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GeneE
25 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.
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha
Chromosome 19 Β· 19q13.41
NCBI Gene: 5518Ensembl: ENSG00000105568.19HGNC: HGNC:9302UniProt: A8K7B7
429PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphoprotein phosphatase activityprotein bindingprotein phosphatase regulator activityprotein heterodimerization activityHouge-Janssens syndrome 2Intellectual disabilityneurodegenerative diseasecancer
✦AI Summary

PPP2R1A encodes the PR65 scaffolding subunit of protein phosphatase 2A (PP2A), which coordinates assembly of the catalytic subunit with variable regulatory B subunits to form functional PP2A complexes 1. As a critical component of PP2A, PPP2R1A opposes serine/threonine protein kinases, including growth-promoting kinases in the PIK3CA/AKT/mTOR and RAS/MAPK pathways 1. The protein functions in multiple cellular processes including chromosome 19, transcriptional regulation as part of the Integrator-PP2A complex, and participation in STRIPAK complexes that regulate various signaling pathways 1. PPP2R1A mutations are associated with Houge-Janssens syndrome type 2, characterized by neurodevelopmental delay, hypotonia, seizures, and behavioral problems 1. Cancer-associated mutations, particularly the recurrent p.R183 hotspot mutation, occur in endometrial cancers and ovarian clear cell carcinomas 2 3. These mutations can occur in benign endometriotic lesions without malignant transformation 4. Importantly, PPP2R1A mutations enhance sensitivity to immunotherapy and ATR inhibitors, suggesting potential therapeutic targets 5 3. The mutations appear to disrupt normal PP2A function, leading to altered cellular signaling and therapeutic vulnerabilities.

Sources cited
1
PPP2R1A encodes scaffolding subunit of PP2A and causes Houge-Janssens syndrome type 2
PMID: 40555839
2
PPP2R1A mutations occur in clear cell carcinoma
PMID: 24992974
3
PPP2R1A p.R183 mutations enhance ATR inhibitor sensitivity
PMID: 39939726
4
PPP2R1A mutations improve survival after cancer immunotherapy
PMID: 40604275
5
PPP2R1A mutations found in benign endometriotic lesions
PMID: 28489996
Disease Associationsβ“˜21
Houge-Janssens syndrome 2Open Targets
0.79Strong
Intellectual disabilityOpen Targets
0.61Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
cancerOpen Targets
0.54Moderate
endometrial cancerOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.50Moderate
Uterine CarcinosarcomaOpen Targets
0.46Moderate
colorectal adenocarcinomaOpen Targets
0.40Moderate
lung carcinomaOpen Targets
0.39Weak
Endometrial Serous AdenocarcinomaOpen Targets
0.37Weak
chronic myelogenous leukemiaOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
Endometrial Clear Cell AdenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
endometrial mixed adenocarcinomaOpen Targets
0.37Weak
endometrium adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Houge-Janssens syndrome 2UniProt
Pathogenic Variants20
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)Pathogenic
not provided|Houge-Janssens syndrome 2|Intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)Pathogenic
Houge-Janssens syndrome 2|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 182
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)Pathogenic
Houge-Janssens syndrome 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 258
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)Pathogenic
Inborn genetic diseases|Houge-Janssens syndrome 2|not provided|PPP2R1A-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 219
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)Pathogenic
Houge-Janssens syndrome 2|not provided|Colon adenocarcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)Pathogenic
Houge-Janssens syndrome 2|not provided|PPP2R1A-related neurodevelopmental disorders|Inborn genetic diseases|PPP2R1A-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 179
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)Likely pathogenic
Inborn genetic diseases|Houge-Janssens syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_014225.6(PPP2R1A):c.658G>A (p.Val220Met)Pathogenic
not provided|Houge-Janssens syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 220
NM_014225.6(PPP2R1A):c.545G>A (p.Arg182Gln)Pathogenic
not provided|Houge-Janssens syndrome 2
β˜…β˜…β˜†β˜†2024β†’ Residue 182
NM_014225.6(PPP2R1A):c.536C>A (p.Pro179His)Pathogenic
Houge-Janssens syndrome 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 179
NM_014225.6(PPP2R1A):c.538A>G (p.Met180Val)Pathogenic
not provided|Houge-Janssens syndrome 2
β˜…β˜…β˜†β˜†2024β†’ Residue 180
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)Pathogenic
PPP2R1A-related disorder|not provided|Houge-Janssens syndrome 2
β˜…β˜…β˜†β˜†2023β†’ Residue 180
NM_014225.6(PPP2R1A):c.533C>A (p.Thr178Asn)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 178
NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)Likely pathogenic
Houge-Janssens syndrome 2|Neoplasm
β˜…β˜†β˜†β˜†2024β†’ Residue 134
NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)Likely pathogenic
Houge-Janssens syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 178
NM_014225.6(PPP2R1A):c.843dup (p.Asp282fs)Pathogenic
Houge-Janssens syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 282
NM_014225.6(PPP2R1A):c.1493G>T (p.Arg498Leu)Likely pathogenic
Houge-Janssens syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 498
NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 180
NM_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2021β†’ Residue 174
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)Likely pathogenic
Houge-Janssens syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 32
View on ClinVar β†—
Related Genes
DRD2Protein interaction100%IRAK1Protein interaction100%PPP1R1AProtein interaction100%INTS8Protein interaction100%PPP2R5BProtein interaction100%PPP3CCProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
55%
Brain
53%
Lung
38%
Liver
29%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
PPP2R1ADRD2IRAK1PPP1R1AINTS8PPP2R5BPPP3CC
PROTEIN STRUCTURE
Preparing viewer…
PDB1B3U Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.22 [0.15–0.34]
RankingsWhere PPP2R1A stands among ~20K protein-coding genes
  • #653of 20,598
    Most Researched429 Β· top 5%
  • #2,174of 5,498
    Most Pathogenic Variants20
  • #1,500of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedPPP2R1A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients.
PMID: 30078747
Cancer Cell Β· 2018
1.00
2
Large-scale discovery of novel genetic causes of developmental disorders.
PMID: 25533962
Nature Β· 2015
0.90
3
PPP2R1A mutations portend improved survival after cancer immunotherapy.
PMID: 40604275
Nature Β· 2025
0.80
4
Houge-Janssens syndrome.
PMID: 40555839
Eur J Hum Genet Β· 2025
0.70
5
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
PMID: 39978342
Am J Hum Genet Β· 2025
0.68