DUXA: Double Homeobox A
A homeobox transcription factor with roles in early embryonic development and cancer
Gene Information Card
| Symbol | DUXA |
|---|---|
| Full Name | Double Homeobox A |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 503835 ncbi.nlm.nih.gov/gene/503835 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | Q6P1J9 |
| OMIM ID | 611168 |
| HGNC ID | 26755 |
| Aliases | DUX, DUX1, double homeobox, double homeobox A |
Description
DUXA (Double Homeobox A) is a protein-coding gene located on chromosome 19q13.43. It encodes a transcription factor containing two homeobox domains, which is involved in early embryonic development, particularly in the regulation of zygotic genome activation. DUXA is expressed in the cleavage-stage embryo and is also aberrantly expressed in certain cancers, where it may contribute to oncogenesis by activating repetitive elements and promoting genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rhabdomyosarcoma | DUXA overexpression drives oncogenic transformation by activating DUX4 and other developmental genes. | PMID: 31006513 |
| Ewing sarcoma | DUXA fusion with EWSR1 (EWSR1-DUXA) identified in rare cases, leading to aberrant transcriptional activation. | PMID: 31564432 |
| Facioscapulohumeral muscular dystrophy (FSHD) | DUXA is a homolog of DUX4; its expression in muscle cells may contribute to FSHD pathology via similar mechanisms. | PMID: 25466847 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Skeletal Muscle | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH30 (rhabdomyosarcoma) | 12.5 | High expression; associated with oncogenic activity |
| A673 (Ewing sarcoma) | 0.2 | Low; EWSR1-DUXA fusion positive lines show higher expression |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| EWSR1-DUXA fusion | Gene fusion | Rare | Oncogenic; creates chimeric transcription factor |
| DUXA amplification | Copy number gain | <1% in sarcomas | Increased expression; potential driver |
Mutation functional classification
Loss of Function (LOF)
Not reported in germline; likely tolerated due to functional redundancy with DUX4.
Gain of Function (GOF)
EWSR1-DUXA fusion results in constitutive activation of downstream targets.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Zygotic genome activation
• Developmental biology (homeobox gene network)
Protein Summary
The DUXA protein (UniProt Q6P1J9) contains two homeobox domains characteristic of DNA-binding transcription factors. It is 250 amino acids long and localizes to the nucleus. DUXA is a homolog of DUX4 and is involved in early embryonic gene activation. In cancer, aberrant expression or fusion with EWSR1 leads to oncogenic transcriptional programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUXA Knockout HCT 116 Cell Line | EDJ-KQ77322 | Human | 503835 | Details Get a Quote |
| DUXA Knockout A-549 Cell Line | EDJ-KQ68964 | Human | 503835 | Details Get a Quote |
| DUXA Knockout HeLa Cell Line | EDJ-KQ60494 | Human | 503835 | Details Get a Quote |
| DUXA Knockout HEK293 Cell Line | EDJ-KQ13230 | Human | 503835 | Details Get a Quote |
