SNF8 SNF8 subunit of ESCRT-II
Gene ID: 11267, updated on 2-Nov-2024Gene type: protein coding
Also known as: Dot3; EAP30; NEDOA; VPS22; DEE115
- See all available tests in GTR for this gene
- Go to complete Gene record for SNF8
- Go to Variation Viewer for SNF8 variants
Summary
The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy 115 | not available |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Neurodevelopmental disorder plus optic atrophy | See labs |
Genomic context
- Location:
- 17q21.32
- Sequence:
- Chromosome: 17; NC_000017.11 (48929316..48944842, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SNF8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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