IRX4 Chromosome 5
Iroquois homeobox 4
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What This Gene Does
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell development; neuron differentiation; and regulation of DNA-templated transcription. Predicted to act upstream of or within heart development. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
TALE class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000113430
Associated Conditions (2)
Ventricular septal defect 1
See cases
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1291177151 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |
| RS2477369177 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |
| RS567556846 | Health Risk | Pathogenic | See cases, See cases |