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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PI4KB
phosphatidylinositol 4-kinase beta
Chromosome 1 Β· 1q21.3
NCBI Gene: 5298Ensembl: ENSG00000143393.17HGNC: HGNC:8984UniProt: A0A0B4J1S8
100PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
1-phosphatidylinositol 4-kinase activityinner ear developmentprotein bindingGolgi membraneneurodegenerative diseaseParkinson diseaseAlzheimer diseaselysosomal storage disease
✦AI Summary

PI4KB (phosphatidylinositol 4-kinase beta) is a lipid kinase that generates phosphatidylinositol 4-phosphate (PI4P) at the Golgi and trans-Golgi network (TGN), serving as a critical hub for membrane trafficking and cellular signaling 1. The enzyme is recruited to membranes by adaptor proteins including ACBD3 and ARMH3, which enhance its catalytic activity 12. PI4KB regulates diverse cellular processes: it controls Golgi-derived vesicle trafficking of ATG9A for presynaptic autophagy 3, mediates Rab11a activation for ciliogenesis 4, and participates in infection-induced inflammation through STING activation and mitophagy 5. Oncogenic RAS induces non-canonical autophagy via phosphorylation of PI4KB at S256/T263 by ULK1 6, with elevated phosphorylation observed in colorectal and pancreatic cancers. PI4KB is required for SARS-CoV spike-mediated cellular entry, making it a broad-spectrum antiviral target 7. Mutations in PI4KB cause autosomal-dominant deafness 87, with disease variants abnormally intensifying PI4KB-Rab11a interactions and impairing ciliogenesis in inner ear cells 4. PI4KB inhibitors represent promising therapeutic agents for RAS-mutated cancers and viral infections.

Sources cited
1
PI4KB generates PI4P and requires ACBD3-mediated recruitment to Golgi/TGN membranes for proper enzymatic activity
PMID: 27009356
2
ARMH3 activates PI4KB at the TGN through interaction with ARL5
PMID: 39580461
3
PI4KB controls PI4P synthesis required for STING activation, mitophagy, and phagolysosome formation during infection-induced inflammation
PMID: 39768205
4
Oncogenic KRAS induces non-canonical autophagy via P38-ULK1-mediated phosphorylation of PI4KB at S256/T263, with elevated phosphorylation in RAS-mutated cancers
PMID: 40055523
5
PI4KB is a broad-spectrum antiviral target with inhibitors in clinical trials
PMID: 39922541
6
SCAMP5 recruits PI4KB to the TGN for PtdIns4P production required for AP-4-mediated ATG9A trafficking and presynaptic autophagy
PMID: 40958389
7
PI4KB mediates Rab11a activation for ciliogenesis; autosomal-dominant deafness 87 mutations in PI4KB cause aberrant Rab11a localization and defective ciliogenesis
PMID: 41348894
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.57Moderate
Alzheimer diseaseOpen Targets
0.50Moderate
lysosomal storage diseaseOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.50Moderate
Parkinson diseaseOpen Targets
0.50Moderate
hearing loss, autosomal dominant 87Open Targets
0.47Moderate
neuroinflammatory disorderOpen Targets
0.37Weak
neoplasmOpen Targets
0.08Suggestive
Eczematoid dermatitisOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
Huntington diseaseOpen Targets
0.01Suggestive
genetic disorderOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
EAST syndromeOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
severe acute respiratory syndromeOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
Deafness, autosomal dominant, 87UniProt
Pathogenic Variants4
NM_001369623.2(PI4KB):c.1346T>G (p.Val449Gly)Pathogenic
Hearing loss, autosomal dominant 87
β˜†β˜†β˜†β˜†2023β†’ Residue 449
NM_001369623.2(PI4KB):c.2044G>A (p.Glu682Lys)Pathogenic
Hearing loss, autosomal dominant 87
β˜†β˜†β˜†β˜†2023β†’ Residue 682
NM_001369623.2(PI4KB):c.2261T>G (p.Met754Arg)Pathogenic
Hearing loss, autosomal dominant 87
β˜†β˜†β˜†β˜†2023β†’ Residue 754
NM_001369623.2(PI4KB):c.362A>G (p.Gln121Arg)Pathogenic
Hearing loss, autosomal dominant 87
β˜†β˜†β˜†β˜†2023β†’ Residue 121
View on ClinVar β†—
Related Genes
RAB11FIP3Protein interaction100%RAB11AProtein interaction100%NCS1Protein interaction99%MTM1Protein interaction99%PIK3C3Protein interaction99%MTMR6Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
97%
Lung
85%
Liver
59%
Heart
57%
Brain
56%
Gene Interaction Network
Click a node to explore
PI4KBRAB11FIP3RAB11ANCS1MTM1PIK3C3MTMR6
PROTEIN STRUCTURE
Preparing viewer…
PDB8Q6F Β· 1.51 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.21–0.42]
RankingsWhere PI4KB stands among ~20K protein-coding genes
  • #4,797of 20,598
    Most Researched100 Β· top quartile
  • #3,743of 5,498
    Most Pathogenic Variants4
  • #2,222of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedPI4KB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Apolipoprotein-L Functions in Membrane Remodeling.
PMID: 39768205
Cells Β· 2024
1.00
2
Oncogenic RAS induces a distinctive form of non-canonical autophagy mediated by the P38-ULK1-PI4KB axis.
PMID: 40055523
Cell Res Β· 2025
0.90
3
Targeting PI4KB and Src/Abl host kinases as broad-spectrum antiviral strategy: Myth or real opportunity?
PMID: 39922541
Antiviral Res Β· 2025
0.80
4
Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein.
PMID: 27009356
Sci Rep Β· 2016
0.70
5
ARMH3 is an ARL5 effector that promotes PI4KB-catalyzed PI4P synthesis at the trans-Golgi network.
PMID: 39580461
Nat Commun Β· 2024
0.60