HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PIP4K2A
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
Chromosome 10 · 10p12.2
NCBI Gene: 5305Ensembl: ENSG00000150867.15HGNC: HGNC:8997UniProt: P48426
117PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein binding1-phosphatidylinositol-4-phosphate 5-kinase activity1-phosphatidylinositol-5-phosphate 4-kinase activityprotein homodimerization activityneurodegenerative diseaseB-cell acute lymphoblastic leukemiaosteoarthritis, hipalcohol drinking
✦AI Summary

PIP4K2A encodes a lipid kinase that catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) to generate phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), a critical signaling lipid 1. Beyond its canonical enzymatic function, PIP4K2A exhibits important kinase-independent roles in cellular regulation. The protein modulates autophagy through the AKT/mTOR/ATG13 pathway and is essential for autophagosome-lysosome fusion 2. PIP4K2A also functions in RNA processing, where it regulates pre-mRNA splicing through interactions with RNA-binding proteins like IGF2BP3 3. In cancer biology, PIP4K2A displays context-dependent roles. It acts as a tumor suppressor in PTEN-deficient glioblastoma by targeting the PI3K pathway component p85 for proteasome-mediated degradation, thereby negatively regulating PI3K signaling 4. Conversely, in acute myeloid leukemia, elevated PIP4K2A expression correlates with poor cytogenetic risk and adverse clinical outcomes 5. Genetic polymorphisms in PIP4K2A are associated with acute lymphoblastic leukemia susceptibility across multiple ethnic populations 6. These findings highlight PIP4K2A as a multifunctional protein with both canonical kinase activity and non-canonical regulatory functions that significantly impact cellular homeostasis and disease progression.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
B-cell acute lymphoblastic leukemiaOpen Targets
0.44Moderate
osteoarthritis, hipOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
hyperlipidemiaOpen Targets
0.33Weak
metabolic diseaseOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.33Weak
duodenal ulcerOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
breast carcinomaOpen Targets
0.31Weak
hypothyroidismOpen Targets
0.30Weak
acute lymphoblastic leukemiaOpen Targets
0.30Weak
intelligenceOpen Targets
0.30Weak
total hip arthroplastyOpen Targets
0.30Weak
medical procedureOpen Targets
0.29Weak
luminal A breast carcinomaOpen Targets
0.29Weak
androgenetic alopeciaOpen Targets
0.28Weak
estrogen-receptor positive breast cancerOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLN2Protein interaction100%PIK3R3Protein interaction100%PIK3R1Protein interaction100%PIK3CBProtein interaction100%PIK3CDProtein interaction100%PIK3CAProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
25%
Lung
11%
Heart
7%
Liver
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
PIP4K2ATLN2PIK3R3PIK3R1PIK3CBPIK3CDPIK3CA
PROTEIN STRUCTURE
Preparing viewer…
PDB6UX9 · 1.71 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.74Intermediate
Observed/Expected LoF0.35 [0.20–0.62]
RankingsWhere PIP4K2A stands among ~20K protein-coding genes
  • #4,059of 20,598
    Most Researched117 · top quartile
  • #4,369of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedPIP4K2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of single-cell RNA-seq, bulk RNA-seq, Mendelian randomization, and eQTL reveals T cell-related nomogram model and subtype classification in rheumatoid arthritis.
PMID: 38962008
Front Immunol · 2024
1.00
2
Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.
PMID: 36952466
J Pediatr Hematol Oncol · 2023
0.90
3
Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility.
PMID: 27149463
Medicine (Baltimore) · 2016
0.80
4
Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis.
PMID: 38059827
Adv Sci (Weinh) · 2024
0.70
5
Non-canonical functions of PIP4K2A and its role in cancer biology: A review.
PMID: 40505929
Int J Biol Macromol · 2025
0.60