005682 hsa-miR-153-3p Immunoblot 20668064
MIRT005682 hsa-miR-153-3p Luciferase reporter assay 20668064
MIRT005683 hsa-miR-145-5p Immunoblot, Luciferase reporter assay 20668064
Transcription factors
Transcription factor Regulation Reference
CREB1 Unknown 19015127
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0004674 Function Protein serine/threonine kinase activity TAS
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 20801214
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605100 9277 ENSG00000170836
Protein
UniProt ID O15297
Protein name Protein phosphatase 1D (EC 3.1.3.16) (Protein phosphatase 2C isoform delta) (PP2C-delta) (Protein phosphatase magnesium-dependent 1 delta) (p53-induced protein phosphatase 1)
Protein 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 t
PDB 8T2J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00481 PP2C 65 368 Protein phosphatase 2C Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal and adult brain. Also detected in fetal liver and skeletal muscle, but not in their adult counterparts. {ECO:0000269|PubMed:28343630}.
Sequence
MAGLYSLGVSVFSDQGGRKYMEDVTQIVVEPEPTAEEKPSPRRSLSQPLPPRPSPAALPG
GEVSGKGPAVAAREARDPLPDAGASPAPSRCCRRRSSVAFFAVCDGHGGREAAQFAREHL
WGFIKKQKGFTSSEPAKVCAAIRKGFLACHLAMWKKLAEWPKTMTGLPSTSGTTASVVII
RGMKMYVAHVGDSGVVLGIQDDPKDDFVRAVEVTQDHKPELPKERERIEGLGGSVMNKSG
VNRVVWKRPRLTHNGPVRRSTVIDQIPFLAVARALGDLWSYDFFSGEFVVSPEPDTSVHT
LDPQKHKYIILGSDGLWNMIPPQDAISMCQDQEEKKYLMGEHGQSCAKMLVNRALGRWRQ
RMLRADNT
SAIVICISPEVDNQGNFTNEDELYLNLTDSPSYNSQETCVMTPSPCSTPPVK
SLEEDPWPRVNSKDHIPALVRSNAFSENFLEVSAEIARENVQGVVIPSKDPEPLEENCAK
ALTLRIHDSLNNSLPIGLVPTNSTNTVMDQKNLKMSTPGQMKAQEIERTPPTNFKRTLEE
SNSGPLMKKHRRNGLSRSSGAQPASLPTTSQRKNSVKLTMRRRLRGQKKIGNPLLHQHRK
TVCVC
Sequence length 605
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  p53 signaling pathway   Transcriptional regulation by RUNX2
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Carcinoma hereditary breast carcinoma N/A N/A GenCC
Gout Gout N/A N/A GWAS
lung carcinoma Lung carcinoma N/A N/A ClinVar
Mental retardation syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21281403, 23111975
Aneurysm Associate 39382597
Ascites Inhibit 35538489
Breast Neoplasms Associate 16352595, 16966377, 19242108, 19435816, 20543821, 23242139, 23556002, 23649806, 26225652, 26847329, 26883108, 27485113, 29275106, 29328395, 31242196
View all (3 more)
Breast Neoplasms Stimulate 27619510
Carcinogenesis Associate 23907125, 25412952, 37067201
Carcinoma Hepatocellular Associate 11768609, 23556002, 34470916
Carcinoma Non Small Cell Lung Associate 24272082, 27959454
Carcinoma Non Small Cell Lung Stimulate 25412952
Carcinoma Papillary Associate 24970693, 25060857