HECTD4

Chr 12q24.13

HECT domain E3 ubiquitin protein ligase 4

Aliases:: FLJ34154, KIAA0614
MANE:: ENST00000682272.1

OMIM: 620209 ↗NCBI: 283450 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HECTD4 · Q9Y4D8-2isoform

No predicted structure exists for the canonical Q9Y4D8 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for HECTD4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.8/ 100

Low

2,386 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)52%
Low(50–70)18%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
0.74
Abnormality of the skeletal system
0.45
angina pectoris
0.43
gout
0.43
stroke disorder
0.42
ischemic stroke
0.41
hypertensive disorder
0.40
Graves disease
0.38
myocardial infarction
0.37
alcohol drinking
0.37

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

Protein function (UniProt)

Probable E3 ubiquitin-protein ligase HECTD4

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates