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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IRX3
iroquois homeobox 3
Chromosome 16 · 16q12.2
NCBI Gene: 79191Ensembl: ENSG00000177508.12HGNC: HGNC:14360UniProt: P78415
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription repressor activity, RNA polymerase II-specificalcohol drinkingHallux valgusAbnormality of the skeletal systemplacenta praevia
✦AI Summary

IRX3 (iroquois homeobox 3) is a transcription factor with critical roles in energy metabolism, neural development, and cardiac conduction system regulation. In energy homeostasis, IRX3 acts as a key mediator of obesity risk through the FTO locus, where genetic variants lead to increased IRX3 expression during adipocyte differentiation 1. This elevation causes a developmental shift from energy-dissipating beige adipocytes to energy-storing white adipocytes, reducing mitochondrial thermogenesis and increasing lipid storage 1. IRX3 regulates this process by modulating SUMOylation pathways and chr16 remodeling, with over 300 binding sites identified at genes involved in these processes 2. In neural development, IRX3 functions as a genetic determinant regulating neurogenic properties of radial glia-like neural stem cells in postnatal hypothalamic neurogenesis, contributing to energy homeostasis regulation 3. Additionally, IRX3 plays a role in cardiac conduction system development, where it works with TBX3 to establish region-specific gene regulatory networks across different cardiac conduction components 4. Recent evidence also implicates IRX3 in glioblastoma progression through activation of Wnt/β-catenin signaling 5, highlighting its diverse regulatory functions across multiple physiological systems.

Sources cited
1
IRX3 mediates obesity risk through FTO locus variants, causing shift from beige to white adipocytes and reduced thermogenesis
PMID: 26287746
2
IRX3 has over 300 binding sites at genes involved in SUMOylation and chromatin remodeling
PMID: 40769964
3
IRX3 regulates neurogenic properties of radial glia-like neural stem cells in postnatal hypothalamic neurogenesis
PMID: 34795556
4
IRX3 works with TBX3 to establish region-specific gene regulatory networks in cardiac conduction system
PMID: 39095365
5
IRX3 promotes glioblastoma progression through Wnt/β-catenin pathway activation
PMID: 41436436
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.39Weak
Hallux valgusOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.31Weak
thyroiditisOpen Targets
0.31Weak
portal hypertensionOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
color vision disorderOpen Targets
0.28Weak
Brugada syndromeOpen Targets
0.28Weak
obesityOpen Targets
0.28Weak
heart failureOpen Targets
0.25Weak
Barrett's esophagusOpen Targets
0.25Weak
prostate carcinomaOpen Targets
0.25Weak
response to corticosteroidOpen Targets
0.21Weak
overnutritionOpen Targets
0.19Weak
abscessOpen Targets
0.19Weak
glomerulonephritisOpen Targets
0.19Weak
cellulitisOpen Targets
0.18Weak
narcolepsyOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FTOProtein interaction81%AKAP11Protein interaction73%NKX2-2Protein interaction73%OLIG2Protein interaction73%SIX3Protein interaction70%IRX5Protein interaction60%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Lung
90%
Liver
7%
Ovary
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
IRX3FTOAKAP11NKX2-2OLIG2SIX3IRX5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P78415
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.47–1.00]
RankingsWhere IRX3 stands among ~20K protein-coding genes
  • #10,989of 20,598
    Most Researched35
  • #9,712of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedIRX3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Determinants of Childhood Obesity.
PMID: 33006084
Mol Diagn Ther · 2020
1.00
2
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
PMID: 26287746
N Engl J Med · 2015
0.90
3
IRX3 controls a SUMOylation-dependent differentiation switch in adipocyte precursor cells.
PMID: 40769964
Nat Commun · 2025
0.80
4
PMID: 34795556
Front Neurosci · 2021
0.70
5
Hypothalamic IRX3: A New Player in the Development of Obesity.
PMID: 32035736
Trends Endocrinol Metab · 2020
0.60