Snf8 Gene Summary [Mouse]
Predicted to enable channel regulator activity; lipid binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including endosomal transport; multivesicular body assembly; and positive regulation of macromolecule metabolic process. Predicted to act upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in several cellular components, including endosome; nucleoplasm; and perinuclear region of cytoplasm. Predicted to be part of ESCRT II complex and transcription regulator complex. Is expressed in several structures, including 1st branchial arch; central nervous system; fronto-nasal process; testis; and urinary system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SNF8 (SNF8 subunit of ESCRT-II). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Snf8 |
| Official Name | SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1343161] |
| Ensembl ID | ENSMUSG00000006058 |
| Bio databases IDs | |
| Aliases | SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) |
| Synonyms | D11Moh34, DEE115, Dot3, EAP30, NEDOA, RGD1310144, SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae), SNF8 subunit of ESCRT-II, VPS22 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Snf8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- channel regulator
- lipid binding
- EAP30/Vps36 family
- protein homodimerization
- transcription factor binding
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the Snf8 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- developmental and epileptic encephalopathy type 115
- neurodevelopmental disorder plus optic atrophy
role in cell
- expression in
- activation in
- internalization in
- accumulation in
- degradation in
- signaling in
- assembly
- sorting
- macroautophagy in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
- endosomal membrane
- nucleoplasm
- recycling endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Snf8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- regulation of MAP kinase activity
- membrane fission
- positive regulation of gene expression
- early endosome to late endosome transport
- regulation of protein catabolic process
- multivesicular body sorting pathway
- positive regulation of protein catabolic process
- endocytic recycling
- macroautophagy
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- ESCRT II complex
- plasma membrane
- nucleoplasm
- nucleus
- late endosome membrane
- transcription factor complex
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- endosome membrane
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- lipid binding
- channel regulator activity