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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IRX5
iroquois homeobox 5
Chromosome 16 Β· 16q12.2
NCBI Gene: 10265Ensembl: ENSG00000176842.17HGNC: HGNC:14361UniProt: P78411
30PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindinggonad developmentembryonic cranial skeleton morphogenesisRNA polymerase II cis-regulatory region sequence-specific DNA bindingcraniofacial dysplasia - osteopenia syndromeCraniofacial dysplasia-osteopenia syndromeneurodegenerative diseaseAbnormality of the skeletal system
✦AI Summary

IRX5 is a transcription factor that regulates energy homeostasis and skeletal development through multiple tissue-specific mechanisms. In adipose tissue, IRX5 suppresses mitochondrial thermogenesis by inhibiting beige adipocyte differentiation and promoting white adipocyte fate 1. Elevated IRX5 expression shifts energy metabolism toward storage rather than dissipation, with IRX5 knockdown in adipocytes increasing thermogenesis sevenfold 1. In bone, IRX5 functions in a dosage-dependent manner with IRX3 to promote osteogenesis while inhibiting adipogenesis in bone marrow 2. Mechanistically, IRX5 suppresses osteogenic differentiation by inhibiting mTOR-mediated ribosomal translation and mitochondrial oxidative phosphorylation 3. In the hypothalamus, IRX5 regulates postnatal neurogenesis in neural stem cells and modulates leptin sensing and feeding behavior 4, with IRX5 knockout mice showing increased basal metabolic rate and improved hypothalamic leptin response 5. IRX5 is a key mediator of FTO-associated obesity risk, where common variants regulate IRX5 expression across adipose and brain tissues during developmental windows 67. In Wilms tumor development, IRX5 promotes early proliferation in the nephrogenic blastema, distinguishing its function from IRX3 8.

Sources cited
1
IRX5 overexpression suppresses mitochondrial thermogenesis in adipocytes and promotes white adipocyte fate; IRX5 knockdown restores thermogenesis
PMID: 26287746
2
IRX3 and IRX5 function in dosage-dependent manner to promote osteogenesis and inhibit adipogenesis in bone marrow
PMID: 32662900
3
IRX5 suppresses osteogenic differentiation by inhibiting mTOR-mediated ribosomal translation and mitochondrial function
PMID: 38666481
4
IRX3 and IRX5 regulate neurogenic properties of radial glia-like neural stem cells in postnatal hypothalamus and energy homeostasis
PMID: 34795556
5
IRX5 knockout mice are resistant to diet-induced obesity with increased basal metabolic rate and improved hypothalamic leptin response
PMID: 36115924
6
FTO obesity variants influence distal IRX3 and IRX5 gene expression, linking IRX5 to obesity genetics
PMID: 33006084
7
Multiple FTO variants regulate IRX3 and IRX5 enhancers across adipose and brain tissues with temporally restricted effects
PMID: 34083488
8
IRX5 is essential for nephrogenesis and is activated early in Wilms tumor blastema during kidney development
PMID: 30246301
Disease Associationsβ“˜21
craniofacial dysplasia - osteopenia syndromeOpen Targets
0.75Strong
Craniofacial dysplasia-osteopenia syndromeOpen Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.51Moderate
androgenetic alopeciaOpen Targets
0.39Weak
chromosome 16q12 duplication syndromeOpen Targets
0.33Weak
nervous system diseaseOpen Targets
0.29Weak
prostate carcinomaOpen Targets
0.27Weak
otosclerosisOpen Targets
0.27Weak
breast carcinomaOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.24Weak
Brugada syndromeOpen Targets
0.22Weak
medical procedureOpen Targets
0.20Weak
breast cancerOpen Targets
0.20Weak
aneurysmOpen Targets
0.20Weak
luminal A breast carcinomaOpen Targets
0.20Weak
smoking initiationOpen Targets
0.19Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
breast neoplasmOpen Targets
0.19Weak
Hamamy syndromeUniProt
Pathogenic Variants4
NM_005853.6(IRX5):c.503G>A (p.Arg168His)Pathogenic
Craniofacial dysplasia - osteopenia syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 168
NM_005853.6(IRX5):c.1362_1368delinsGT (p.Lys455fs)Pathogenic
Craniofacial dysplasia - osteopenia syndrome
β˜†β˜†β˜†β˜†2016β†’ Residue 455
NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)Pathogenic
Craniofacial dysplasia - osteopenia syndrome
β˜†β˜†β˜†β˜†2012β†’ Residue 166
NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)Pathogenic
Craniofacial dysplasia - osteopenia syndrome
β˜†β˜†β˜†β˜†2012β†’ Residue 150
View on ClinVar β†—
Related Genes
KCND2Protein interaction88%SMYD1Protein interaction74%HAND2Protein interaction73%IRX3Protein interaction60%IRX6Shared pathway50%IRX2Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Brain
43%
Lung
38%
Ovary
4%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
IRX5KCND2SMYD1HAND2IRX3IRX6IRX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P78411
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.13–0.41]
RankingsWhere IRX5 stands among ~20K protein-coding genes
  • #11,950of 20,598
    Most Researched30
  • #3,832of 5,498
    Most Pathogenic Variants4
  • #2,146of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedIRX5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Determinants of Childhood Obesity.
PMID: 33006084
Mol Diagn Ther Β· 2020
1.00
2
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
PMID: 26287746
N Engl J Med Β· 2015
0.90
3
IRX3 and IRX5 Inhibit Adipogenic Differentiation of Hypertrophic Chondrocytes and Promote Osteogenesis.
PMID: 32662900
J Bone Miner Res Β· 2020
0.80
4
PMID: 34795556
Front Neurosci Β· 2021
0.70
5
IRX5 suppresses osteogenic differentiation of hBMSCs by inhibiting protein synthesis.
PMID: 38666481
J Cell Physiol Β· 2024
0.60