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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PP2D1
protein phosphatase 2C like domain containing 1
Chromosome 3 Β· 3p24.3
NCBI Gene: 151649Ensembl: ENSG00000183977.14HGNC: HGNC:28406UniProt: A8MPX8
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein serine/threonine phosphatase activitysignal transductionnegative regulation of MAPK cascadenucleuscervical carcinomahypertensionosteoporosispostinflammatory pulmonary fibrosis
✦AI Summary

Based on limited published evidence, PP2D1 is a metal-dependent serine/threonine protein phosphatase belonging to the PP2C (PPM) phosphatase family 1. The protein contains a conserved catalytic core domain that binds manganese/magnesium ions and exhibits protein serine/threonine phosphatase activity. GO annotations indicate PP2D1 localizes to the cytoplasm and nucleus, where it participates in signal transduction and negative regulation of the MAPK cascade. PP2D1 is expressed in male reproductive tissues; however, CRISPR/Cas9 knockout studies demonstrate it is individually dispensable for male mouse fertility 2.

Sources cited
1
PP2D1 is a member of the mammalian PPM/PP2C phosphatase family with a conserved metal-chelating catalytic core domain involved in diverse cellular functions
PMID: 32650009
2
PP2D1 is expressed in male reproductive tissues (testis) but is individually dispensable for male mouse fertility based on CRISPR/Cas9 knockout analysis
PMID: 32814578
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
cervical carcinomaOpen Targets
0.24Weak
hypertensionOpen Targets
0.06Suggestive
osteoporosisOpen Targets
0.04Suggestive
postinflammatory pulmonary fibrosisOpen Targets
0.04Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
polyarteritis nodosaOpen Targets
0.03Suggestive
lower extremity fractureOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
systemic inflammatory response syndromeOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.03Suggestive
type 1 diabetes nephropathyOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
thyroiditisOpen Targets
0.02Suggestive
insomniaOpen Targets
0.02Suggestive
clavicle fractureOpen Targets
0.02Suggestive
shoulder fractureOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
macular degenerationOpen Targets
0.02Suggestive
duodenal ulcerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PEBP1Shared pathway100%STYXL2Shared pathway100%DUSP16Shared pathway50%PRDM15Shared pathway33%PPEF2Shared pathway25%DUSP26Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
35%
Lung
12%
Liver
8%
Ovary
8%
Heart
3%
Gene Interaction Network
Click a node to explore
PP2D1PEBP1STYXL2DUSP16PRDM15PPEF2DUSP26
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A8MPX8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.62–1.22]
RankingsWhere PP2D1 stands among ~20K protein-coding genes
  • #18,182of 20,598
    Most Researched6
  • #12,787of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedPP2D1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Metal-dependent Ser/Thr protein phosphatase PPM family: Evolution, structures, diseases and inhibitors.
PMID: 32650009
Pharmacol Ther Β· 2020
1.00
2
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets.
PMID: 32814578
BMC Biol Β· 2020
0.50