UBE4A

Chr 11q23.3

ubiquitination factor E4A

Aliases:: UBOX2, UFD2, KIAA0126, E4
MANE:: ENST00000252108.8

OMIM: 603753 ↗NCBI: 9354 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBE4A · Q14139

v62025-08-01

Predicted Aligned Error matrix for UBE4A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.6/ 100

Confident

1,066 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)26%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia and gross motor and speech delay
0.65
neurodevelopmental disorder
0.44
Intellectual disability
0.37
autosomal recessive non-syndromic intellectual disability
0.37
neurodegenerative disease
0.37
retinitis pigmentosa
0.27
hereditary disease
0.19
femoral neck fracture
0.10
neoplasm
0.08
colorectal carcinoma
0.08

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

Protein function (UniProt)

Ubiquitin conjugation factor E4 A

Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates