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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ALX3
ALX homeobox 3
Chromosome 1 Β· 1p13.3
NCBI Gene: 257Ensembl: ENSG00000156150.9HGNC: HGNC:449UniProt: O95076
20PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II transcription regulatory region sequence-specific DNA bindingneuron developmentfrontorhinyfrontonasal dysplasiaAbnormality of the skeletal systemopen-angle glaucoma
✦AI Summary

ALX3 is a paired-class homeodomain transcription factor that functions as a developmental regulator with context-specific roles in craniofacial and pancreatic development 1. As a sequence-specific DNA-binding transcription factor, ALX3 exhibits selective monomeric and dimeric binding modes depending on target site sequences and cellular context, with transactivation requiring proline-rich domains amino-terminal to its homeodomain 2. Its promoter activity is differentially regulated by Twist1, USF1, and USF2 in mesenchymal versus pancreatic cells, reflecting tissue-specific transcriptional control 3. During development, ALX3 plays critical roles in anterior cranial neural crest (aCNC) migration and craniofacial morphogenesis; loss-of-function mutations in ALX1/ALX3 cause frontonasal dysplasia with ocular anterior segment malformations and aberrant hyaloid vasculature 4. ALX3 also participates in hair follicle niche regulation through Hedgehog signaling-activated transcriptional networks that control mesenchymal-epithelial interactions 5. Clinically, ALX3 promoter hypermethylation occurs in neuroblastoma and lung cancer, with methylation serving as a potential biomarker; methylation correlates with gene silencing in neuroblastoma but paradoxically associates with elevated expression in lung adenocarcinomas 67. These findings establish ALX3 as a conserved developmental regulator with tumor-associated epigenetic alterations.

Sources cited
1
ALX3 is part of transcriptional regulatory networks activated in dermal papilla fibroblasts by Hedgehog signaling to regulate hair morphogenesis
PMID: 35777353
2
ALX3 is hypermethylated in neuroblastoma cell lines; methylation correlates with gene repression and preferential methylation in advanced-stage tumors
PMID: 11807986
3
ALX3 promoter is hypermethylated in lung cancer samples and serves as a potential cancer biomarker
PMID: 37351969
4
ALX3 is a conserved vertebrate homeobox gene implicated in craniofacial development that has been independently lost in some vertebrate lineages
PMID: 21740507
5
ALX1 and ALX3 regulate anterior cranial neural crest migration and are required for ocular anterior segment, neurocranium formation, and vascular development
PMID: 35142342
6
ALX3 contains proline-rich domains necessary for transactivation and exhibits cell-specific, selective monomeric binding to TAAT-containing sites in natural gene promoters
PMID: 15226305
7
ALX3 promoter activity is differentially regulated by Twist1, USF1, and USF2 in mesenchymal versus pancreatic cells through E-box regulatory elements
PMID: 23181698
8
ALX3 ranks among globally central genes in human and mouse co-expression networks and is associated with disease-related phenotypes
PMID: 29161290
Disease Associationsβ“˜21
frontorhinyOpen Targets
0.79Strong
frontonasal dysplasiaOpen Targets
0.69Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
open-angle glaucomaOpen Targets
0.43Moderate
liver diseaseOpen Targets
0.33Weak
humerus fractureOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
glaucomaOpen Targets
0.19Weak
MODYOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.08Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.08Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.07Suggestive
exercise-induced hyperinsulinismOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.07Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Frontonasal dysplasia 1UniProt
Pathogenic Variants10
NM_006492.3(ALX3):c.364C>T (p.Gln122Ter)Pathogenic
Frontorhiny
β˜…β˜†β˜†β˜†2024β†’ Residue 122
NM_006492.3(ALX3):c.553C>T (p.Gln185Ter)Pathogenic
Frontorhiny
β˜…β˜†β˜†β˜†2023β†’ Residue 185
NM_006492.3(ALX3):c.592C>T (p.Gln198Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 198
NM_006492.3(ALX3):c.736_737del (p.Leu246fs)Likely pathogenic
Frontorhiny
β˜…β˜†β˜†β˜†2016β†’ Residue 246
NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter)Pathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009β†’ Residue 181
NM_006492.3(ALX3):c.578_581del (p.Thr193fs)Pathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009β†’ Residue 193
NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)Pathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009β†’ Residue 196
NM_006492.3(ALX3):c.502C>G (p.Leu168Val)Pathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009β†’ Residue 168
NM_006492.3(ALX3):c.608A>G (p.Asn203Ser)Pathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009β†’ Residue 203
NM_006492.3(ALX3):c.595-2A>TPathogenic
Frontorhiny
β˜†β˜†β˜†β˜†2009
View on ClinVar β†—
Related Genes
DRGXShared pathway100%ARXShared pathway100%ISXShared pathway100%UBL4BProtein interaction93%SLC6A17Protein interaction84%MRTO4Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Heart
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ALX3DRGXARXISXUBL4BSLC6A17MRTO4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95076
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.05]
RankingsWhere ALX3 stands among ~20K protein-coding genes
  • #14,099of 20,598
    Most Researched20
  • #2,897of 5,498
    Most Pathogenic Variants10
  • #10,526of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedALX3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state.
PMID: 35777353
Dev Cell Β· 2022
1.00
2
Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma.
PMID: 11807986
Genes Chromosomes Cancer Β· 2002
0.90
3
Identification of
PMID: 37351969
Anticancer Res Β· 2023
0.80
4
Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.
PMID: 21740507
Evol Dev Β· 2011
0.70
5
Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye.
PMID: 35142342
Biol Open Β· 2022
0.60