IRX5 Gene - Iroquois Homeobox 5
Key regulator of cardiac conduction, limb development, and craniofacial patterning
Gene Information Card
| Symbol | IRX5 |
|---|---|
| Full Name | Iroquois homeobox 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q12.2 |
| NCBI Gene ID | 10265 ncbi.nlm.nih.gov/gene/10265 |
| Ensembl ID | ENSG00000103056 |
| UniProt ID | P78411 |
| OMIM ID | 606195 |
| HGNC ID | 14361 |
| Aliases | IRX-5, Iroquois-class homeodomain protein IRX-5 |
Description
IRX5 encodes a member of the Iroquois homeobox family of transcription factors, which play critical roles in pattern formation during embryonic development. IRX5 is essential for cardiac ventricular conduction system maturation, limb bud patterning, and craniofacial morphogenesis. It functions as a transcriptional repressor by binding to specific DNA sequences via its homeodomain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac conduction defect | Loss of IRX5 disrupts ventricular conduction system development, leading to slowed impulse propagation | PMID: 21909074 |
| Craniofacial anomalies (e.g., cleft palate) | IRX5 regulates neural crest cell migration and palatal shelf fusion | PMID: 22949511 |
| Limb malformations | IRX5 controls anterior-posterior patterning of the limb bud; mutations cause digit defects | PMID: 16207763 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 15.2 | High expression in ventricular subtype |
| SH-SY5Y (neuroblastoma) | 2.1 | Low |
| HEK293 (embryonic kidney) | 1.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | Rare | Loss of DNA-binding ability; associated with cardiac conduction defects |
| c.721G>A (p.Gly241Arg) | Missense | Rare | Impaired transcriptional repression; linked to craniofacial anomalies |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the homeodomain (e.g., p.Arg168Trp) abolish DNA binding and transcriptional repression, leading to haploinsufficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in IRX5.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by dimerizing with wild-type IRX5 and blocking its function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Iroquois homeobox pathway
• Cardiac conduction system development
• Limb bud patterning (Shh/Gli3 signaling)
Protein Summary
IRX5 is a 418-amino acid homeodomain transcription factor that localizes to the nucleus. It contains a highly conserved Iroquois homeodomain that mediates sequence-specific DNA binding. IRX5 functions primarily as a transcriptional repressor, regulating genes involved in cell proliferation, differentiation, and patterning during embryogenesis. Its expression is enriched in the developing heart, limb buds, and craniofacial structures.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRX5 Knockout HEK293 Cell Line | EDJ-KQ6981 | Human | 10265 | Details Get a Quote |
| IRX5 Knockout HeLa Cell Line | EDJ-KQ31684 | Human | 10265 | Details Get a Quote |
| IRX5 Knockout A-549 Cell Line | EDJ-KQ63843 | Human | 10265 | Details Get a Quote |
| IRX5 Knockout HCT 116 Cell Line | EDJ-KQ72302 | Human | 10265 | Details Get a Quote |
