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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IRX4
iroquois homeobox 4
Chromosome 5 · 5p15.33
NCBI Gene: 50805Ensembl: ENSG00000113430.12HGNC: HGNC:6129UniProt: P78413
20PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificchromatinnucleusprostate carcinomaprostate cancerventricular septal defect 1restless legs syndrome
✦AI Summary

IRX4 (Iroquois homeobox 4) is a ventricle-restricted homeobox transcription factor that functions as a critical mediator of cardiac ventricular differentiation during development 1. The gene encodes a DNA-binding transcription factor whose cardiac expression is modulated downstream of cardiac transcription factors Nkx2-5 and dHand 1. IRX4 expression is predominantly restricted to ventricular myocardium from embryonic stages through adulthood, with minimal expression in atrial or outflow tract regions 1. Structurally, the IRX4 homeodomain contains conserved amino acid residues critical for DNA binding and protein-DNA complex stability, with specific residues (R145, R198, R199) essential for interaction with consensus DNA sequences 2. Clinically, IRX4 mutations are associated with congenital heart disease, particularly ventricular septal defects 3. Identified disease-causing mutations (p.Asn85Tyr and p.Glu92Gly) significantly impair IRX4 interaction with RXRA, suggesting a causative role in cardiac developmental pathology 3. Beyond cardiac development, IRX4 functions as a tumor suppressor in multiple cancer types. In prostate cancer, IRX4 suppresses cell growth through interaction with the vitamin D receptor pathway 4, while in colorectal cancer, IRX4 overexpression inhibits proliferation and enhances chemosensitivity to oxaliplatin by suppressing NF-κB/EGFR signaling 5. Alternative splicing generates multiple IRX4 isoforms with distinct functional properties relevant to cancer progression 6.

Sources cited
1
IRX4 is exclusively expressed in ventricular myocardium and is downstream of Nkx2-5 and dHand during cardiac development
PMID: 10625552
2
IRX4 homeodomain contains conserved residues (R145, R198, R199, A194, N195) critical for DNA binding and protein-DNA complex stability
PMID: 37861198
3
IRX4 mutations (p.Asn85Tyr and p.Glu92Gly) impair RXRA interaction and are associated with congenital heart disease and ventricular septal defects
PMID: 21544582
4
IRX4 suppresses prostate cancer growth through interaction with vitamin D receptor and acts as a tumor suppressor
PMID: 22323358
5
IRX4 overexpression inhibits colorectal cancer cell proliferation and enhances chemosensitivity to oxaliplatin by suppressing NF-κB/EGFR pathway
PMID: 41646966
6
IRX4 undergoes alternative splicing generating multiple isoforms with distinct functional properties relevant to prostate cancer progression
PMID: 33919200
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.54Moderate
prostate cancerOpen Targets
0.50Moderate
ventricular septal defect 1Open Targets
0.42Moderate
restless legs syndromeOpen Targets
0.31Weak
facial morphologyOpen Targets
0.31Weak
Abnormal blistering of the skinOpen Targets
0.29Weak
endocrine neoplasmOpen Targets
0.29Weak
duodenal ulcerOpen Targets
0.25Weak
benign prostatic hyperplasiaOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.20Weak
liver diseaseOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.19Weak
Increased total eosinophil countOpen Targets
0.19Weak
pancreatic intraductal papillary-mucinous neoplasmOpen Targets
0.19Weak
preeclampsiaOpen Targets
0.18Weak
protozoa infectious diseaseOpen Targets
0.18Weak
hyperpituitarismOpen Targets
0.18Weak
Parkinson diseaseOpen Targets
0.17Weak
acute tonsillitisOpen Targets
0.17Weak
Pathogenic Variants3
NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)Pathogenic
Ventricular septal defect 1
☆☆☆☆→ Residue 24
NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)Pathogenic
Ventricular septal defect 1
☆☆☆☆→ Residue 191
NM_016358.3(IRX4):c.240G>A (p.Ser80=)Pathogenic
See cases
☆☆☆☆→ Residue 80
View on ClinVar ↗
Related Genes
NKX2-5Protein interaction80%HAND2Protein interaction80%AKAP11Protein interaction73%IRX6Shared pathway67%IRX2Shared pathway50%IRX5Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Ovary
1%
Brain
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
IRX4NKX2-5HAND2AKAP11IRX6IRX2IRX5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P78413
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.55–1.13]
RankingsWhere IRX4 stands among ~20K protein-coding genes
  • #14,174of 20,598
    Most Researched20
  • #4,150of 5,498
    Most Pathogenic Variants3
  • #11,672of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedIRX4
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
1.00
2
Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand.
PMID: 10625552
Dev Biol · 2000
0.90
3
Dynamics and recognition of homeodomain containing protein-DNA complex of IRX4.
PMID: 37861198
Proteins · 2024
0.80
4
Two novel mutations of the IRX4 gene in patients with congenital heart disease.
PMID: 21544582
Hum Genet · 2011
0.70
5
IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility.
PMID: 22323358
Hum Mol Genet · 2012
0.60