CDX4: A Key Regulator of Hematopoiesis and Posterior Development
Comprehensive genomic and functional analysis of the CDX4 homeobox transcription factor gene
Gene Information Card
| Symbol | CDX4 |
|---|---|
| Full Name | caudal type homeobox 4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.2 |
| NCBI Gene ID | 1046 ncbi.nlm.nih.gov/gene/1046 |
| Ensembl ID | ENSG00000131236 |
| UniProt ID | O14627 |
| OMIM ID | 300025 |
| HGNC ID | 1808 |
| Aliases | Cdx-4, caudal-type homeobox 4 |
Description
CDX4 (caudal type homeobox 4) is a protein-coding gene located on the X chromosome. It encodes a homeobox transcription factor that plays a critical role in posterior body patterning during embryonic development and in the regulation of hematopoiesis. CDX4 is a member of the caudal-related homeobox gene family, which also includes CDX1 and CDX2. The protein binds to DNA as a monomer and activates target genes involved in cell proliferation and differentiation. CDX4 is essential for the maintenance of hematopoietic stem cells and is implicated in leukemogenesis when aberrantly expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Overexpression of CDX4 disrupts normal hematopoietic differentiation, promoting leukemic transformation. | PMID: 16912225; COSMIC |
| Myelodysplastic Syndromes (MDS) | Dysregulation of CDX4 expression contributes to impaired hematopoiesis and disease progression. | PMID: 19164599 |
| Colorectal Cancer | CDX4 is involved in intestinal development; altered expression may contribute to tumorigenesis. | PMID: 22198284 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Small Intestine | 8.3 | Low |
| Colon | 6.1 | Low |
| Placenta | 4.7 | Low |
| Spleen | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HL-60 (leukemia) | 11.8 | Moderate expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical cancer) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; functional impact unknown |
| c.124C>T (p.Arg42Cys) | Missense | <0.1% | May alter DNA-binding affinity |
| c.256G>A (p.Glu86Lys) | Missense | <0.1% | Reported in AML; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CDX4 are rare and may impair hematopoietic stem cell maintenance, but specific pathogenic variants are not well characterized.
Gain of Function (GOF)
Gain-of-function, typically through overexpression, is associated with leukemogenesis, particularly in AML.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CDX4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic stem cell differentiation (Reactome: R-HSA-1266738)
• Wnt signaling pathway (KEGG: hsa04310)
• Homeobox gene regulation in development (NCBI Biosystems: BSID:106833)
Protein Summary
The CDX4 protein is a 284-amino acid homeobox transcription factor that localizes to the nucleus. It contains a conserved homeodomain (amino acids 50-109) responsible for DNA binding. CDX4 regulates target genes involved in cell proliferation, differentiation, and posterior body patterning. In hematopoiesis, CDX4 is critical for the self-renewal of hematopoietic stem cells. Aberrant expression of CDX4, particularly in the bone marrow, is linked to acute myeloid leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDX4 Knockout HEK293 Cell Line | EDJ-KQ4250 | Human | 1046 | Details Get a Quote |
| CDX4 Knockout HeLa Cell Line | EDJ-KQ52871 | Human | 1046 | Details Get a Quote |
| CDX4 Knockout A-549 Cell Line | EDJ-KQ61342 | Human | 1046 | Details Get a Quote |
| CDX4 Knockout HCT 116 Cell Line | EDJ-KQ69836 | Human | 1046 | Details Get a Quote |
