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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PIKFYVE
phosphoinositide kinase, FYVE-type zinc finger containing
Chromosome 2 Β· 2q34
NCBI Gene: 200576Ensembl: ENSG00000115020.18HGNC: HGNC:23785UniProt: Q9Y2I7
117PubMed Papers
21Diseases
2Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of autophagosome assembly1-phosphatidylinositol-3-phosphate 5-kinase activityprotein binding1-phosphatidylinositol-5-kinase activityfleck corneal dystrophyneurodegenerative diseaselysosomal storage diseaseAlzheimer disease
✦AI Summary

PIKFYVE is a phosphoinositide kinase that plays essential roles in lysosomal function and membrane trafficking through its production of phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) 1. The enzyme is integral to lysosomal functioning and exists as part of a multi-protein complex with Fig4 and Vac14 that tightly regulates PI(3,5)P2 and PI(5)P levels 1. PIKFYVE functions downstream of AMPK signaling to maintain basal lysosomal function, specifically regulating the lysosomal Ca2+ channel MCOLN1 through PI(3,5)P2 production 2. The kinase is also required for autophagy regulation and endolysosomal trafficking processes 3. In disease contexts, PIKFYVE has emerged as a therapeutic target across diverse conditions. PIKfyve inhibition shows antiviral efficacy against SARS-CoV-2 and other coronaviruses by disrupting receptor-mediated endocytosis 4. In cancer, PIKFYVE represents a targetable vulnerability in pancreatic ductal adenocarcinoma, where its inhibition forces metabolic reprogramming and creates synthetic lethality when combined with KRAS-MAPK pathway inhibitors 5. Additionally, PIKFYVE inhibitors can rescue glutamate toxicity in frontotemporal dementia models 6. Mutations affecting the PIKfyve complex are linked to human diseases, particularly neurological disorders 1.

Sources cited
1
PIKFYVE produces PI(3,5)P2 and exists in a complex with Fig4 and Vac14 that regulates phosphoinositide levels
PMID: 35584589
2
PIKFYVE functions downstream of AMPK to regulate lysosomal Ca2+ channel MCOLN1 through PI(3,5)P2 production
PMID: 30917721
3
PIKFYVE is involved in autophagy regulation and endolysosomal processes
PMID: 32401642
4
PIKFYVE inhibition shows antiviral efficacy against SARS-CoV-2
PMID: 32645325
5
PIKFYVE is a targetable vulnerability in pancreatic cancer that creates synthetic lethality with KRAS-MAPK inhibitors
PMID: 40269157
6
PIKFYVE inhibitors can rescue glutamate toxicity in frontotemporal dementia models
PMID: 34314701
Disease Associationsβ“˜21
fleck corneal dystrophyOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.57Moderate
lysosomal storage diseaseOpen Targets
0.51Moderate
Alzheimer diseaseOpen Targets
0.51Moderate
Parkinson diseaseOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.50Moderate
alcohol drinkingOpen Targets
0.25Weak
genetic disorderOpen Targets
0.20Weak
cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Crohn's diseaseOpen Targets
0.11Weak
melanomaOpen Targets
0.09Suggestive
COVID-19Open Targets
0.08Suggestive
infectionOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
non-Hodgkins lymphomaOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
prostate cancerOpen Targets
0.06Suggestive
Miyoshi myopathyOpen Targets
0.05Suggestive
Corneal dystrophy, fleckUniProt
Pathogenic Variants24
NM_015040.4(PIKFYVE):c.4441C>T (p.Gln1481Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1481
NM_015040.4(PIKFYVE):c.3588_3610del (p.Ile1197fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1197
NM_015040.4(PIKFYVE):c.3187C>T (p.Arg1063Ter)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 1063
NM_015040.4(PIKFYVE):c.4807G>T (p.Glu1603Ter)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 1603
NM_015040.4(PIKFYVE):c.4142+1delLikely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2023
NM_015040.4(PIKFYVE):c.1510C>T (p.Gln504Ter)Likely pathogenic
PIKFYVE-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 504
NM_015040.4(PIKFYVE):c.1031del (p.Asp344fs)Likely pathogenic
PIKFYVE-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 344
NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter)Pathogenic
PIKFYVE-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1038
NM_015040.4(PIKFYVE):c.353dup (p.Gly119fs)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 119
NM_015040.4(PIKFYVE):c.5845-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2022β†’ Residue 302
NM_015040.4(PIKFYVE):c.3618+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_015040.4(PIKFYVE):c.2331+1G>CLikely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2022
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2022β†’ Residue 312
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)Pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2020β†’ Residue 1504
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)Pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2020β†’ Residue 782
NM_015040.4(PIKFYVE):c.322+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2019
NM_015040.4(PIKFYVE):c.853_854del (p.Leu285fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 285
NM_015040.4(PIKFYVE):c.4428dup (p.Val1477fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 1477
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)Likely pathogenic
Fleck corneal dystrophy
β˜…β˜†β˜†β˜†2016β†’ Residue 1167
View on ClinVar β†—
Drug Targets2
APILIMODPhase II
1-phosphatidylinositol 3-phosphate 5-kinase inhibitor
Crohn's disease
APILIMOD MESYLATEPhase II
1-phosphatidylinositol 3-phosphate 5-kinase inhibitor
non-Hodgkins lymphoma
Related Genes
LAMP2Protein interaction100%WIPI1Protein interaction100%VAC14Protein interaction100%MAP1LC3AProtein interaction100%PIK3R2Protein interaction95%MTM1Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
26%
Lung
22%
Brain
22%
Ovary
20%
Liver
18%
Gene Interaction Network
Click a node to explore
PIKFYVELAMP2WIPI1VAC14MAP1LC3APIK3R2MTM1
PROTEIN STRUCTURE
Preparing viewer…
PDB7K2V Β· 6.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.45 [0.38–0.52]
RankingsWhere PIKFYVE stands among ~20K protein-coding genes
  • #4,058of 20,598
    Most Researched117 Β· top quartile
  • #2,011of 5,498
    Most Pathogenic Variants24
  • #3,240of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedPIKFYVE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting PIKfyve-driven lipid metabolism in pancreatic cancer.
PMID: 40269157
Nature Β· 2025
1.00
2
Autophagy in the physiological endometrium and cancer.
PMID: 32401642
Autophagy Β· 2021
0.90
3
The Global Phosphorylation Landscape of SARS-CoV-2 Infection.
PMID: 32645325
Cell Β· 2020
0.80
4
Mitochondrial respiratory chain deficiency inhibits lysosomal hydrolysis.
PMID: 30917721
Autophagy Β· 2019
0.70
5
ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids.
PMID: 34314701
Cell Β· 2021
0.60