UBE3A Chromosome 15
Ubiquitin protein ligase E3A
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What This Gene Does
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HECT domain containing
Locus Type
gene with protein product
Location
15q11.2
Ensembl
ENSG00000114062
Associated Conditions (9)
Intellectual disability
Angelman syndrome
Inborn genetic diseases
Developmental delay
See cases
UBE3A-related disorder
6 conditions
Epileptic encephalopathy
Neurodevelopmental disorder
Key Variants
RS1312971608
Conflicting classifications of pathogenicity
Intellectual disability, Angelman syndrome, Intellectual disability
Health Risk
RS1398256620
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS1555393315
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS2152515457
Conflicting classifications of pathogenicity
Health Risk
RS2552181678
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS369853017
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS376815580
Conflicting classifications of pathogenicity
Angelman syndrome, Inborn genetic diseases, Angelman syndrome
Health Risk
RS587782926
Conflicting classifications of pathogenicity
Health Risk
RS587784517
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS587784523
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
RS587784524
Conflicting classifications of pathogenicity
Angelman syndrome, Inborn genetic diseases, Angelman syndrome
Health Risk
RS587784528
Conflicting classifications of pathogenicity
Angelman syndrome, Angelman syndrome
Health Risk
All Variants (249)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587781232 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781235 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781236 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781237 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781238 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781240 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587781241 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784508 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784509 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784513 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784514 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784515 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784519 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784520 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784526 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784527 | Health Risk | Pathogenic | Angelman syndrome, Inborn genetic diseases, Intellectual disability |
| RS587784529 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784530 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784532 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS587784533 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS755078197 | Health Risk | Pathogenic | — |
| RS76794400 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS779846117 | Health Risk | Pathogenic | — |
| RS786200996 | Health Risk | Pathogenic | — |
| RS794727738 | Health Risk | Pathogenic | — |
| RS797046084 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS797046085 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS797046086 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS797046087 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS797046088 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS863225068 | Health Risk | Pathogenic | Angelman syndrome, Epileptic encephalopathy, Angelman syndrome |
| RS863225070 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS864309506 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS864309508 | Health Risk | Pathogenic | Angelman syndrome, Inborn genetic diseases, UBE3A-related disorder |
| RS886039448 | Health Risk | Pathogenic | — |
| RS886039476 | Health Risk | Pathogenic | — |
| RS886039516 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS886041252 | Health Risk | Pathogenic | — |
| RS886041283 | Health Risk | Pathogenic | — |
| RS886041289 | Health Risk | Pathogenic | — |
| RS886041451 | Health Risk | Pathogenic | — |
| RS886041603 | Health Risk | Pathogenic | Angelman syndrome, Angelman syndrome |
| RS886043612 | Health Risk | Pathogenic | — |
| RS997044541 | Health Risk | Pathogenic | Angelman syndrome, Intellectual disability, Angelman syndrome |
| RS1555380820 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Angelman syndrome, Inborn genetic diseases |
| RS1555391286 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Angelman syndrome, Inborn genetic diseases |
| RS398124440 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome, Angelman syndrome, Inborn genetic diseases |
| RS587781239 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome, Inborn genetic diseases, Neurodevelopmental disorder |
| RS587784534 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome, Angelman syndrome |