HOXD4 Homeobox D4 Gene
Key regulator of limb development and axial patterning
Gene Information Card
| Symbol | HOXD4 |
|---|---|
| Full Name | Homeobox D4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 3233 ncbi.nlm.nih.gov/gene/3233 |
| Ensembl ID | ENSG00000170166 |
| UniProt ID | P09016 |
| OMIM ID | 142981 |
| HGNC ID | 5130 |
| Aliases | HOX4D, HOX-4.2 |
Description
HOXD4 (Homeobox D4) is a protein-coding gene belonging to the homeobox family of transcription factors. It is part of the HOXD cluster located on chromosome 2q31.1 and plays a critical role in embryonic development, particularly in limb morphogenesis and axial skeleton patterning. The encoded protein contains a homeobox DNA-binding domain and regulates downstream target genes involved in cell differentiation and positional identity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb malformations (e.g., brachydactyly) | Altered HOXD4 expression disrupts limb bud patterning | OMIM, NCBI Gene |
| Vertebral anomalies | Misexpression affects somite segmentation and axial skeleton development | OMIM, NCBI Gene |
| Cancer (e.g., leukemia) | Dysregulation of HOXD4 contributes to oncogenic transformation | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 2.1 | Low |
| Lung | 1.8 | Low |
| Brain | 1.5 | Low |
| Testis | 1.2 | Low |
| Skin | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.5 | Embryonic kidney cell line |
| HeLa | 0.8 | Cervical cancer cell line |
| K562 | 2.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Altered protein function |
| c.100C>T | nonsense | <0.1% | Premature truncation |
| c.200_201del | frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not well documented; some missense variants may alter DNA-binding specificity.
Dominant Negative (DN)
Not reported for HOXD4.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • RNA polymerase II transcription regulatory region sequence-specific DNA binding | • anterior/posterior pattern specification |
| • embryonic skeletal system morphogenesis | • limb development |
Pathways
• HOX gene regulation in development
• Retinoic acid signaling pathway
• Wnt signaling pathway
Protein Summary
The HOXD4 protein is a 284-amino acid transcription factor with a conserved homeodomain that binds to specific DNA sequences to regulate gene expression. It is essential for proper limb and axial skeleton development, and its dysregulation is linked to congenital malformations and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXD4 Knockout HEK293 Cell Line | EDJ-KQ4922 | Human | 3233 | Details Get a Quote |
| HOXD4 Knockout HeLa Cell Line | EDJ-KQ53559 | Human | 3233 | Details Get a Quote |
| HOXD4 Knockout A-549 Cell Line | EDJ-KQ62027 | Human | 3233 | Details Get a Quote |
| HOXD4 Knockout HCT 116 Cell Line | EDJ-KQ70505 | Human | 3233 | Details Get a Quote |
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