HECTD4 Chromosome 12
HECT domain E3 ubiquitin protein ligase 4
Upload your DNA to see your personal genotypes for variants in HECTD4.
What This Gene Does
Predicted to enable ubiquitin-protein transferase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"MicroRNA protein coding host genes|HECT domain containing"
Locus Type
gene with protein product
Location
12q24.13
Ensembl
ENSG00000173064
Associated Conditions (5)
See cases
Neurodevelopmental disorder with seizures
spasticity
and complete or partial agenesis of the corpus callosum
Autism spectrum disorder
Key Variants
RS2499880851
Likely pathogenic
See cases, Neurodevelopmental disorder with seizures, spasticity
Health Risk
RS2499908060
Likely pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
RS754540615
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1555248311
Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
RS1566079629
Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
RS2034375788
Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
RS2499776647
Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
RS2499908135
Pathogenic
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2499880851 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with seizures, spasticity |
| RS2499908060 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
| RS754540615 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1555248311 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
| RS1566079629 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
| RS2034375788 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
| RS2499776647 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
| RS2499908135 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |