SNF8

Chr 17q21.32

SNF8 subunit of ESCRT-II

Aliases:: EAP30, VPS22, Dot3
MANE:: ENST00000502492.6

OMIM: 610904 ↗NCBI: 11267 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNF8 · Q96H20

v62025-08-01

Predicted Aligned Error matrix for SNF8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.9/ 100

Confident

258 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)36%
Low(50–70)13%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder plus optic atrophy
0.64
developmental and epileptic encephalopathy 115
0.57
neurodegenerative disease
0.54
viral infectious disease
0.47
neurodevelopmental disorder
0.44
Intellectual disability
0.37
type 2 diabetes mellitus
0.32
hypertensive disorder
0.24
acute tonsillitis
0.23
essential hypertension
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vacuolar-sorting protein SNF8

Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs, and plays a role in autophagy (PubMed:38423010). The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)