Basic Information

Symbol
UBE2A
RNA class
mRNA
Alias
Ubiquitin Conjugating Enzyme E2 A HHR6A RAD6A UBC2 HR6A Ubiquitin-Conjugating Enzyme E2 A E2 Ubiquitin-Conjugating Enzyme A Ubiquitin-Conjugating Enzyme E2A Ubiquitin Carrier Protein A Ubiquitin-Protein Ligase A RAD6 Homolog A Ubiquitin-Conjugating Enzyme E2A (RAD6 Homolog) EC 2.3.2.23 EC 6.3.2.19 MRXS30 MRXSN
Location (GRCh38)
X:119474802-119591083
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Forensic psychiatry evaluation
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003336.4
Sequence length
1776.0 nt
GC content
0.4150

Transcripts

ID Sequence Length GC content
NM_001282161.2 NCBI
AGACCGACCCUCGACUUCGGAGAGGCAGCGCGGUUCCUCUGGGUGCUUC… 1769 nt 0.4144
NM_003336.4 NCBI
AGACCGACCCUCGACUUCGGAGAGGCAGCGCGGUUCCUCUGGGUGCUUC… 1776 nt 0.4150
NM_181762.3 NCBI
AGACCGACCCUCGACUUCGGAGAGGCAGCGCGGUUCCUCUGGGUGCUUC… 1686 nt 0.4205
Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] CIViC Summary for UBE2A Gene

Forensic Context

A study in mice demonstrated that the UBE2A is regulated by the circRNA CDR1as, which acts as a miR-7 sponge, and this regulatory axis is implicated in Alzheimer's disease pathogenesis [Mehta et al. DOI:10.1016/j.pneurobio.2020.101746].