Identity
HGNC
LOCATION
17q21.32
LOCUSID
ALIAS
Dot3,EAP30,VPS22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11267
MIM: 610904
HGNC: 17028
Ensembl: ENSG00000159210
Variants:
dbSNP: 11267
ClinVar: 11267
TCGA: ENSG00000159210
COSMIC: SNF8
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38423010 | 2024 | Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. | 2 |
| 38423010 | 2024 | Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. | 2 |
| 29084253 | 2017 | Pivotal role for the ESCRT-II complex subunit EAP30/SNF8 in IRF3-dependent innate antiviral defense. | 14 |
| 29084253 | 2017 | Pivotal role for the ESCRT-II complex subunit EAP30/SNF8 in IRF3-dependent innate antiviral defense. | 14 |
| 25232011 | 2014 | Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death. | 28 |
| 25232011 | 2014 | Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death. | 28 |
| 23171048 | 2012 | SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity. | 3 |
| 23171048 | 2012 | SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity. | 3 |
| 17714434 | 2007 | Vps22/EAP30 in ESCRT-II mediates endosomal sorting of growth factor and chemokine receptors destined for lysosomal degradation. | 62 |
| 17714434 | 2007 | Vps22/EAP30 in ESCRT-II mediates endosomal sorting of growth factor and chemokine receptors destined for lysosomal degradation. | 62 |
| 16371348 | 2006 | Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII. | 78 |
| 16973552 | 2006 | Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release. | 95 |
| 16371348 | 2006 | Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII. | 78 |
| 16973552 | 2006 | Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release. | 95 |
Citation
Dessen P
SNF8 (SNF8 subunit of ESCRT-II)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54646/snf8-(snf8-subunit-of-escrt-ii)
