HOXA7: Homeobox A7 Gene
Key regulator in embryonic development and oncogenesis
Gene Information Card
| Symbol | HOXA7 |
|---|---|
| Full Name | Homeobox A7 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3204 ncbi.nlm.nih.gov/gene/3204 |
| Ensembl ID | ENSG00000122592 |
| UniProt ID | P31268 |
| OMIM ID | 142955 |
| HGNC ID | 5108 |
| Aliases | HOX1A, ANTP, HOX1 |
Description
HOXA7 (Homeobox A7) is a protein-coding gene belonging to the homeobox family of transcription factors. It encodes a DNA-binding protein that regulates gene expression, cell differentiation, and morphogenesis during embryonic development. HOXA7 is part of the A cluster on chromosome 7 and plays a role in anterior-posterior patterning. Aberrant expression and mutations are implicated in various cancers, including leukemia, lung, and ovarian cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | HOXA7 overexpression via MLL fusions or NPM1 mutations drives leukemogenesis | COSMIC, ClinVar |
| Lung cancer | HOXA7 upregulation promotes cell proliferation and invasion | COSMIC, NCBI |
| Ovarian cancer | HOXA7 overexpression associated with poor prognosis and chemoresistance | COSMIC, NCBI |
| Breast cancer | HOXA7 dysregulation linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Ovary | 8.3 | Medium |
| Bone marrow | 6.7 | Low |
| Kidney | 5.2 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression |
| MCF7 (breast cancer) | 7.8 | Medium expression |
| K562 (leukemia) | 22.1 | Very high expression |
| OVCAR3 (ovarian cancer) | 11.4 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Altered DNA binding |
| c.200_201insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of HOXA7 function, observed in rare cases.
Gain of Function (GOF)
Overexpression and copy number gains in leukemia and solid tumors act as gain-of-function.
Dominant Negative (DN)
Not reported for HOXA7.
View complete mutation data:
Gene Ontology (GO)
Pathways
• HOX gene regulation in development (Reactome: R-HSA-5619507)
• Transcriptional regulation by HOX proteins (Reactome: R-HSA-5619507)
• Acute myeloid leukemia signaling (KEGG: hsa05221)
Protein Summary
HOXA7 is a 232-amino acid homeodomain-containing transcription factor. It binds DNA via a helix-turn-helix motif and regulates target genes involved in cell identity and proliferation. The protein is predominantly nuclear and interacts with PBX and MEIS cofactors to modulate transcriptional activity. Post-translational modifications include phosphorylation, which influences stability and DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA7 Knockout HEK293 Cell Line | EDJ-KQ4895 | Human | 3204 | Details Get a Quote |
| HOXA7 Knockout HeLa Cell Line | EDJ-KQ26498 | Human | 3204 | Details Get a Quote |
| HOXA7 Knockout A-549 Cell Line | EDJ-KQ27713 | Human | 3204 | Details Get a Quote |
| HOXA7 Knockout HCT 116 Cell Line | EDJ-KQ27714 | Human | 3204 | Details Get a Quote |