HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPM1N
protein phosphatase, Mg2+/Mn2+ dependent 1N (putative)
Chromosome 19 · 19q13.32
NCBI Gene: 147699Ensembl: ENSG00000213889.12HGNC: HGNC:26845UniProt: Q8N819
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolregulation of canonical NF-kappaB signal transductionpositive regulation of canonical Wnt signaling pathwaynucleusSpastic paraplegiahereditary spastic paraplegia 12Autosomal dominant spastic paraplegia type 12neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
✦AI Summary

PPM1N is a metal-dependent serine/threonine protein phosphatase belonging to the PP2C phosphatase family, which comprises 20 mammalian isoforms 1. As a member of the PPM family, PPM1N contains a conserved catalytic core that binds manganese/magnesium ions (Mn2+/Mg2+) and functions as a single-subunit enzyme 1. PPM1N is classified within the PPM1A/PPM1B/PPM1N phylogenetic class and possesses isoform-specific regions that likely contribute to substrate recognition and functional regulation 1. At the molecular level, PPM1N regulates canonical Wnt/β-catenin and NF-κB signaling pathways 2. The gene is involved in controlling diverse cellular functions including cell cycle regulation, differentiation, immune responses, and metabolism 1. PPM1N has been identified as a novel eye gene involved in visual functions in mice 3. In reproductive biology, PPM1N expression is modulated in the endometrium during estrous cycles and hormonal treatments, influencing embryo development through Wnt/β-catenin signaling 2. Clinical significance of PPM1N extends to cancer detection; it serves as a hypermethylated biomarker in urothelial cancer, with methylation analysis of PPM1N contributing to a diagnostic model achieving 94.44% sensitivity and 93.52% specificity for non-invasive UC detection 4. Dysregulation of PPM1N, like other PPM phosphatases, may contribute to various human diseases through abnormal cellular responses 1.

Sources cited
1
PPM1N is a member of the 20 mammalian PP2C phosphatases with metal-chelating catalytic cores; involved in cell cycle control, differentiation, immune responses, and metabolism; mutations/overexpression cause human diseases
PMID: 32650009
2
PPM1N is a novel eye gene involved in mouse visual functions, identified through integrated transcriptome-phenome analysis
PMID: 31934309
3
PPM1N is differentially expressed in porcine endometrium and involved in Wnt/β-catenin signaling pathway regulation affecting embryo viability
PMID: 36169657
4
PPM1N methylation serves as a hypermethylated biomarker for non-invasive urothelial cancer detection with 94.44% sensitivity and 93.52% specificity
PMID: 40234942
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Spastic paraplegiaOpen Targets
0.53Moderate
hereditary spastic paraplegia 12Open Targets
0.51Moderate
Autosomal dominant spastic paraplegia type 12Open Targets
0.49Moderate
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticityOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.18Weak
respiratory system diseaseOpen Targets
0.07Suggestive
Mayer-Rokitansky-Kuster-Hauser syndromeOpen Targets
0.03Suggestive
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
0.03Suggestive
Mayer-Rokitansky-Kuster-Hauser syndrome type 1Open Targets
0.03Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.03Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.03Suggestive
caudal duplicationOpen Targets
0.03Suggestive
gastric ulcerOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
hemorrhageOpen Targets
0.02Suggestive
lower urinary tract calculusOpen Targets
0.02Suggestive
autosomal dominant complex spastic paraplegiaOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM198Shared pathway50%LYPD6Shared pathway50%JRKShared pathway50%WDR20Shared pathway33%TBL1XR1Shared pathway33%LRRK1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
66%
Liver
40%
Brain
33%
Ovary
32%
Heart
30%
Gene Interaction Network
Click a node to explore
PPM1NTMEM198LYPD6JRKWDR20TBL1XR1LRRK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N819
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.55 [1.17–1.91]
RankingsWhere PPM1N stands among ~20K protein-coding genes
  • #17,927of 20,598
    Most Researched7
  • #17,351of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedPPM1N
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Metal-dependent Ser/Thr protein phosphatase PPM family: Evolution, structures, diseases and inhibitors.
PMID: 32650009
Pharmacol Ther · 2020
1.00
2
Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome.
PMID: 31934309
Comput Struct Biotechnol J · 2020
0.75
3
Combined synchronization and superovulation treatments negatively impact embryo viability possibly by the downregulation of WNT/β-catenin and Notch signaling genes in the porcine endometrium.
PMID: 36169657
J Anim Sci · 2022
0.50
4
A diagnostic model for non-invasive urothelial cancer early detection based on methylation of urinary tumor DNA.
PMID: 40234942
Cancer Cell Int · 2025
0.25