UBE4A Chromosome 11
Ubiquitination factor E4A
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What This Gene Does
This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"U-box domain containing|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000110344
Associated Conditions (3)
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Neurodevelopmental disorder
UBE4A-related disorder
Key Variants
RS1948638548
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS2496943725
Likely pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS2496959742
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2134089305
Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS2134092709
Pathogenic
UBE4A-related disorder, UBE4A-related disorder
Health Risk
RS748926976
Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS1565532385
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1948638548 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS2496943725 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS2496959742 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2134089305 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS2134092709 | Health Risk | Pathogenic | UBE4A-related disorder, UBE4A-related disorder |
| RS748926976 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS1565532385 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |