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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.
VAC14
VAC14 component of PIKFYVE complex
Chromosome 16 Β· 16q22.1-q22.2
NCBI Gene: 55697Ensembl: ENSG00000103043.16HGNC: HGNC:25507UniProt: Q08AM6
93PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein binding1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic processendosome membranestriatonigral degeneration, childhood-onsetYunis-Varon syndromegenetic disorderpancreatic carcinoma
✦AI Summary

VAC14 is a scaffold protein component of the PIKFYVE complex that regulates phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) synthesis and turnover 1. VAC14 forms a pentameric, star-shaped structure that nucleates complex assembly and coordinates both PIKfyve kinase and FIG4 phosphatase activities to maintain normal phosphoinositide levels 2. The protein plays critical roles in endosomal trafficking and biogenesis of multivesicular bodies. VAC14 oligomerization is essential for complex function; mutations at VAC14-VAC14 interfaces impair PI(3,5)P2 generation, VAC14 localization, and complex assembly 2. Beyond its canonical role, VAC14 expression levels influence susceptibility to Salmonella Typhi infection by regulating plasma membrane cholesterol, suggesting a broader role in cellular lipid homeostasis 3. Compound-heterozygous VAC14 mutations cause childhood-onset striatonigral degeneration characterized by prominent neuronal vacuolation, progressive dystonia, and iron accumulation in basal ganglia 45. Enhanced VAC14 homodimerization represents a potential disease mechanism 4. VAC14 is also required for erythroid differentiation, with mutations contributing to anemia 6. CLCN7 reduction partially compensates for VAC14 deficiency in cellular and animal models, suggesting a therapeutic target 7.

Sources cited
1
VAC14 forms a pentameric scaffold; oligomerization is critical for PIKfyve function and PI(3,5)P2 generation; VAC14 mutations impair complex formation and localization
PMID: 40305106
2
VAC14 is a component of the PIKfyve complex that regulates PI(3,5)P2 and PI(5)P; mutations in this complex are linked to neurological diseases
PMID: 35584589
3
VAC14 expression influences susceptibility to Salmonella Typhi infection by regulating plasma membrane cholesterol
PMID: 28827342
4
VAC14 mutations cause childhood-onset complex dystonia with striato-nigral degeneration, iron accumulation, and altered homodimer formation
PMID: 32949958
5
VAC14 pathogenic variants cause striatonigral degeneration with neuronal vacuolation in basal ganglia
PMID: 31876398
6
VAC14 is required for terminal erythroid differentiation in vitro and in vivo; mutations contribute to anemia
PMID: 40221460
7
CLCN7 reduction corrects lysosomal dysfunction in VAC14 deficient cells and improves neurological outcomes in animal models
PMID: 37363915
Disease Associationsβ“˜21
striatonigral degeneration, childhood-onsetOpen Targets
0.75Strong
Yunis-Varon syndromeOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.34Weak
pancreatic carcinomaOpen Targets
0.25Weak
skull disorderOpen Targets
0.23Weak
response to antihypertensive drugOpen Targets
0.18Weak
intelligenceOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
myoepithelial tumorOpen Targets
0.11Weak
NeurodegenerationOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Mobius syndromeOpen Targets
0.08Suggestive
angina pectorisOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
acute kidney injuryOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
small cell lung carcinomaOpen Targets
0.06Suggestive
Striatonigral degeneration, childhood-onsetUniProt
Pathogenic Variants15
NM_018052.5(VAC14):c.923T>A (p.Leu308Ter)Pathogenic
Yunis-Varon syndrome|not provided|Striatonigral degeneration, childhood-onset
β˜…β˜…β˜†β˜†2024β†’ Residue 308
NM_018052.5(VAC14):c.2073del (p.Tyr692fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 692
NM_018052.5(VAC14):c.536del (p.Leu179fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_018052.5(VAC14):c.1011dup (p.Glu338fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 338
NM_018052.5(VAC14):c.1096+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_018052.5(VAC14):c.595-10_595delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_018052.5(VAC14):c.56del (p.Asn19fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 19
NM_018052.5(VAC14):c.1895C>T (p.Thr632Met)Likely pathogenic
Yunis-Varon syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 632
NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)Likely pathogenic
Striatonigral degeneration, childhood-onset
β˜…β˜†β˜†β˜†2023β†’ Residue 307
NM_018052.5(VAC14):c.104+2T>GLikely pathogenic
Striatonigral degeneration, childhood-onset
β˜…β˜†β˜†β˜†2022
NM_018052.5(VAC14):c.486+3A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu)Pathogenic
Striatonigral degeneration, childhood-onset
β˜†β˜†β˜†β˜†2016β†’ Residue 583
NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)Pathogenic
Striatonigral degeneration, childhood-onset
β˜†β˜†β˜†β˜†2016β†’ Residue 424
NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser)Pathogenic
Striatonigral degeneration, childhood-onset
β˜†β˜†β˜†β˜†2016β†’ Residue 582
NM_018052.5(VAC14):c.1528+1G>APathogenic
Striatonigral degeneration, childhood-onset
β˜†β˜†β˜†β˜†2016
View on ClinVar β†—
Related Genes
LAMP2Protein interaction100%NAAAProtein interaction100%WIPI1Protein interaction100%PIKFYVEProtein interaction100%PIK3C3Protein interaction95%RAD54LProtein interaction90%
Tissue Expression6 tissues
Lung
100%
Liver
99%
Brain
97%
Heart
87%
Ovary
71%
Bone Marrow
70%
Gene Interaction Network
Click a node to explore
VAC14LAMP2NAAAWIPI1PIKFYVEPIK3C3RAD54L
PROTEIN STRUCTURE
Preparing viewer…
PDB7K1Y Β· 5.25 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.68]
RankingsWhere VAC14 stands among ~20K protein-coding genes
  • #5,171of 20,598
    Most Researched93
  • #2,451of 5,498
    Most Pathogenic Variants15
  • #5,069of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedVAC14
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A genome-wide screen identifies genes required for erythroid differentiation.
PMID: 40221460
Nat Commun Β· 2025
1.00
2
VAC14 oligomerization is essential for the function of the FAB1/PIKfyve-VAC14-FIG4 complex.
PMID: 40305106
Mol Biol Cell Β· 2025
0.90
3
Human genetic variation in
PMID: 28827342
Proc Natl Acad Sci U S A Β· 2017
0.80
4
Roles of PIKfyve in multiple cellular pathways.
PMID: 35584589
Curr Opin Cell Biol Β· 2022
0.70
5
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
PMID: 32949958
Parkinsonism Relat Disord Β· 2020
0.60