HOXC4 Homeobox C4 Gene
Key regulator of hematopoietic and skeletal development
Gene Information Card
| Symbol | HOXC4 |
|---|---|
| Full Name | Homeobox C4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3221 ncbi.nlm.nih.gov/gene/3221 |
| Ensembl ID | ENSG00000198353 |
| UniProt ID | P09017 |
| OMIM ID | 142974 |
| HGNC ID | 4986 |
| Aliases | HOX3E, HOX3, CP19 |
Description
HOXC4 is a member of the HOX gene family, which encodes transcription factors critical for embryonic development, particularly in the anterior-posterior axis patterning. HOXC4 is involved in hematopoiesis, skeletal morphogenesis, and limb development. It is located in the HOXC cluster on chromosome 12 and is expressed in various tissues including bone marrow and lymphoid organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Dysregulation of HOXC4 expression contributes to leukemogenesis via altered hematopoietic differentiation | PMID: 23434518 |
| Acute lymphoblastic leukemia | HOXC4 overexpression is associated with poor prognosis and aberrant lymphoid development | PMID: 25687249 |
| Skeletal abnormalities | Mutations in HOXC4 can disrupt limb and vertebral patterning | PMID: 10742114 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.7 | Low |
| Thymus | 5.9 | Low |
| Small intestine | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.1 | Chronic myeloid leukemia cell line |
| HL-60 | 10.4 | Acute promyelocytic leukemia cell line |
| Jurkat | 8.9 | T-cell leukemia cell line |
| HEK293 | 2.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown effect |
| c.214C>T | nonsense | <0.1% | Predicted loss of function |
| c.307G>A | missense | <0.1% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) likely result in truncated protein and loss of DNA-binding activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene regulation in hematopoiesis
• Retinoic acid signaling pathway
• Wnt signaling pathway
Protein Summary
The HOXC4 protein is a 218-amino acid homeodomain-containing transcription factor. It binds DNA via a helix-turn-helix motif and regulates target genes involved in cell identity and differentiation. The protein is predominantly nuclear and plays roles in hematopoietic stem cell self-renewal and lymphoid development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXC4 Knockout HEK293 Cell Line | EDJ-KQ4924 | Human | 3221 | Details Get a Quote |
| HOXC4 Knockout A-549 Cell Line | EDJ-KQ26551 | Human | 3221 | Details Get a Quote |
| HOXC4 Knockout HeLa Cell Line | EDJ-KQ27768 | Human | 3221 | Details Get a Quote |
| HOXC4 Knockout HCT 116 Cell Line | EDJ-KQ70498 | Human | 3221 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
