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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PTPA
protein phosphatase 2 phosphatase activator
Chromosome 9 · 9q34.11
NCBI Gene: 5524Ensembl: ENSG00000119383.21HGNC: HGNC:9308UniProt: F6WIT2
280PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein phosphatase type 2A complexcalcium channel complexsignaling receptor bindingprotein bindingParkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentatopic eczemahypersomniaIntellectual disability
✦AI Summary

PTPA (protein phosphatase 2 phosphatase activator) is a regulatory subunit that modulates the activity of protein phosphatase 2A (PP2A), a major serine/threonine phosphatase in the brain 1. PTPA functions as a peptidyl-prolyl cis-trans isomerase that catalyzes proline isomerization and acts as a conformational regulator of the PP2A catalytic subunit, reversibly stimulating phosphotyrosyl phosphatase activity in an ATP and Mg2+-dependent manner 2. PTPA can reactivate inactive PP2A complexes and also promotes apoptosis through mechanisms independent of PP2A function 3. Clinically, biallelic PTPA variants cause autosomal recessive early-onset parkinsonism with intellectual disability 1. Identified mutations (p.Ala171Asp and p.Met298Arg) reduce PTPA RNA and protein stability, leading to decreased PP2A complex levels and impaired phosphatase activation 1. PTPA knock-down in Drosophila neurons impairs locomotion in an age-dependent manner, fully reversed by L-DOPA treatment, suggesting a role in dopaminergic pathways 1. Beyond neurological disease, PTPA variants associate with altered metabolic homeostasis, with genetic associations identified between PTPA variants and succinylcarnitine levels in aging populations 4. These findings indicate PTPA dysregulation contributes to neurodegeneration through impaired PP2A-mediated regulation of disease-relevant proteins including alpha-synuclein, tau, and LRRK2 1.

Sources cited
1
PTPA variants cause early-onset parkinsonism with intellectual disability through impaired PP2A activation; identified variants affect protein stability and PP2A complex formation
PMID: 36073231
2
PTPA acts as a regulatory subunit for PP2A, modulating phosphatase activity through conformational changes and stimulating phosphotyrosyl phosphatase activity in ATP/Mg2+-dependent manner
PMID: 16916641
3
PTPA is involved in apoptosis through mechanisms independent of PP2A
PMID: 17333320
4
PTPA variants associate with succinylcarnitine metabolite levels in aging populations
PMID: 37118062
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentOpen Targets
0.55Moderate
atopic eczemaOpen Targets
0.26Weak
hypersomniaOpen Targets
0.20Weak
Intellectual disabilityOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
respiratory system diseaseOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
intelligenceOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
atherosclerosisOpen Targets
0.08Suggestive
Mobius syndromeOpen Targets
0.08Suggestive
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentUniProt
Pathogenic Variants2
NM_178000.3(PTPA):c.788T>G (p.Met263Arg)Pathogenic
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
☆☆☆☆2023→ Residue 263
NM_178000.3(PTPA):c.407C>A (p.Ala136Asp)Pathogenic
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
☆☆☆☆2023→ Residue 136
View on ClinVar ↗
Related Genes
PPP4R3AProtein interaction100%PPP4R3CProtein interaction99%PPP2R1BProtein interaction98%PPP2CBProtein interaction97%PPME1Protein interaction97%PPP4R2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
99%
Heart
94%
Bone Marrow
60%
Lung
54%
Ovary
44%
Gene Interaction Network
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PTPAPPP4R3APPP4R3CPPP2R1BPPP2CBPPME1PPP4R2
PROTEIN STRUCTURE
Preparing viewer…
PDB2IXM · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.33 [0.21–0.53]
RankingsWhere PTPA stands among ~20K protein-coding genes
  • #1,290of 20,598
    Most Researched280 · top 10%
  • #4,218of 5,498
    Most Pathogenic Variants2
  • #3,312of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedPTPA
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A mycobacterial effector promotes ferroptosis-dependent pathogenicity and dissemination.
PMID: 36932056
Nat Commun · 2023
1.00
2
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
PMID: 36073231
Brain · 2023
0.90
3
Percutaneous Pulmonary Angioplasty for Patients With Takayasu Arteritis and Pulmonary Hypertension.
PMID: 35422244
J Am Coll Cardiol · 2022
0.80
4
Metagenomic and metabolomic remodeling in nonagenarians and centenarians and its association with genetic and socioeconomic factors.
PMID: 37118062
Nat Aging · 2022
0.70
5
Angiographic classification of pulmonary vascular lesion in Takayasu arteritis: A cohort study.
PMID: 37406780
Respir Med · 2023
0.60