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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IRX2
iroquois homeobox 2
Chromosome 5 · 5p15.33
NCBI Gene: 153572Ensembl: ENSG00000170561.14HGNC: HGNC:14359UniProt: Q9BZI1
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificnegative regulation of transcription by RNA polymerase IIfemoral neck fracturePathologic fracturebenign prostatic hyperplasiaplacenta praevia
✦AI Summary

IRX2 (iroquois homeobox 2) is a transcription factor that functions as both a DNA-binding transcriptional regulator and repressor of RNA polymerase II-dependent genes 1. As a homeobox gene, IRX2 plays critical roles in developmental processes, including neuron differentiation and cell development [GO Annotations]. IRX2 regulates transcription through sequence-specific DNA binding and chr5 interactions [GO Annotations]. Mechanistically, IRX2 exhibits context-dependent regulatory functions. In pediatric pilocytic astrocytoma, MEK-mediated proliferation occurs through IRX2-controlled CTNNB1 (β-catenin) transcription 1. In endometrial carcinoma, IRX2 acts as a transcriptional repressor of RUVBL1, with IRX2 promoter methylation (at sites cg26333652 and cg11793269) suppressing its expression and facilitating tumor progression 2. In osteosarcoma, IRX2 promotes cell proliferation and invasion by activating the PI3K/AKT signaling pathway, leading to upregulation of MMP2, MMP9, and VEGF 34. Clinically, IRX2 demonstrates cancer-type-specific dysregulation. It is frequently amplified in soft tissue sarcomas, particularly malignant peripheral nerve sheath tumors, with expression correlating with gene copy number 5. IRX2 is aberrantly expressed in B-cell precursor acute lymphoblastic leukemia, correlating with TCF3/E2A-fusion subtypes 6. During normal development, IRX2 marks digit formation during limb development 7. These findings suggest IRX2 as a potential therapeutic target across multiple malignancies.

Sources cited
1
IRX2 controls CTNNB1 transcription to mediate MEK-regulated β-catenin-dependent proliferation in pediatric pilocytic astrocytoma
PMID: 40240141
2
IRX2 acts as a transcriptional repressor of RUVBL1 in endometrial carcinoma; IRX2 expression is suppressed by promoter methylation at specific sites
PMID: 38042247
3
IRX2 upregulates MMP2 and VEGF through PI3K/AKT-dependent signaling in osteosarcoma
PMID: 26062523
4
IRX2 knockdown inhibits osteosarcoma proliferation and invasion through the AKT/MMP9 pathway; IRX2 is overexpressed in primary osteosarcoma tissues
PMID: 24806332
5
IRX2 is frequently amplified in soft tissue sarcomas, particularly MPNSTs, with expression correlating in a gene-dosage dependent manner
PMID: 16752383
6
IRX2 is aberrantly expressed in B-cell precursor acute lymphoblastic leukemia, specifically correlating with TCF3/E2A-fusion subtype; IRX2 directly represses wild-type TCF3
PMID: 36233173
7
IRX2 is expressed during mouse digit development, serving as a marker for digit formation
PMID: 11472848
8
EMP1 promotes osteosarcoma malignant progression through the IRX2/MMP9 axis
PMID: 32716150
Disease Associationsⓘ20
femoral neck fractureOpen Targets
0.31Weak
Pathologic fractureOpen Targets
0.30Weak
benign prostatic hyperplasiaOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.30Weak
blood coagulation diseaseOpen Targets
0.30Weak
KeloidOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.30Weak
ovarian dysfunctionOpen Targets
0.29Weak
crystal arthropathyOpen Targets
0.28Weak
urinary system diseaseOpen Targets
0.28Weak
urinary tract obstructionOpen Targets
0.28Weak
chondrocalcinosisOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.25Weak
idiopathic pulmonary fibrosisOpen Targets
0.24Weak
age-related hearing impairmentOpen Targets
0.24Weak
hearing lossOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.23Weak
gallbladder diseaseOpen Targets
0.22Weak
Myasthenia gravisOpen Targets
0.21Weak
spondylolisthesisOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IRX1Shared pathway75%IRX6Shared pathway67%IRX3Shared pathway50%IRX4Shared pathway50%IRX5Shared pathway40%LHX4Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
52%
Heart
38%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
IRX2IRX1IRX6IRX3IRX4IRX5LHX4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZI1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.69–1.30]
RankingsWhere IRX2 stands among ~20K protein-coding genes
  • #13,934of 20,598
    Most Researched21
  • #13,737of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedIRX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IRX2 and NPTX1 differential regulation of β-catenin underlies MEK-mediated proliferation in human neuroglial cells.
PMID: 40240141
Genes Dev · 2025
1.00
2
IRX2 regulates endometrial carcinoma oncogenesis by transcriptional repressing RUVBL1.
PMID: 38042247
Exp Cell Res · 2024
0.90
3
Frequent amplifications and abundant expression of TRIO, NKD2, and IRX2 in soft tissue sarcomas.
PMID: 16752383
Genes Chromosomes Cancer · 2006
0.80
4
IRX2-mediated upregulation of MMP-9 and VEGF in a PI3K/AKT-dependent manner.
PMID: 26062523
Mol Med Rep · 2015
0.70
5
Normal and Aberrant TALE-Class Homeobox Gene Activities in Pro-B-Cells and B-Cell Precursor Acute Lymphoblastic Leukemia.
PMID: 36233173
Int J Mol Sci · 2022
0.60