HOXA10: Homeobox A10 Gene
Key regulator of embryonic development, hematopoiesis, and endometrial receptivity
Gene Information Card
| Symbol | HOXA10 |
|---|---|
| Full Name | Homeobox A10 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3206 ncbi.nlm.nih.gov/gene/3206 |
| Ensembl ID | ENSG00000153815 |
| UniProt ID | P31260 |
| OMIM ID | 142957 |
| HGNC ID | 5100 |
| Aliases | HOX1.8, PLXN1, HOX1H |
Description
HOXA10 (Homeobox A10) is a transcription factor belonging to the HOX gene family, which encodes highly conserved homeodomain-containing proteins that regulate morphogenesis and differentiation. HOXA10 is essential for embryonic development, particularly of the reproductive tract, and plays critical roles in hematopoiesis, endometrial receptivity, and implantation. Aberrant expression or mutation of HOXA10 is implicated in Müllerian duct anomalies, infertility, and hematologic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Müllerian aplasia (MURCS association) | Loss-of-function variants disrupt HOXA10-mediated patterning of the female reproductive tract, leading to uterine and vaginal agenesis. | OMIM #601076; PMID: 28166811 |
| Acute myeloid leukemia (AML) | HOXA10 overexpression via NUP98-HOXA10 fusion or epigenetic dysregulation blocks myeloid differentiation and promotes leukemogenesis. | COSMIC; PMID: 10521316 |
| Endometriosis-associated infertility | Reduced HOXA10 expression in endometrium impairs endometrial receptivity and implantation. | PMID: 15684046 |
| Premature ovarian failure (POF) | HOXA10 variants may disrupt ovarian development and function. | OMIM #311360; PMID: 19361780 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Endometrium | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Kidney | 6.1 | Low |
| Ovary | 4.7 | Low |
| Uterus | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 18.4 | High expression; associated with myeloid differentiation block |
| MCF7 (breast cancer) | 3.2 | Low expression |
| HeLa (cervical cancer) | 5.1 | Low expression |
| HUVEC (endothelial) | 2.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.700C>T (p.Arg234*) | Nonsense | Rare | Loss of function; associated with Müllerian aplasia |
| c.1072G>A (p.Gly358Arg) | Missense | Rare | Loss of DNA-binding; reported in POF |
| NUP98-HOXA10 fusion | Chromosomal translocation | Recurrent in AML | Gain of function; constitutive activation of HOXA10 target genes |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants (e.g., p.Arg234*, p.Gly358Arg) that impair DNA binding or protein stability, leading to developmental defects (Müllerian aplasia, POF).
Gain of Function (GOF)
NUP98-HOXA10 fusion protein drives aberrant transcriptional activation, blocking myeloid differentiation in AML.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type HOXA10 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• HOX gene regulation during embryogenesis (KEGG: hsa04340)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
Protein Summary
HOXA10 is a 393-amino acid homeodomain transcription factor that binds DNA via a helix-turn-helix motif. It regulates target genes involved in cell proliferation, differentiation, and pattern formation. The protein is predominantly nuclear and interacts with PBX and MEIS cofactors to modulate transcriptional activity. Post-translational modifications include phosphorylation and ubiquitination, affecting stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA10 Knockout HEK293 Cell Line | EDJ-KQ4907 | Human | 3206 | Details Get a Quote |
| HOXA10 Knockout A-549 Cell Line | EDJ-KQ27736 | Human | 3206 | Details Get a Quote |
| HOXA10 Knockout HCT 116 Cell Line | EDJ-KQ27737 | Human | 3206 | Details Get a Quote |
| HOXA10 Knockout HeLa Cell Line | EDJ-KQ27738 | Human | 3206 | Details Get a Quote |
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