HOXD11 Gene - Homeobox D11
Key regulator of limb development and congenital disorders
Gene Information Card
| Symbol | HOXD11 |
|---|---|
| Full Name | Homeobox D11 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 3237 ncbi.nlm.nih.gov/gene/3237 |
| Ensembl ID | ENSG00000128713 |
| UniProt ID | P31277 |
| OMIM ID | 142996 |
| HGNC ID | 5132 |
| Aliases | HOX4F, HOX4, Hox-4.6 |
Description
HOXD11 is a member of the homeobox D cluster of transcription factors, critical for anterior-posterior patterning during limb development. It regulates cell differentiation and proliferation in embryonic mesoderm. Mutations in HOXD11 are associated with congenital limb malformations, particularly synpolydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Synpolydactyly type II (SPD2) | Loss-of-function mutations disrupt HOXD11 DNA binding, impairing digit separation and joint formation | ClinVar, OMIM |
| Brachydactyly type E | Altered HOXD11 expression affects bone growth in hands and feet | OMIM |
| Limb malformations (unspecified) | Deletions or duplications in the HOXD cluster including HOXD11 | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Low |
| Bone marrow | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.8 | Not detected |
| Testis | 3.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression in embryonic kidney cells |
| HeLa | 2.1 | Low expression |
| K562 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.704G>A (p.Arg235Gln) | Missense | Rare | Reduced DNA binding; associated with SPD2 |
| c.701_703del (p.Phe234del) | Deletion | Rare | Loss of function; limb malformations |
| c.1A>G (p.Met1Val) | Start loss | Very rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion mutations impair HOXD11 transcriptional activity, leading to synpolydactyly.
Gain of Function (GOF)
Not reported in HOXD11.
Dominant Negative (DN)
Some missense variants may interfere with wild-type HOXD11 function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene regulation in limb development (Reactome: R-HSA-5617472)
• Transcriptional regulation by HOX proteins (KEGG: hsa04340)
Protein Summary
HOXD11 is a 330-amino acid homeodomain transcription factor. It binds DNA via a helix-turn-helix motif and regulates target genes involved in limb bud outgrowth and digit patterning. The protein is predominantly nuclear and expressed during embryogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXD11 Knockout HEK293 Cell Line | EDJ-KQ4925 | Human | 3237 | Details Get a Quote |
| HOXD11 Knockout A-549 Cell Line | EDJ-KQ27769 | Human | 3237 | Details Get a Quote |
| HOXD11 Knockout HeLa Cell Line | EDJ-KQ53561 | Human | 3237 | Details Get a Quote |
| HOXD11 Knockout HCT 116 Cell Line | EDJ-KQ70508 | Human | 3237 | Details Get a Quote |
