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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SNF8
SNF8 subunit of ESCRT-II
Chromosome 17 Β· 17q21.32
NCBI Gene: 11267Ensembl: ENSG00000159210.11HGNC: HGNC:17028UniProt: Q96H20
65PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ESCRT II complexregulation of transcription by RNA polymerase IIprotein bindinglipid bindingneurodevelopmental disorder plus optic atrophydevelopmental and epileptic encephalopathy 115neurodegenerative diseaseviral disease
✦AI Summary

SNF8 is a core component of the ESCRT-II complex essential for membrane trafficking and cellular homeostasis. Functionally, SNF8 mediates multivesicular body (MVB) formation and endosomal cargo sorting for lysosomal degradation 1, particularly of transmembrane proteins like EGFR and CXCR4. Beyond canonical ESCRT functions, SNF8 participates in exosomal cargo sorting, enabling release of proteins including CD63 and syndecan 2, and regulates TRPC6 ion channel activity through direct protein-protein interaction 3. SNF8 also functions in the nucleus as a transcriptional co-regulator, interacting with IRF3 and CBP to promote type I/III interferon responses during antiviral defense 4, and modulates DAF-16-dependent longevity pathways 5. Clinically, bi-allelic SNF8 variants cause a severe neurodevelopmental spectrum: loss-of-function mutations produce devastating developmental and epileptic encephalopathy with massive white matter reduction and early death, while hypomorphic variants (p.Val102Ile) result in milder phenotypes including intellectual disability and optic atrophy 1. Disease mechanisms primarily involve impaired autophagy and ESCRT-II complex dysfunction, validated in zebrafish models showing developmental delay and optic nerve impairment. These findings establish SNF8 as a multifunctional hub integrating membrane trafficking, transcriptional regulation, and cellular stress responses critical for neurological development.

Sources cited
1
SNF8 bi-allelic variants cause developmental and epileptic encephalopathy or syndromic optic atrophy; mechanism involves loss of ESCRT-II function and impaired autophagic flux
PMID: 38423010
2
SNF8 is required for exosomal release of SDCBP, CD63, and syndecan
PMID: 22660413
3
SNF8 interacts with TRPC6 ion channel and enhances its channel activity without affecting surface expression
PMID: 23171048
4
SNF8 (EAP30) localizes to the nucleus and forms a complex with IRF3 and CBP to promote IRF3-dependent type I/III interferon and chemokine induction during antiviral response
PMID: 29084253
5
SNF8 (VPS-22) regulates lifespan by modulating DAF-16 nuclear localization and activity in C. elegans aging pathways
PMID: 32829877
6
SNF8 (VPS22) interacts with RILP, suggesting a role in multivesicular body biogenesis
PMID: 16857164
Disease Associationsβ“˜22
neurodevelopmental disorder plus optic atrophyOpen Targets
0.64Moderate
developmental and epileptic encephalopathy 115Open Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.44Moderate
Intellectual disabilityOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
hypertensionOpen Targets
0.29Weak
acute tonsillitisOpen Targets
0.23Weak
schizophreniaOpen Targets
0.21Weak
essential hypertensionOpen Targets
0.20Weak
optic atrophyOpen Targets
0.19Weak
epilepsyOpen Targets
0.18Weak
response to xenobiotic stimulusOpen Targets
0.16Weak
asthmaOpen Targets
0.14Weak
cardiovascular diseaseOpen Targets
0.13Weak
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
metabolic diseaseOpen Targets
0.09Suggestive
prostate carcinomaOpen Targets
0.08Suggestive
Developmental and epileptic encephalopathy 115UniProt
Neurodevelopmental disorder plus optic atrophyUniProt
Pathogenic Variants6
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)Pathogenic
SNF8-associated disease|Developmental and epileptic encephalopathy 115|SNF8-associated disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 167
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)Pathogenic
SNF8-associated disease|Developmental and epileptic encephalopathy 115|SNF8-associated disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 191
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)Pathogenic
SNF8-associated disease|Developmental and epileptic encephalopathy 115|Neurodevelopmental disorder plus optic atrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 79
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)Pathogenic
SNF8-associated disease|Developmental and epileptic encephalopathy 115
β˜…β˜†β˜†β˜†2023β†’ Residue 208
NM_007241.4(SNF8):c.423-1G>CPathogenic
SNF8-associated disease|Neurodevelopmental disorder plus optic atrophy
β˜…β˜†β˜†β˜†2023
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)Pathogenic
SNF8-associated disease|Neurodevelopmental disorder plus optic atrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 225
View on ClinVar β†—
Related Genes
ELLProtein interaction100%CHMP3Protein interaction100%CHMP2AProtein interaction100%CHMP6Protein interaction100%CHMP1BProtein interaction99%CHMP2BProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Lung
91%
Ovary
80%
Heart
79%
Brain
78%
Bone Marrow
72%
Gene Interaction Network
Click a node to explore
SNF8ELLCHMP3CHMP2ACHMP6CHMP1BCHMP2B
PROTEIN STRUCTURE
Preparing viewer…
PDB3CUQ Β· 2.61 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.40–0.85]
RankingsWhere SNF8 stands among ~20K protein-coding genes
  • #7,207of 20,598
    Most Researched65
  • #3,372of 5,498
    Most Pathogenic Variants6
  • #7,422of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedSNF8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
PMID: 38423010
Am J Hum Genet Β· 2024
1.00
2
VPS-22/SNF8 regulates longevity via modulating the activity of DAF-16 in C.Β elegans.
PMID: 32829877
Biochem Biophys Res Commun Β· 2020
0.90
3
SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity.
PMID: 23171048
BMC Cell Biol Β· 2012
0.80
4
Tumor-suppressive circRHOBTB3 is excreted out of cells via exosome to sustain colorectal cancer cell fitness.
PMID: 35148775
Mol Cancer Β· 2022
0.70
5
Cloning and characterization of ELL-associated proteins EAP45 and EAP20. a role for yeast EAP-like proteins in regulation of gene expression by glucose.
PMID: 11278625
J Biol Chem Β· 2001
0.60