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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HECTD4
HECT domain E3 ubiquitin protein ligase 4
Chromosome 12 Β· 12q24.13
NCBI Gene: 283450Ensembl: ENSG00000173064.14HGNC: HGNC:26611UniProt: A0A804HJX8
47PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glucose metabolic processprotein bindingglucose homeostasisubiquitin-protein transferase activityneurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosumAbnormality of the skeletal systemangina pectorisgout
✦AI Summary

HECTD4 (HECT domain E3 ubiquitin protein ligase 4) is a conserved E3 ubiquitin ligase that functions as a tumor suppressor and regulator of metabolic and developmental processes. As an E3 ubiquitin ligase, HECTD4 mediates ubiquitin conjugation to target proteins for proteasomal degradation 1. Its primary substrates include cyclooxygenase-2 (COX-2) and the MKK7 kinase, with HECTD4 suppressing COX-2-dependent anchorage-independent proliferation and metastasis in breast cancer 1. Additionally, HECTD4 stabilizes and prevents ubiquitination of IGF2BP3, an oncogenic protein, suggesting context-dependent substrate specificity in tumor progression 2. Genetically, HECTD4 variants are associated with caffeine metabolism and intake, with the rs2074356 polymorphism showing ethnicity-specific effects (associated with East Asian populations) 3. This variant also modulates the relationship between coffee consumption and obesity risk in Korean populations, with genotype-dependent effects on obesity susceptibility 4. Biallelic pathogenic variants in HECTD4 cause neurodevelopmental disorders with seizures and movement abnormalities, overlapping with Angelman syndrome phenotypes 5. HECTD4 was identified as a high-confidence neurodevelopmental disorder candidate gene through integrated analysis of de novo variants 6. Nonsynonymous variants are more frequently observed in oral cancer patients who are elderly nonsmokers 7. These findings establish HECTD4 as a pleiotropic gene regulating cancer progression, neurodevelopment, and metabolic traits through ubiquitin-mediated protein degradation.

Sources cited
1
HECTD4 mediates ubiquitin conjugation and targets COX-2 and MKK7 for degradation, functioning as a tumor and metastasis suppressor
PMID: 40768362
2
HECTD4-mediated ubiquitination of IGF2BP3 occurs in glioma progression pathway
PMID: 35031058
3
HECTD4 rs2074356 variant associated with caffeine metabolism and habitual caffeine consumption, with ethnicity-specific effects
PMID: 39438936
4
HECTD4 rs2074356 genotype modulates the association between coffee consumption and obesity in Korean populations
PMID: 39521882
5
Biallelic loss-of-function and missense variants in HECTD4 cause neurodevelopmental disorders with seizures and movement abnormalities
PMID: 36401616
6
HECTD4 identified as high-confidence candidate neurodevelopmental disorder gene through integrated variant analysis
PMID: 35468861
7
Nonsynonymous variants in HECTD4 are significantly more frequent in oral cancer patients who are elderly nonsmokers
PMID: 37272305
Disease Associationsβ“˜20
neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosumOpen Targets
0.74Strong
Abnormality of the skeletal systemOpen Targets
0.46Moderate
angina pectorisOpen Targets
0.45Moderate
goutOpen Targets
0.44Moderate
Ischemic strokeOpen Targets
0.43Moderate
strokeOpen Targets
0.42Moderate
hypertensionOpen Targets
0.41Moderate
thyroid diseaseOpen Targets
0.37Weak
myocardial infarctionOpen Targets
0.37Weak
colorectal cancerOpen Targets
0.35Weak
hypothyroidismOpen Targets
0.34Weak
atrial fibrillationOpen Targets
0.34Weak
Graves diseaseOpen Targets
0.34Weak
chronic obstructive pulmonary diseaseOpen Targets
0.33Weak
polyp of colonOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.31Weak
thrombocytopenia 4Open Targets
0.31Weak
hemorrhagic diseaseOpen Targets
0.30Weak
coronary atherosclerosisOpen Targets
0.30Weak
esophageal carcinomaOpen Targets
0.30Weak
Pathogenic Variants9
NM_001388303.1(HECTD4):c.4912del (p.Thr1638fs)Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜…β˜†β˜†β˜†2024β†’ Residue 1638
NM_001388303.1(HECTD4):c.9985C>T (p.Gln3329Ter)Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜…β˜†β˜†β˜†2023β†’ Residue 3329
NM_001388303.1(HECTD4):c.4958+1G>ALikely pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜…β˜†β˜†β˜†
NM_001388303.1(HECTD4):c.3989del (p.Val1330fs)Likely pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜…β˜†β˜†β˜†β†’ Residue 1330
NM_001388303.1(HECTD4):c.6367C>T (p.Gln2123Ter)Likely pathogenic
See cases|Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜…β˜†β˜†β˜†β†’ Residue 2123
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)Likely pathogenic
Autism spectrum disorder
β˜…β˜†β˜†β˜†β†’ Residue 3242
NM_001388303.1(HECTD4):c.2230C>T (p.Arg744Ter)Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜†β˜†β˜†β˜†2023β†’ Residue 744
NM_001388303.1(HECTD4):c.6794C>G (p.Thr2265Arg)Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜†β˜†β˜†β˜†2023β†’ Residue 2265
NM_001388303.1(HECTD4):c.10219C>T (p.His3407Tyr)Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
β˜†β˜†β˜†β˜†2023β†’ Residue 3407
View on ClinVar β†—
Related Genes
CCDC63Protein interaction70%FBN3Shared pathway50%MLXShared pathway50%MLXIPShared pathway50%GPR142Shared pathway33%OBP2AShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
47%
Ovary
33%
Lung
26%
Liver
26%
Heart
23%
Gene Interaction Network
Click a node to explore
HECTD4CCDC63FBN3MLXMLXIPGPR142OBP2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt F8VWT9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.29Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.21–0.29]
RankingsWhere HECTD4 stands among ~20K protein-coding genes
  • #9,213of 20,598
    Most Researched47
  • #2,974of 5,498
    Most Pathogenic Variants9
  • #1,080of 17,882
    Most Constrained (LOEUF)0.29 Β· top 10%
Genes detectedHECTD4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic susceptibility to caffeine intake and metabolism: a systematic review.
PMID: 39438936
J Transl Med Β· 2024
1.00
2
EWSR1-induced circNEIL3 promotes glioma progression and exosome-mediated macrophage immunosuppressive polarization via stabilizing IGF2BP3.
PMID: 35031058
Mol Cancer Β· 2022
0.90
3
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
PMID: 35468861
Genome Med Β· 2022
0.80
4
Biallelic variants in HECT E3 paralogs, HECTD4 andΒ UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
PMID: 36401616
Genet Med Β· 2023
0.70
5
The E3 ligase HECTD4 regulates COX-2-dependent tumor progression and metastasis.
PMID: 40768362
Proc Natl Acad Sci U S A Β· 2025
0.60