UBE2K ubiquitin conjugating enzyme E2 K
Gene ID: 3093, updated on 4-Jan-2025Gene type: protein coding
Also known as: LIG; HIP2; HYPG; UBC1; E2-25K
- See all available tests in GTR for this gene
- Go to complete Gene record for UBE2K
- Go to Variation Viewer for UBE2K variants
Summary
The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. GeneReviews: Not available |
Genomic context
- Location:
- 4p14
- Sequence:
- Chromosome: 4; NC_000004.12 (39698136..39782792)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UBE2K variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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