UBE2D2 ubiquitin conjugating enzyme E2 D2
Gene ID: 7322, updated on 5-Mar-2024Gene type: protein coding
Also known as: UBC4; PUBC1; UBCH4; UBC4/5; UBCH5B; E2(17)KB2
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- Go to complete Gene record for UBE2D2
- Go to Variation Viewer for UBE2D2 variants
Summary
Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available |
Genomic context
- Location:
- 5q31.2
- Sequence:
- Chromosome: 5; NC_000005.10 (139526240..139628434)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for UBE2D2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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