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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZFYVE27
zinc finger FYVE-type containing 27
Chromosome 10 · 10q24.2
NCBI Gene: 118813Ensembl: ENSG00000155256.19HGNC: HGNC:26559UniProt: A0A0S2Z5V0
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingvesicle-mediated transportneuron projection developmentAbnormality of the skeletal systempsoriatic arthritisSpastic paraplegiahereditary spastic paraplegia 33
✦AI Summary

ZFYVE27 (protrudin) is a key regulator of neuronal membrane trafficking and endoplasmic reticulum (ER) organization. As a FYVE-family protein, ZFYVE27 promotes axonal elongation and neuronal polarization primarily through RAB11-dependent vesicular trafficking 1. The protein functions as a peripheral membrane protein that oligomerizes into dimers/tetramers, with this oligomerization being essential for neurite extension 1. ZFYVE27 acts as a molecular adapter facilitating interactions between KIF5A motor proteins and ER-resident proteins including VAPA and VAPB, contributing to neuronal transport processes 2. Additionally, ZFYVE27 regulates ER morphogenesis by controlling the sheet-to-tubule balance and functions as a tethering factor at membrane contact sites between organelles 2. Clinically, ZFYVE27 mutations are associated with hereditary spastic paraplegia (SPG33), a progressive neurodegenerative disorder characterized by lower-limb spasticity and weakness 3. Protrudin-deficient mice exhibit depression-like behavior, hyperactivity, and cognitive deficits, suggesting broader neuropsychiatric roles beyond HSP pathology 4. Emerging evidence links ZFYVE27 variants to sarcopenia susceptibility in skeletal muscle 5, while Mendelian randomization studies suggest elevated ZFYVE27 levels may reduce pericarditis risk 6. HSP-associated mutations likely cause neurodegeneration through toxic gain-of-function rather than simple loss-of-function mechanisms.

Sources cited
1
ZFYVE27 oligomerizes into dimer/tetramer forms through HR3 domain self-interaction, and this oligomerization is necessary for neurite extension
PMID: 22216323
2
ZFYVE27 (protrudin) serves as a tethering factor at membrane contact sites, regulates ER membrane bending, and interacts with KIF5 and VAP proteins
PMID: 31406056
3
ZFYVE27 (SPG33) is mutated in hereditary spastic paraplegia and interacts with spastin; mutations affect intracellular trafficking in the corticospinal tract
PMID: 16826525
4
Protrudin-deficient mice exhibit depression-like behavior, hyperactivity, attention deficits, and reduced body size without HSP signs, suggesting HSP mutations cause toxic gain-of-function
PMID: 33172474
5
ZFYVE27 variants are associated with muscle mass and sarcopenia susceptibility in a Korean population study
PMID: 36573383
6
Mendelian randomization analysis identified ZFYVE27 as a plasma protein with causal association to pericarditis, with elevated levels decreasing pericarditis risk
PMID: 41674924
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
psoriatic arthritisOpen Targets
0.28Weak
Spastic paraplegiaOpen Targets
0.19Weak
hereditary spastic paraplegia 33Open Targets
0.19Weak
Spastic tetraparesisOpen Targets
0.12Weak
epilepsyOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.03Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
temporal lobe epilepsyOpen Targets
0.03Suggestive
hereditary spastic paraplegiaOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
autosomal dominant complex spastic paraplegiaOpen Targets
0.01Suggestive
Charcot-Marie-Tooth diseaseOpen Targets
0.00Suggestive
post-traumatic stress disorderOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB11AProtein interaction99%ALDH18A1Protein interaction96%VAPBProtein interaction90%VAPAProtein interaction90%STARD3Protein interaction90%FYCO1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
80%
Ovary
79%
Lung
53%
Heart
41%
Brain
39%
Gene Interaction Network
Click a node to explore
ZFYVE27RAB11AALDH18A1VAPBVAPASTARD3FYCO1
PROTEIN STRUCTURE
Preparing viewer…
PDB1X4U · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.51–0.87]
RankingsWhere ZFYVE27 stands among ~20K protein-coding genes
  • #9,964of 20,598
    Most Researched42
  • #7,700of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedZFYVE27
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
PMID: 35704118
Mol Genet Genomics · 2022
1.00
2
Oligomerization of ZFYVE27 (Protrudin) is necessary to promote neurite extension.
PMID: 22216323
PLoS One · 2011
0.90
3
Demographic and Genome Wide Association Analyses According to Muscle Mass Using Data of the Korean Genome and Epidemiology Study.
PMID: 36573383
J Korean Med Sci · 2022
0.80
4
Roles of protrudin at interorganelle membrane contact sites.
PMID: 31406056
Proc Jpn Acad Ser B Phys Biol Sci · 2019
0.70
5
Causal Association Between Plasma Proteins and Pericarditis: A Mendelian Randomization Study With Therapeutic Target Identification.
PMID: 41674924
Mediators Inflamm · 2026
0.60