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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPP2CA
protein phosphatase 2 catalytic subunit alpha
Chromosome 5 · 5q31.1
NCBI Gene: 5515Ensembl: ENSG00000113575.13HGNC: HGNC:9299UniProt: B3KQ51
518PubMed Papers
21Diseases
1Drugs
42Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionphosphoprotein phosphatase activityprotein serine/threonine phosphatase activityprotein tyrosine phosphatase activityHouge-Janssens syndrome 3neurodegenerative diseasecancerGlobal developmental delay
✦AI Summary

PPP2CA encodes the catalytic α-subunit of protein phosphatase 2A (PP2A), a major serine/threonine phosphatase that regulates diverse cellular processes through substrate dephosphorylation 1. As the catalytic component of PP2A holoenzyme complexes, PPP2CA functions within various regulatory complexes including STRIPAK and INTAC complexes to control multiple signaling pathways including PIK3CA/AKT/mTOR, RAS/MAPK, Wnt, and Hippo signaling 12. The enzyme dephosphorylates numerous substrates involved in cell cycle regulation, transcriptional control, and metabolic processes 34. PPP2CA plays critical roles in tumor suppression by regulating immune signaling pathways, including cGAS-STING-type I interferon signaling in glioblastoma 5. Loss-of-function mutations in PPP2CA cause Houge-Janssens syndrome type 3, characterized by neurodevelopmental delay, hypotonia, seizures, and behavioral problems due to PP2A dysfunction and altered growth-promoting kinase activity 1. The protein is also implicated in cardiovascular disease progression through extracellular vesicle-mediated signaling 2 and cancer metabolic reprogramming via lactate-driven pathways 3. PPP2CA represents a potential therapeutic target, as compounds like triptolide can modulate its activity to suppress tumor progression 3.

Sources cited
1
PPP2CA mutations cause Houge-Janssens syndrome type 3 with neurodevelopmental features due to PP2A dysfunction affecting growth-promoting kinase pathways
PMID: 40555839
2
PPP2CA deficiency enhances glioblastoma immunogenicity by activating cGAS-STING-type I interferon signaling
PMID: 37219874
3
PPP2CA is involved in cardiovascular disease through tissue extracellular vesicle signaling and calcification processes
PMID: 37427430
4
PPP2CA contains human-specific conserved deletions that may affect brain development and regulatory function
PMID: 37104592
5
PPP2CA dysregulation promotes ovarian cancer progression through lactate-driven metabolic reprogramming and ITGA5 axis, targetable by triptolide
PMID: 40770810
Disease Associationsⓘ21
Houge-Janssens syndrome 3Open Targets
0.81Strong
neurodegenerative diseaseOpen Targets
0.54Moderate
cancerOpen Targets
0.53Moderate
Global developmental delayOpen Targets
0.46Moderate
SeizureOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.46Moderate
Feeding difficultiesOpen Targets
0.46Moderate
HypotoniaOpen Targets
0.46Moderate
language impairmentOpen Targets
0.46Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
chronic myelogenous leukemiaOpen Targets
0.37Weak
genetic disorderOpen Targets
0.32Weak
neuroinflammatory disorderOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
glaucomaOpen Targets
0.25Weak
gastric carcinomaOpen Targets
0.20Weak
neuroblastomaOpen Targets
0.16Weak
Houge-Janssens syndrome 3UniProt
Pathogenic Variants42
NM_002715.4(PPP2CA):c.46C>T (p.Gln16Ter)Pathogenic
Houge-Janssens syndrome 3|not provided
★★☆☆2025→ Residue 16
NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys)Likely pathogenic
Houge-Janssens syndrome 3|not provided
★★☆☆2024→ Residue 127
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg)Pathogenic
Houge-Janssens syndrome 3|not provided
★★☆☆2024→ Residue 191
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His)Pathogenic
Houge-Janssens syndrome 3|not provided
★★☆☆2022→ Residue 223
NM_002715.4(PPP2CA):c.366G>C (p.Gln122His)Likely pathogenic
Houge-Janssens syndrome 3
★★☆☆2019→ Residue 122
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly)Pathogenic
Houge-Janssens syndrome 3
★★☆☆2019→ Residue 88
NM_002715.4(PPP2CA):c.313-2A>TLikely pathogenic
not provided
★☆☆☆2026
NM_002715.4(PPP2CA):c.486+1G>ALikely pathogenic
not provided
★☆☆☆2025
NM_002715.4(PPP2CA):c.374_375insGA (p.Val126fs)Pathogenic
not provided
★☆☆☆2025→ Residue 126
NM_002715.4(PPP2CA):c.729dup (p.Val244fs)Likely pathogenic
Houge-Janssens syndrome 3
★☆☆☆2025→ Residue 244
NM_002715.4(PPP2CA):c.373del (p.Gln125fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 125
NM_002715.4(PPP2CA):c.814C>T (p.Gln272Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 272
NM_002715.4(PPP2CA):c.852C>G (p.Tyr284Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 284
NM_002715.4(PPP2CA):c.796T>C (p.Cys266Arg)Likely pathogenic
PPP2CA-related disorder
★☆☆☆2023→ Residue 266
NM_002715.4(PPP2CA):c.3G>A (p.Met1Ile)Pathogenic
not provided
★☆☆☆2023→ Residue 1
NM_002715.4(PPP2CA):c.272ATT[1] (p.Tyr92del)Likely pathogenic
not provided
★☆☆☆2023→ Residue 92
NM_002715.4(PPP2CA):c.841_842insAA (p.Thr281fs)Pathogenic
not provided
★☆☆☆2022→ Residue 281
NM_002715.4(PPP2CA):c.164G>T (p.Cys55Phe)Likely pathogenic
not provided
★☆☆☆2022→ Residue 55
NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp)Likely pathogenic
Inborn genetic diseases
★☆☆☆2022→ Residue 271
NM_002715.4(PPP2CA):c.696_697insA (p.Gly233fs)Likely pathogenic
Houge-Janssens syndrome 3
★☆☆☆2022→ Residue 233
View on ClinVar ↗
Drug Targets1
LB-100Phase II
Serine/threonine-protein phosphatase 5 inhibitor
astrocytoma
Related Genes
DRD2Protein interaction100%ENSAProtein interaction100%MID1Protein interaction100%PPP1R1AProtein interaction100%CCT4Protein interaction100%ANAPC4Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
99%
Heart
87%
Lung
33%
Liver
32%
Ovary
24%
Gene Interaction Network
Click a node to explore
PPP2CADRD2ENSAMID1PPP1R1ACCT4ANAPC4
PROTEIN STRUCTURE
Preparing viewer…
PDB4NY3 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.32Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.08–0.32]
RankingsWhere PPP2CA stands among ~20K protein-coding genes
  • #505of 20,598
    Most Researched518 · top 5%
  • #1,481of 5,498
    Most Pathogenic Variants42
  • #1,253of 17,882
    Most Constrained (LOEUF)0.32 · top 10%
Genes detectedPPP2CA
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Houge-Janssens syndrome.
PMID: 40555839
Eur J Hum Genet · 2025
1.00
2
PP2Ac Deficiency Enhances Tumor Immunogenicity by Activating STING-Type I Interferon Signaling in Glioblastoma.
PMID: 37219874
Cancer Res · 2023
0.90
3
E3 ligase MKRN2 destabilizes PPP2CA proteins to inactivate canonical Wnt pathway and mitigates tumorigenesis of clear cell renal cell carcinoma.
PMID: 40959281
Int J Biol Sci · 2025
0.80
4
Multiomics of Tissue Extracellular Vesicles Identifies Unique Modulators of Atherosclerosis and Calcific Aortic Valve Stenosis.
PMID: 37427430
Circulation · 2023
0.80
5
The functional and evolutionary impacts of human-specific deletions in conserved elements.
PMID: 37104592
Science · 2023
0.70