HOXA4: Homeobox A4 Gene
A key regulator of embryonic development and hematopoiesis
Gene Information Card
| Symbol | HOXA4 |
|---|---|
| Full Name | Homeobox A4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3201 ncbi.nlm.nih.gov/gene/3201 |
| Ensembl ID | ENSG00000197576 |
| UniProt ID | Q00056 |
| OMIM ID | 142953 |
| HGNC ID | 5106 |
| Aliases | HOX1D, HOX1 |
Description
HOXA4 (Homeobox A4) is a protein-coding gene that belongs to the homeobox family of transcription factors. It encodes a nuclear protein with a conserved homeodomain that binds to specific DNA sequences, regulating gene expression during embryonic morphogenesis, particularly in the anterior-posterior axis patterning. HOXA4 is also involved in hematopoiesis and has been implicated in various cancers, including leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Dysregulation of HOXA4 expression contributes to leukemogenesis through altered transcriptional programs in hematopoietic stem cells. | PMID: 23426363 |
| Colorectal cancer | HOXA4 promoter hypermethylation leads to reduced expression, associated with tumor progression. | PMID: 19351831 |
| Breast cancer | HOXA4 overexpression correlates with poor prognosis and may promote metastasis. | PMID: 25652252 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Bone marrow | 6.7 | Low |
| Small intestine | 5.9 | Low |
| Spleen | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line; moderate expression |
| HEK 293 | 8.1 | Embryonic kidney; low expression |
| MCF7 | 6.5 | Breast cancer; low expression |
| HepG2 | 4.3 | Liver cancer; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown effect |
| c.123C>T | Nonsense | Rare | Predicted loss of function |
| c.456_459del | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in HOXA4 are predicted to cause loss of function, potentially affecting development and increasing cancer risk.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for HOXA4.
Dominant Negative (DN)
No dominant-negative mutations have been described for HOXA4.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • anterior/posterior pattern specification |
| • embryonic skeletal system morphogenesis | • hematopoiesis |
Pathways
• HOX gene regulation during development
• Transcriptional misregulation in cancer
Protein Summary
The HOXA4 protein is a 284-amino acid transcription factor containing a homeodomain that mediates sequence-specific DNA binding. It localizes to the nucleus and regulates target genes involved in cell differentiation, proliferation, and patterning. Post-translational modifications such as phosphorylation may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA4 Knockout HEK293 Cell Line | EDJ-KQ4894 | Human | 3201 | Details Get a Quote |
| HOXA4 Knockout A-549 Cell Line | EDJ-KQ27710 | Human | 3201 | Details Get a Quote |
| HOXA4 Knockout HCT 116 Cell Line | EDJ-KQ27711 | Human | 3201 | Details Get a Quote |
| HOXA4 Knockout HeLa Cell Line | EDJ-KQ27712 | Human | 3201 | Details Get a Quote |
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