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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPP1R2
protein phosphatase 1 regulatory inhibitor subunit 2
Chromosome 3 · 3q29
NCBI Gene: 5504Ensembl: ENSG00000184203.9HGNC: HGNC:9288UniProt: P41236
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmolecular function inhibitor activityprotein phosphatase inhibitor activityintracellular signal transductionneurodegenerative diseaseneuroinflammatory disorderattention deficit hyperactivity disorderaortic stenosis
✦AI Summary

PPP1R2 (protein phosphatase 1 regulatory inhibitor subunit 2) is a regulatory protein that modulates protein phosphatase 1 (PP1) function through multiple mechanisms. Previously characterized as an inhibitor of PP1 1, recent evidence demonstrates that PPP1R2 actually stabilizes specific PP1 holoenzymes by disrupting inhibitory interactions between PP1's C-terminal tail and catalytic domain, thereby promoting substrate dephosphorylation 2. PPP1R2 also functions as a metal chaperone, facilitating incorporation of zinc into PP1's active site, though it requires co-chaperones for complete metal loading 3. PPP1R2 is particularly enriched in testis and plays critical roles in sperm function. Two isoforms exist in spermatozoa, localized to head and tail structures, with phosphorylation-dependent dynamic binding to PP1γ2 during epididymal sperm maturation 1 4. This dynamic association regulates sperm motility and hyperactivation 1. PPP1R2 also localizes to condensed chr3 during oocyte meiosis, where its phosphorylation is regulated by glycogen synthase kinase 3 and coordinates with PP1 to regulate histone H3 phosphorylation and proper chr3 condensation 5. Recently, PPP1R2 variants have been identified in rare Mendelian genetic diseases, establishing novel disease associations 6. PPP1R2 interacts with multiple proteins including NEK2 and may contribute to hepatocellular carcinoma pathogenesis 7.

Sources cited
1
PPP1R2 is present in sperm as two isoforms (PPP1R2 and PPP1R2P3), both with PP1 inhibitory activity, localized to sperm head and tail structures; role in sperm motility, acrosome reaction, and hyperactivation
PMID: 23506001
2
PPP1R2 stabilizes PP1 holoenzymes by disrupting inhibitory PP1 intramolecular interactions and promoting substrate dephosphorylation, functioning as an activator rather than simple inhibitor
PMID: 39537675
3
PPP1R2 functions as a metal chaperone for PP1, binding zinc and facilitating (though not directly transferring) zinc incorporation into PP1's active site
PMID: 39245796
4
PPP1R2 is highly expressed in testis and spermatogenic cells, localizes with PP1γ2 in sperm, and its binding to PP1γ2 changes dynamically during epididymal maturation through phosphorylation-dependent mechanisms regulating sperm motility
PMID: 30144392
5
PPP1R2 localizes to condensed chromatin during oocyte meiosis with phosphorylation regulated by GSK3, functioning with PP1 to control histone H3 phosphorylation and chromatin condensation
PMID: 17182892
6
PPP1R2 variants are associated with novel Mendelian disease phenotypes identified through RNA-seq analysis
PMID: 40597352
7
PPP1R2 is identified as an interacting protein of NEK2 in hepatocellular carcinoma pathogenesis
PMID: 33109182
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
neuroinflammatory disorderOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
aortic stenosisOpen Targets
0.04Suggestive
Miyoshi myopathyOpen Targets
0.03Suggestive
urinary bladder carcinomaOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
hyperphosphatemiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
childhood leukemiaOpen Targets
0.01Suggestive
demyelinating diseaseOpen Targets
0.01Suggestive
hematopoietic and lymphoid cell neoplasmOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
polycythemiaOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
WAGR syndromeOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP2CAProtein interaction94%PPP1R1AProtein interaction89%LMTK2Protein interaction82%PPP1CAProtein interaction82%PPP1CBProtein interaction82%PPP1CCProtein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
87%
Heart
60%
Lung
46%
Ovary
31%
Liver
20%
Gene Interaction Network
Click a node to explore
PPP1R2PPP2CAPPP1R1ALMTK2PPP1CAPPP1CBPPP1CC
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P41236
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.46–1.09]
RankingsWhere PPP1R2 stands among ~20K protein-coding genes
  • #6,356of 20,598
    Most Researched75
  • #11,125of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedPPP1R2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of two distinct PPP1R2 isoforms in human spermatozoa.
PMID: 23506001
BMC Cell Biol · 2013
1.00
2
PPP1R2 stimulates protein phosphatase-1 through stabilisation of dynamic subunit interactions.
PMID: 39537675
Nat Commun · 2024
0.90
3
Spontaneous and chaperone-assisted metal loading in the active site of protein phosphatase-1.
PMID: 39245796
FEBS Lett · 2024
0.80
4
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
PMID: 40597352
Genome Med · 2025
0.70
5
Proper chromatin condensation and maintenance of histone H3 phosphorylation during mouse oocyte meiosis requires protein phosphatase activity.
PMID: 17182892
Biol Reprod · 2007
0.60