HOXA11: Homeobox A11 Gene
Key regulator of limb and urogenital development; mutations linked to radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) and congenital anomalies.
Gene Information Card
| Symbol | HOXA11 |
|---|---|
| Full Name | Homeobox A11 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3207 ncbi.nlm.nih.gov/gene/3207 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | P31270 |
| OMIM ID | 142958 |
| HGNC ID | 5101 |
| Aliases | HOX1I, HOX1@, RUSAT1 |
Description
HOXA11 is a member of the homeobox A cluster of transcription factors, critical for embryonic development. It regulates gene expression during limb bud formation, particularly the radius and ulna, and is essential for normal hematopoiesis and urogenital tract development. Mutations in HOXA11 cause radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT), a rare autosomal dominant disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) | Loss-of-function mutations in HOXA11 disrupt hematopoietic stem cell maintenance and limb patterning, leading to bone fusion and platelet deficiency. | ClinVar, OMIM #605432 |
| Congenital anomalies of kidney and urinary tract (CAKUT) | HOXA11 haploinsufficiency impairs ureteric bud branching and nephron formation. | OMIM, PubMed: 23453667 |
| Hand-foot-genital syndrome (HFGS) | Missense mutations in the homeodomain alter DNA binding, affecting limb and urogenital development. | OMIM #140000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Uterus | 8.7 | Medium |
| Bone marrow | 6.1 | Low |
| Testis | 4.5 | Low |
| Lung | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| K562 | 9.8 | Chronic myeloid leukemia line |
| MCF7 | 3.1 | Breast cancer line |
| HepG2 | 1.5 | Hepatocellular carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.617C>T (p.Thr206Met) | Missense | Rare | Reduces DNA-binding affinity; associated with RUSAT |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; RUSAT |
| c.832_833del (p.Leu278Glufs*12) | Frameshift | Rare | Premature truncation; loss of function; RUSAT |
| c.506G>A (p.Arg169Gln) | Missense | Rare | Impaired transactivation; HFGS |
Mutation functional classification
Loss of Function (LOF)
Most HOXA11 mutations (nonsense, frameshift, start loss) lead to haploinsufficiency or truncated protein, causing RUSAT and CAKUT.
Gain of Function (GOF)
No gain-of-function mutations reported in HOXA11.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Thr206Met) may act as dominant-negative by competing with wild-type protein for DNA binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• HOX gene regulation during limb development (KEGG: hsa05202)
• Transcriptional regulation by HOX proteins (WikiPathways: WP454)
Protein Summary
HOXA11 is a 313-amino acid transcription factor containing a conserved homeodomain that binds DNA as a monomer or heterodimer with PBX cofactors. It regulates target genes involved in cell proliferation, differentiation, and patterning during embryogenesis. The protein is predominantly nuclear and expressed in developing limbs, kidney, and hematopoietic tissues. Post-translational modifications include phosphorylation, which modulates its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA11 Knockout HEK293 Cell Line | EDJ-KQ2931 | Human | 3207 | Details Get a Quote |
| HOXA11 Knockout A-549 Cell Line | EDJ-KQ24042 | Human | 3207 | Details Get a Quote |
| HOXA11 Knockout HCT 116 Cell Line | EDJ-KQ24043 | Human | 3207 | Details Get a Quote |
| HOXA11 Knockout HeLa Cell Line | EDJ-KQ22674 | Human | 3207 | Details Get a Quote |
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