UBE2A

Chr Xq24

ubiquitin conjugating enzyme E2 A

Aliases:: UBC2, HHR6A, RAD6A, HR6A
MANE:: ENST00000371558.7

OMIM: 312180 ↗NCBI: 7319 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBE2A · P49459

v62025-08-01

Predicted Aligned Error matrix for UBE2A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.1/ 100

Very high

152 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

syndromic X-linked intellectual disability Nascimento type
0.77
X-linked intellectual disability, Nascimento type
0.73
X-linked non-syndromic intellectual disability
0.50
neurodegenerative disease
0.49
hereditary disease
0.46
diffuse large B-cell lymphoma
0.34
Intellectual disability
0.27
Neurodevelopmental delay
0.27
esophageal squamous cell carcinoma
0.08
retinitis pigmentosa
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquitin-conjugating enzyme E2 A

E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:20061386, PubMed:23685073, PubMed:25582440, PubMed:38297121). In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination (PubMed:20061386). Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1 (PubMed:16337599). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation (PubMed:16337599). Involved in mitophagy by acting as a E2 ubiquitin-conjugating enzyme for PRKN (PubMed:23685073). In association with the E3 enzyme UBR4, is involved in N-end rule-dependent protein degradation (PubMed:38182926). In association with the E3 ubiquitin-protein ligase complex SIFI, inhibits the mitochondrial stress response by acting as a E2 ubiquitin-conjugating enzyme for UBR4 and KCMF1 (PubMed:38297121)