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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
Chromosome 5 · 5q32
NCBI Gene: 5521Ensembl: ENSG00000156475.20HGNC: HGNC:9305UniProt: Q00005
130PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein phosphatase regulator activitycytosolmitochondrionspinocerebellar ataxia type 12neurodegenerative diseaseschizophreniarheumatic disease
✦AI Summary

PPP2R2B encodes the Bβ regulatory subunit of protein phosphatase 2A (PP2A), a major serine/threonine phosphatase involved in cell growth control 1. As a regulatory subunit, PPP2R2B modulates PP2A substrate selectivity, catalytic activity, and subcellular localization 1. The protein functions as a tumor suppressor, with reduced expression promoting bladder cancer cell proliferation, migration, and cisplatin resistance 2. PPP2R2B also serves as a nucleocytoplasmic transport molecule, facilitating ISG15 nuclear translocation by mediating ISG15 binding to importin IPO5, which subsequently inhibits DNA repair and activates the STING pathway 2. The gene is critically associated with spinocerebellar ataxia type 12 (SCA12), caused by CAG repeat expansion in PPP2R2B exon 7 1. Normal individuals have 7-28 CAG repeats, while SCA12 patients have 55-78 repeats, leading to increased Bβ expression and bidirectional transcription producing toxic antisense transcripts 3. The expanded repeats show somatic instability across brain regions, with the cerebellum displaying the least instability 4. Genetic variants in PPP2R2B also associate with breast cancer risk and Alzheimer's disease susceptibility 56. Additionally, de novo mutations in PPP2R2B have been identified in patients with intellectual disability 7.

Sources cited
1
PPP2R2B encodes Bβ regulatory subunit of PP2A and is associated with SCA12 via CAG repeat expansion
PMID: 21827912
2
PPP2R2B functions as tumor suppressor and nucleocytoplasmic transport molecule regulating ISG15
PMID: 38976080
3
CAG expansion leads to bidirectional transcription and toxic antisense transcripts
PMID: 37735923
4
Expanded repeats show somatic instability across brain regions
PMID: 40075006
5
Genetic variants associate with breast cancer risk and prognosis
PMID: 20669227
6
CAG repeat variations associate with Alzheimer's disease susceptibility
PMID: 21029765
7
De novo mutations identified in intellectual disability patients
PMID: 25356899
Disease Associationsⓘ21
spinocerebellar ataxia type 12Open Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
schizophreniaOpen Targets
0.37Weak
rheumatic diseaseOpen Targets
0.33Weak
sialadenitisOpen Targets
0.30Weak
premature birthOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.28Weak
digestive system neoplasmOpen Targets
0.28Weak
jaw diseaseOpen Targets
0.27Weak
disorder of earOpen Targets
0.24Weak
neuroinflammatory disorderOpen Targets
0.22Weak
cervical carcinomaOpen Targets
0.22Weak
frozen shoulderOpen Targets
0.20Weak
ocular hypotensionOpen Targets
0.19Weak
bronchial diseaseOpen Targets
0.17Weak
tooth diseaseOpen Targets
0.17Weak
Global developmental delayOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.08Suggestive
Spinocerebellar ataxia 12UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IRAK1Protein interaction100%ATRProtein interaction95%RELAProtein interaction94%FXNProtein interaction92%NFKB1Protein interaction92%STK3Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
15%
Heart
5%
Liver
1%
Lung
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
PPP2R2BIRAK1ATRRELAFXNNFKB1STK3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q00005
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.17]
RankingsWhere PPP2R2B stands among ~20K protein-coding genes
  • #3,605of 20,598
    Most Researched130 · top quartile
  • #306of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedPPP2R2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
De novo mutations in moderate or severe intellectual disability.
PMID: 25356899
PLoS Genet · 2014
1.00
2
Nuclear translocation of ISG15 regulated by PPP2R2B inhibits cisplatin resistance of bladder cancer.
PMID: 38976080
Cell Mol Life Sci · 2024
0.90
3
Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.
PMID: 37735923
Mov Disord · 2023
0.80
4
Bidirectional transcription at the
PMID: 37066173
bioRxiv · 2023
0.70
5
Spinocerebellar ataxia type 12.
PMID: 21827912
Handb Clin Neurol · 2012
0.60