SNF8 Chromosome 17
SNF8 subunit of ESCRT-II
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What This Gene Does
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]
Gene Info
Gene Group
ESCRT-II
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000159210
Associated Conditions (4)
SNF8-associated disease
Neurodevelopmental disorder plus optic atrophy
Developmental and epileptic encephalopathy 115
SNF8-associated disorder
Key Variants
RS200399045
Conflicting classifications of pathogenicity
SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease
Health Risk
RS113908000
Pathogenic
SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease
Health Risk
RS2040862241
Pathogenic
SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disorder
Health Risk
RS2041013413
Pathogenic
SNF8-associated disease, Developmental and epileptic encephalopathy 115, Neurodevelopmental disorder plus optic atrophy
Health Risk
RS2509787371
Pathogenic
SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease
Health Risk
RS750828431
Pathogenic
SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disorder
Health Risk
RS767243173
Pathogenic
SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disease
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200399045 | Health Risk | Conflicting classifications of pathogenicity | SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease |
| RS113908000 | Health Risk | Pathogenic | SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease |
| RS2040862241 | Health Risk | Pathogenic | SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disorder |
| RS2041013413 | Health Risk | Pathogenic | SNF8-associated disease, Developmental and epileptic encephalopathy 115, Neurodevelopmental disorder plus optic atrophy |
| RS2509787371 | Health Risk | Pathogenic | SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy, SNF8-associated disease |
| RS750828431 | Health Risk | Pathogenic | SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disorder |
| RS767243173 | Health Risk | Pathogenic | SNF8-associated disease, Developmental and epileptic encephalopathy 115, SNF8-associated disease |