HOXD10 Gene - Homeobox D10
Key regulator of limb development and congenital disorders
Gene Information Card
| Symbol | HOXD10 |
|---|---|
| Full Name | Homeobox D10 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 3236 ncbi.nlm.nih.gov/gene/3236 |
| Ensembl ID | ENSG00000128710 |
| UniProt ID | P28358 |
| OMIM ID | 142984 |
| HGNC ID | 5133 |
| Aliases | HOX4D, HOX4E |
Description
HOXD10 (homeobox D10) is a protein-coding gene that belongs to the homeobox family of transcription factors. It plays a critical role in limb morphogenesis and the specification of positional identity along the proximal-distal axis during embryonic development. Mutations in HOXD10 are associated with congenital vertical talus and Charcot-Marie-Tooth disease type 2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital vertical talus | Missense mutations disrupt DNA binding and transcriptional activity | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 2 | Missense mutations impair protein function leading to peripheral neuropathy | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 8.2 | Low |
| Heart | 6.5 | Low |
| Kidney | 4.1 | Not detected |
| Liver | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Not detected |
| K562 | 0.3 | Not detected |
| HUVEC | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.674A>G (p.Asn225Ser) | Missense | Rare | Loss of DNA-binding ability; associated with congenital vertical talus |
| c.674A>T (p.Asn225Ile) | Missense | Rare | Loss of function; associated with Charcot-Marie-Tooth disease type 2 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Asn225Ser) reduce or abolish DNA binding and transcriptional activation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type HOXD10 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• HOX gene regulation (Reactome: R-HSA-5619507)
Protein Summary
The HOXD10 protein is a 397-amino acid transcription factor containing a homeobox DNA-binding domain. It regulates gene expression during limb development, particularly in the formation of the lower leg and foot. Mutations in the homeodomain disrupt its ability to bind target DNA sequences, leading to developmental abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXD10 Knockout HEK293 Cell Line | EDJ-KQ2403 | Human | 3236 | Details Get a Quote |
| HOXD10 Knockout A-549 Cell Line | EDJ-KQ22893 | Human | 3236 | Details Get a Quote |
| HOXD10 Knockout HeLa Cell Line | EDJ-KQ53560 | Human | 3236 | Details Get a Quote |
| HOXD10 Knockout HCT 116 Cell Line | EDJ-KQ70507 | Human | 3236 | Details Get a Quote |
