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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP6R2
protein phosphatase 6 regulatory subunit 2
Chromosome 22 · 22q13.33
NCBI Gene: 9701Ensembl: ENSG00000100239.17HGNC: HGNC:19253UniProt: O75170
74PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein phosphatase regulator activityprotein bindingcytosolnucleusCharcot-Marie-Tooth disease type 4B3pyogenic granulomaprostate cancerFamilial prostate cancer
✦AI Summary

PPP6R2 is a regulatory subunit of protein phosphatase 6 (PP6) that functions as a scaffolding component of the PP6 holoenzyme complex. Mechanistically, PPP6R2 works redundantly with other PP6 regulatory subunits (PPP6R1 and PPP6R3) to promote RIPK1-dependent PANoptosis through dephosphorylation events that enhance pro-death S166 auto-phosphorylation of RIPK1 while reducing pro-survival S321 phosphorylation 1. The protein also participates in NF-κB regulation through PP6-mediated dephosphorylation of NFKBIE, opposing its degradation in TNF signaling [UniProt annotation supported by 24]. Disease relevance is emerging across multiple conditions: PPP6R2 was identified as a novel risk locus in multi-ancestry genome-wide association studies of Parkinson's disease 3, with variants detected in prodromal PD patients 4. Additionally, PPP6R2 shows altered expression in ophthalmoplegic myasthenia gravis 5 and developmental dysplasia of the hip 6. Obesity-associated DNA methylation changes at PPP6R2 may contribute to systemic inflammation in children 7. PPP6R2 also interacts with CC2D1A in hippocampal synapses, suggesting roles in synaptic function 8, and acts as an antiadhesive factor in colon cancer-endothelial interactions 9.

Sources cited
1
PPP6R2 is a regulatory subunit of PP6 with redundant roles in promoting RIPK1-dependent PANoptosis through modulation of RIPK1 phosphorylation
PMID: 38807188
2
PPP6R2 identified as one of 12 potentially novel Parkinson's disease risk loci in multi-ancestry meta-analysis of 49,049 cases and 2,458,063 controls
PMID: 38155330
3
PPP6R2 variant detected in prodromal stage Parkinson's disease patients as potential genetic biomarker for early diagnosis
PMID: 38732343
4
Obesity-associated DNA methylation increase at PPP6R2 locus in children may contribute to NF-κB regulation and systemic inflammation
PMID: 35589784
5
PPP6R2 shows altered expression in ophthalmoplegic myasthenia gravis subphenotype-specific myocyte cultures
PMID: 30696470
6
PPP6R2 identified with shared damaging variants across multiple families with developmental dysplasia of the hip
PMID: 36454308
7
PPP6R2 identified as high-confidence interactor of CC2D1A in mouse hippocampus with role in synaptic function
PMID: 40667103
8
PPP6R2 acts as antiadhesive factor in colon cancer cell adhesion to liver sinusoidal endothelial cells
PMID: 23629598
Disease Associationsⓘ20
Charcot-Marie-Tooth disease type 4B3Open Targets
0.33Weak
pyogenic granulomaOpen Targets
0.22Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.07Suggestive
liver diseaseOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
developmental dysplasia of the hipOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Mungan syndromeOpen Targets
0.01Suggestive
cardiovascular diseaseOpen Targets
0.01Suggestive
cold-induced sweating syndromeOpen Targets
0.00Suggestive
deliriumOpen Targets
0.00Suggestive
dementiaOpen Targets
0.00Suggestive
Genital neoplasm, femaleOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
systemic inflammatory response syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HPCAL1Shared pathway100%VSNL1Shared pathway100%LRRIQ1Shared pathway100%DBNDD1Shared pathway100%AFAP1Shared pathway100%NCOA5Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
48%
Ovary
45%
Heart
35%
Bone Marrow
32%
Brain
21%
Gene Interaction Network
Click a node to explore
PPP6R2HPCAL1VSNL1LRRIQ1DBNDD1AFAP1NCOA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75170
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.54–0.82]
RankingsWhere PPP6R2 stands among ~20K protein-coding genes
  • #6,422of 20,598
    Most Researched74
  • #6,940of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedPPP6R2
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
PMID: 38155330
Nat Genet · 2024
1.00
2
Effect of excess weight and insulin resistance on DNA methylation in prepubertal children.
PMID: 35589784
Sci Rep · 2022
0.88
3
The protein phosphatase PP6 promotes RIPK1-dependent PANoptosis.
PMID: 38807188
BMC Biol · 2024
0.75
4
Novel Variants Linked to the Prodromal Stage of Parkinson's Disease (PD) Patients.
PMID: 38732343
Diagnostics (Basel) · 2024
0.63
5
Interactome Analysis of the CC2D1A Scaffold Reveals Novel Neuronal Interactions and a Postsynaptic Role.
PMID: 40667103
bioRxiv · 2025
0.50