HECTD2

Chr 10

HECT domain E3 ubiquitin protein ligase 2

NCBI Gene: 143279ENSG00000165338UniProt: Q5U5R9

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.27
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.27LOEUF
pLI 0.998
Z-score 5.36
OE 0.13 (0.07–0.27)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.11Z-score
OE missense 0.41 (0.36–0.47)
161 obs / 389.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.13 (0.07–0.27)
0≤0.351.4
Missense OE?0.41 (0.36–0.47)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 6 / 44.7Missense obs/exp: 161 / 389.2Syn Z: 1.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HECTD2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients