IRX2

Chr 5

iroquois homeobox 2

Also known as: IRXA2

NCBI Gene: 153572ENSG00000170561UniProt: Q9BZI1

IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]

0
ClinVar variants
0
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— IRX2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.78LOEUF
pLI 0.022
Z-score 2.14
OE 0.37 (0.19–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.56Z-score
OE missense 0.90 (0.81–1.01)
221 obs / 245.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.37 (0.19–0.78)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.90 (0.81–1.01)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.13
0≤1.21.6
LoF obs/exp: 5 / 13.5Missense obs/exp: 221 / 245.6Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IRX2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
IRX2 regulates endometrial carcinoma oncogenesis by transcriptional repressing RUVBL1.
Xu Q et al.·Exp Cell Res
2024
EMP1 promotes the malignant progression of osteosarcoma through the IRX2/MMP9 axis.
Wang M et al.·Panminerva Med
2020
Slow down my beating heart: induction of cardiac fibrosis by Iroquois homeobox 2.
Petrikas M et al.·Tissue Barriers
2025
Genetic linkage studies of a North Carolina macular dystrophy family.
Audere M et al.·Medicina (Kaunas)
2016
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line.
Rosa MN et al.·Sci Rep
2019
Gateways to clinical trials.
Bayes M et al.·Methods Find Exp Clin Pharmacol
2004Review
Phase Ib trial of IRX-2 plus durvalumab in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.
Park R et al.·Oral Oncol
2024Clinical trial
DNA methylation in human gastric epithelial cells defines regional identity without restricting lineage plasticity.
Fritsche K et al.·Clin Epigenetics
2022
Immunopharmacology of thymosin alpha1 and cytokine synergy.
Naylor PH et al.·Ann N Y Acad Sci
2007
Impact of novel polymorphisms related to cytotoxicity of cytarabine in the induction treatment of acute myeloid leukemia.
Megías-Vericat JE et al.·Pharmacogenet Genomics
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools