UBA2 ubiquitin like modifier activating enzyme 2
Gene ID: 10054, updated on 10-Oct-2024Gene type: protein coding
Also known as: ARX; SAE2; ACCES; HRIHFB2115
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- Go to complete Gene record for UBA2
- Go to Variation Viewer for UBA2 variants
Summary
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| ACCES syndrome | not available |
Genomic context
- Location:
- 19q13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (34428381..34471251)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UBA2 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
- Variation ViewerRelated Variants
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