UBE3A ubiquitin protein ligase E3A
Gene ID: 7337, updated on 16-Apr-2024Gene type: protein coding
Also known as: AS; ANCR; PIX1; E6-AP; HPVE6A; EPVE6AP
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- Go to complete Gene record for UBE3A
- Go to Variation Viewer for UBE3A variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Angelman syndrome | See labs |
| Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-08-23) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q11.2
- Sequence:
- Chromosome: 15; NC_000015.10 (25333728..25439056, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UBE3A 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UBE3A database
- Variation ViewerRelated Variants
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