HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DUXA
double homeobox A
Chromosome 19 · 19q13.43
NCBI Gene: 503835Ensembl: ENSG00000258873.3HGNC: HGNC:32179UniProt: A6NLW8
5PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ 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 bindingregulation of transcription by RNA polymerase IIDupuytren ContractureAbnormality of the skeletal systemfasciitisfibroblastic disorder
✦AI Summary

DUXA is a transcription factor containing a double homeobox DNA-binding domain that functions primarily as a transcriptional repressor 1. Unlike its paralog DUX4, DUXA lacks intrinsic transcriptional activation capacity but shares substantial DNA-binding overlap with DUX4 on target genes including zygotic genome activation (ZGA) genes and long terminal repeat elements 12. DUXA acts as a competitive inhibitor of DUX4, antagonizing DUX4 activity on shared targets including in facioscapulohumeral muscular dystrophy (FSHD) patient cells 12. Since DUXA is itself a DUX4 target gene, this antagonism creates a feedback mechanism that constrains the temporal window of DUX4 activity 12. In FSHD myotubes, DUXA is more widely expressed than DUX4 and can maintain target gene expression independently, particularly in late differentiation stages, suggesting it sustains a self-perpetuating network of gene dysregulation after initial DUX4 activation 34. DUXA is transiently expressed during normal preimplantation embryonic development 5 and its dysregulation has been implicated in early embryonic arrest 6. Additionally, DNA methylation at the DUXA locus may mediate associations between prenatal endocrine-disrupting chemical exposure and childhood obesity 7.

Sources cited
1
DUXA is a transcriptional repressor lacking activation potential that competitively antagonizes DUX4 activity on target genes through DNA binding overlap, creating feedback inhibition of DUX4
PMID: 36711898
2
DUXA is transcriptionally inactive but has DNA binding overlap with DUX4 and antagonizes DUX4 activity on target genes including in FSHD patient cells through competitive inhibition
PMID: 37744032
3
DUXA is more widely expressed than DUX4 in FSHD myotubes, can maintain target gene expression independently, and can sustain FSHD-induced gene expression in a self-sustaining network
PMID: 32365093
4
DUXA depletion represses DUX4 target genes like KDM4E in later differentiation stages, indicating DUXA contributes to maintenance of downstream gene expression
PMID: 33502067
5
DUXA is transcribed during human preimplantation development as a PRD-like homeobox gene
PMID: 26360614
6
DUXA is implicated as a key gene involved in embryonic genome activation and early embryonic arrest
PMID: 39325344
7
DNA methylation at the DUXA locus mediates associations between prenatal endocrine-disrupting chemical exposure and childhood obesity
PMID: 38986426
Disease Associationsⓘ16
Dupuytren ContractureOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
fasciitisOpen Targets
0.27Weak
fibroblastic disorderOpen Targets
0.25Weak
Palmar FibromatosisOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.21Weak
lumbar disc herniationOpen Targets
0.20Weak
trauma complicationOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
facioscapulohumeral muscular dystrophyOpen Targets
0.01Suggestive
dentin dysplasiaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
corneal dystrophyOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.00Suggestive
rhabdomyosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DUXBCo-mentioned in literature75%LEUTXProtein interaction73%ARGFXProtein interaction61%TPRX1Protein interaction58%DPRXCo-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DUXADUXBLEUTXARGFXTPRX1DPRX
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NLW8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.61–1.18]
RankingsWhere DUXA stands among ~20K protein-coding genes
  • #18,320of 20,598
    Most Researched5
  • #12,383of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedDUXA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein.
PMID: 36711898
bioRxiv · 2023
1.00
2
Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein.
PMID: 37744032
iScience · 2023
0.90
3
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
PMID: 32365093
PLoS Genet · 2020
0.80
4
Prenatal EDC exposure, DNA Methylation, and early childhood growth: A prospective birth cohort study.
PMID: 38986426
Environ Int · 2024
0.70
5
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.
PMID: 39325344
J Assist Reprod Genet · 2024
0.60