Gene

snf8

ID

ZDB-GENE-041114-117

Name

SNF8 subunit of ESCRT-II

Symbol

snf8 Nomenclature History

Previous Names

zgc:101578

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Acts upstream of or within forebrain development and optic chiasma development. Predicted to be located in cytoplasm. Predicted to be part of ESCRT II complex. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SNF8 (SNF8 subunit of ESCRT-II).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from O'Boyle et al., 2007

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from Brugger et al., 2024
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With snf8 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Developmental and epileptic encephalopathy 115	620783
		Neurodevelopmental disorder plus optic atrophy	620784

Associated With snf8 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR016689	ESCRT-2 complex, Snf8
Family	IPR040608	Snf8/Vps36 family
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily
Homologous_superfamily	IPR036390	Winged helix DNA-binding domain superfamily