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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PI4K2A
phosphatidylinositol 4-kinase type 2 alpha
Chromosome 10 · 10q24.2
NCBI Gene: 55361Ensembl: ENSG00000155252.15HGNC: HGNC:30031UniProt: Q9BTU6
83PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
BLOC-1 complex1-phosphatidylinositol 4-kinase activityprotein bindingATP bindingneurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesneurodegenerative diseasehypertensionchronic obstructive pulmonary disease
✦AI Summary

PI4K2A is a membrane-bound phosphatidylinositol 4-kinase that catalyzes phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a critical lipid second messenger precursor. The enzyme localizes to the trans-Golgi network, endosomes, lysosomes, and early endosome membranes, where it facilitates multiple cellular processes 1. PI4K2A functions in autophagosome-lysosome fusion through GABARAP binding via a conserved 7-amino acid motif in its catalytic domain 23. The enzyme plays essential roles in lysosomal repair following damage, where ATG9A-containing vesicles deliver PI4K2A to damaged lysosomes in cooperation with ARFIP2 1. In secretory/endocytic trafficking, epithelial-mesenchymal transition (EMT) activates a PI4KIIIβ-to-PI4K2A dependency switch that drives hypersecretion and metastatic phenotypes in lung cancer through MYOIIA-containing complexes and receptor recycling 4. PI4K2A also participates in non-canonical autophagy-mediated antitumor immunity by generating PI4P that recruits ATG12-Atg5-Atg16L1 complexes 5, and transfers inositol metabolic enzymes via extracellular vesicles to enhance homologous recombination repair in ovarian cancer 6. Clinically, PI4K2A mutations cause neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities 7, while elevated expression predicts poor prognosis in colon adenocarcinoma 8.

Sources cited
1
The enzyme localizes to the trans-Golgi network, endosomes, lysosomes, and early endosome membranes, where it facilitates multiple cellular processes .
PMID: 40460835
2
In secretory/endocytic trafficking, epithelial-mesenchymal transition (EMT) activates a PI4KIIIβ-to-PI4K2A dependency switch that drives hypersecretion and metastatic phenotypes in lung cancer through MYOIIA-containing complexes and receptor recycling .
PMID: 36757799
3
PI4K2A also participates in non-canonical autophagy-mediated antitumor immunity by generating PI4P that recruits ATG12-Atg5-Atg16L1 complexes , and transfers inositol metabolic enzymes via extracellular vesicles to enhance homologous recombination repair in ovarian cancer .
PMID: 36280710
4
PI4K2A also participates in non-canonical autophagy-mediated antitumor immunity by generating PI4P that recruits ATG12-Atg5-Atg16L1 complexes , and transfers inositol metabolic enzymes via extracellular vesicles to enhance homologous recombination repair in ovarian cancer .
PMID: 41412121
5
Clinically, PI4K2A mutations cause neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities , while elevated expression predicts poor prognosis in colon adenocarcinoma .
PMID: 32657892
6
Clinically, PI4K2A mutations cause neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities , while elevated expression predicts poor prognosis in colon adenocarcinoma .
PMID: 35634680
Disease Associationsⓘ21
neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesOpen Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
hypertensionOpen Targets
0.15Weak
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
Young adult-onset ParkinsonismOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.04Suggestive
Autosomal dominant spastic paraplegia type 12Open Targets
0.04Suggestive
spastic ataxia 10, autosomal recessiveOpen Targets
0.04Suggestive
Spinocerebellar ataxia type 42Open Targets
0.04Suggestive
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetOpen Targets
0.04Suggestive
Spinocerebellar ataxia type 40Open Targets
0.03Suggestive
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.03Suggestive
autosomal recessive spinocerebellar ataxia 16Open Targets
0.03Suggestive
familial infantile bilateral striatal necrosisOpen Targets
0.03Suggestive
spinocerebellar ataxia 48Open Targets
0.03Suggestive
Autosomal recessive cerebelloparenchymal disorder type 3Open Targets
0.03Suggestive
autosomal recessive spinocerebellar ataxia 2Open Targets
0.03Suggestive
fragile X-associated tremor/ataxia syndromeOpen Targets
0.03Suggestive
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesUniProt
Pathogenic Variants2
NM_018425.4(PI4K2A):c.65C>A (p.Ser22Ter)Pathogenic
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
☆☆☆☆2024→ Residue 22
NM_018425.4(PI4K2A):c.925C>T (p.Arg309Ter)Pathogenic
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
☆☆☆☆2024→ Residue 309
View on ClinVar ↗
Related Genes
INPP5BProtein interaction98%SYNJ2Protein interaction98%MTM1Protein interaction94%PIK3C2AProtein interaction94%PIK3C2BProtein interaction94%PIK3C2GProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
56%
Liver
56%
Lung
54%
Brain
48%
Ovary
37%
Gene Interaction Network
Click a node to explore
PI4K2AINPP5BSYNJ2MTM1PIK3C2APIK3C2BPIK3C2G
PROTEIN STRUCTURE
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PDB5I0N · 2.28 Å · X-ray
View on RCSB ↗
RankingsWhere PI4K2A stands among ~20K protein-coding genes
  • #5,749of 20,598
    Most Researched83
  • #4,349of 5,498
    Most Pathogenic Variants2
Genes detectedPI4K2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intercellular transfer of activated STING triggered by RAB22A-mediated non-canonical autophagy promotes antitumor immunity.
PMID: 36280710
Cell Res · 2022
1.00
2
ATG9A and ARFIP2 cooperate to control PI4P levels for lysosomal repair.
PMID: 40460835
Dev Cell · 2025
0.90
3
Serotonin-licensed macrophages potentiate chemoresistance via inositol metabolic crosstalk in ovarian cancer.
PMID: 41412121
Cell Metab · 2026
0.80
4
EMT-activated secretory and endocytic vesicular trafficking programs underlie a vulnerability to PI4K2A antagonism in lung cancer.
PMID: 36757799
J Clin Invest · 2023
0.70
5
Identification of the GABARAP binding determinant in PI4K2A.
PMID: 39344512
Biosci Rep · 2024
0.60