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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PI4K2B
phosphatidylinositol 4-kinase type 2 beta
Chromosome 4 · 4p15.2
NCBI Gene: 55300Ensembl: ENSG00000038210.14HGNC: HGNC:18215UniProt: G5E9Z4
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-phosphatidylinositol 4-kinase activityplasma membraneGolgi membraneendoplasmic reticulum membraneautismsmall cell lung carcinomainsomnianeoplasm
✦AI Summary

PI4K2B (phosphatidylinositol 4-kinase type 2 beta) is a membrane-associated enzyme that catalyzes phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), contributing to the overall phosphoinositide signaling capacity of the cell alongside PI4K2A and type III PI4Ks 12. This enzymatic activity is particularly significant in plasma membrane, endosomal, and Golgi compartments 12. PI4P serves as a precursor for phosphatidylinositol 4,5-bisphosphate (PIP2) and inositol 1,4,5-trisphosphate (InsP3), critical second messengers involved in cellular signaling and vesicular trafficking 12. Unlike the structurally similar PI4K2A isoform, PI4K2B lacks a GABARAP-binding motif in its catalytic domain, limiting its role in autophagosome-lysosome fusion 3. Regarding disease relevance, PI4K2B has been associated with cannabis use disorder in genome-wide association studies 4 and identified as part of a gene-by-sleepiness interaction network in sleep apnea pathogenesis 5. Additionally, PI4K2B has emerged as a minor histocompatibility antigen target in graft-versus-leukemia responses 6 and as a component of a prognostic model for cisplatin resistance in small cell lung cancer 7. While PI4K2B was investigated as a candidate gene in bipolar disorder linkage studies, no definitive evidence supported its contribution to this condition 8.

Sources cited
1
PI4K2B contributes to overall PI4-kinase activity, particularly in plasma membrane, endosomal, and Golgi compartments; phosphorylates PI to PI4P as first step in PIP2 and InsP3 generation
PMID: 11923287
2
PI4K2B contributes to overall PI4-kinase activity with significant function in membrane compartments; involved in PI4P phosphorylation and InsP3 production in stimulated cells
PMID: 12324459
3
PI4K2B lacks the GABARAP-binding motif present in PI4K2A, explaining specificity of GABARAP interaction with PI4K2A isoform
PMID: 39344512
4
PI4K2B identified as gene associated with cannabis use in genome-wide association studies
PMID: 34384432
5
PI4K2B identified in gene-by-excessive daytime sleepiness interaction analysis for sleep apnea severity
PMID: 40736211
6
PI4K2B identified as HLA class II-restricted minor histocompatibility antigen target in graft-versus-leukemia reactivity
PMID: 18316730
7
PI4K2B identified as component of prognostic model for cisplatin resistance in small cell lung cancer
PMID: 37189142
8
PI4K2B investigated as bipolar disorder candidate gene due to phosphoinositide pathway involvement with lithium; no evidence of contribution to bipolar disorder in linkage family
PMID: 19539307
Disease Associationsⓘ20
autismOpen Targets
0.12Weak
small cell lung carcinomaOpen Targets
0.06Suggestive
insomniaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
Non-Neoplastic Bile Duct DisorderOpen Targets
0.02Suggestive
bipolar disorderOpen Targets
0.02Suggestive
acute tonsillitisOpen Targets
0.02Suggestive
body weight gainOpen Targets
0.02Suggestive
lymphatic system diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
colorectal neoplasmOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
Invasive Breast CarcinomaOpen Targets
0.00Suggestive
obstructive sleep apneaOpen Targets
0.00Suggestive
sleep apneaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
INPP5BProtein interaction98%SYNJ1Protein interaction98%MTM1Protein interaction95%PIK3C2AProtein interaction95%PIK3C2BProtein interaction95%PIK3C2GProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
39%
Lung
33%
Ovary
18%
Brain
18%
Heart
15%
Gene Interaction Network
Click a node to explore
PI4K2BINPP5BSYNJ1MTM1PIK3C2APIK3C2BPIK3C2G
PROTEIN STRUCTURE
Preparing viewer…
PDB4WTV · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.70–1.46]
RankingsWhere PI4K2B stands among ~20K protein-coding genes
  • #11,772of 20,598
    Most Researched31
  • #14,899of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedPI4K2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A case-control association study and family-based expression analysis of the bipolar disorder candidate gene PI4K2B.
PMID: 19539307
J Psychiatr Res · 2009
1.00
2
Identification of the GABARAP binding determinant in PI4K2A.
PMID: 39344512
Biosci Rep · 2024
0.90
3
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
PMID: 35880319
Ann Clin Transl Neurol · 2022
0.80
4
Genetic basis of cannabis use: a systematic review.
PMID: 34384432
BMC Med Genomics · 2021
0.70
5
Genome-wide gene by sleepiness interaction analysis for sleep apnea.
PMID: 40736211
Sleep · 2026
0.60