HOXA3: Homeobox A3 Gene
Key regulator of embryonic development and cell differentiation
Gene Information Card
| Symbol | HOXA3 |
|---|---|
| Full Name | Homeobox A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3200 ncbi.nlm.nih.gov/gene/3200 |
| Ensembl ID | ENSG00000105997 |
| UniProt ID | O43365 |
| OMIM ID | 142954 |
| HGNC ID | 5106 |
| Aliases | HOX1, HOX1E |
Description
HOXA3 (Homeobox A3) is a protein-coding gene that belongs to the homeobox family of transcription factors. It plays a critical role in embryonic development, particularly in the formation of the pharyngeal arches, cardiovascular system, and neural crest cell migration. HOXA3 regulates gene expression by binding to DNA via its homeodomain and is involved in cell differentiation, proliferation, and apoptosis. Dysregulation of HOXA3 is associated with congenital disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart defects | Altered HOXA3 expression disrupts pharyngeal arch development and cardiac outflow tract formation | PMID: 23505220 |
| Acute myeloid leukemia (AML) | HOXA3 overexpression contributes to leukemogenesis by blocking differentiation | PMID: 29142275 |
| Breast cancer | HOXA3 promoter hypermethylation leads to reduced expression, promoting metastasis | PMID: 25636844 |
| Colorectal cancer | HOXA3 downregulation via methylation correlates with poor prognosis | PMID: 27121325 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.7 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 5.4 | Low expression |
| K562 (leukemia) | 20.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Altered DNA binding affinity |
| c.487_489del (p.Lys163del) | Deletion | <0.01% | In-frame deletion, reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the homeodomain or cause premature truncation lead to loss of DNA binding and transcriptional activation.
Gain of Function (GOF)
Not well documented; overexpression in AML suggests potential oncogenic gain-of-function via aberrant activation of target genes.
Dominant Negative (DN)
Not reported for HOXA3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene regulation in development (Reactome: R-HSA-5619507)
• Transcriptional regulation by HOX proteins (KEGG: hsa04340)
• Wnt signaling pathway (KEGG: hsa04310)
Protein Summary
HOXA3 encodes a 41.5 kDa homeodomain-containing transcription factor. The protein localizes to the nucleus and binds DNA as a monomer or heterodimer with PBX cofactors. It is essential for pharyngeal arch patterning, cardiac outflow tract septation, and thymus/parathyroid development. Post-translational modifications include phosphorylation, which modulates its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA3 Knockout HEK293 Cell Line | EDJ-KQ4893 | Human | 3200 | Details Get a Quote |
| HOXA3 Knockout A-549 Cell Line | EDJ-KQ26491 | Human | 3200 | Details Get a Quote |
| HOXA3 Knockout HCT 116 Cell Line | EDJ-KQ27709 | Human | 3200 | Details Get a Quote |
| HOXA3 Knockout HeLa Cell Line | EDJ-KQ53547 | Human | 3200 | Details Get a Quote |
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