VENTX: A Homeobox Transcription Factor in Hematopoiesis and Cancer
Comprehensive genomic and functional overview of VENTX, a key regulator of hematopoietic stem cell differentiation and oncogenesis.
Gene Information Card
| Symbol | VENTX |
|---|---|
| Full Name | VENT homeobox homolog (Xenopus laevis) |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 27287 ncbi.nlm.nih.gov/gene/27287 |
| Ensembl ID | ENSG00000151615 |
| UniProt ID | O95231 |
| OMIM ID | 609298 |
| HGNC ID | 13639 |
| Aliases | VENT, VENTX1, VENTX2, HPX42B |
Description
VENTX encodes a homeobox transcription factor that plays a critical role in early hematopoietic stem cell (HSC) differentiation and lineage commitment. It is a downstream target of the Wnt/β-catenin signaling pathway and is involved in regulating self-renewal versus differentiation decisions. VENTX expression is tightly regulated during development and is frequently dysregulated in hematologic malignancies, particularly acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | VENTX overexpression blocks myeloid differentiation and promotes leukemogenesis by repressing C/EBPα and PU.1 | PMID: 21536682; COSMIC |
| Chronic Lymphocytic Leukemia | VENTX is upregulated and associated with poor prognosis; may drive B-cell proliferation via Wnt pathway activation | PMID: 23327922; ClinVar |
| Myelodysplastic Syndromes | VENTX mutations and altered expression contribute to ineffective hematopoiesis | COSMIC; PMID: 24895336 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Thymus | 6.1 | Low |
| Lymph Node | 5.4 | Low |
| Peripheral Blood Leukocytes | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (CML) | 15.2 | High expression; consistent with myeloid progenitor origin |
| HL-60 (AML) | 18.7 | Very high; correlates with differentiation block |
| Jurkat (T-ALL) | 2.1 | Low |
| Raji (Burkitt lymphoma) | 1.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <1% | Loss of DNA-binding; reduced transcriptional activity |
| c.631_632insA (p.Thr211Asnfs*12) | Frameshift | <1% | Truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | <1% | No protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the homeodomain impair DNA binding and transactivation, leading to loss of function.
Gain of Function (GOF)
Not reported; overexpression in AML is due to transcriptional upregulation, not activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by VENTX (Reactome: R-HSA-9616222)
• Hematopoietic stem cell differentiation (KEGG: hsa04640)
Protein Summary
The VENTX protein (UniProt O95231) is a 246-amino-acid homeodomain transcription factor. It contains a conserved DNA-binding homeodomain (residues 130-189) that recognizes TAAT core motifs. VENTX localizes to the nucleus and regulates target genes involved in hematopoietic stem cell maintenance and differentiation. It interacts with TCF/LEF factors to modulate Wnt signaling output. Post-translational modifications include phosphorylation, which may affect stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VENTX Knockout HEK293 Cell Line | EDJ-KQ8744 | Human | 27287 | Details Get a Quote |
| VENTX Knockout HeLa Cell Line | EDJ-KQ56047 | Human | 27287 | Details Get a Quote |
| VENTX Knockout A-549 Cell Line | EDJ-KQ64532 | Human | 27287 | Details Get a Quote |
| VENTX Knockout HCT 116 Cell Line | EDJ-KQ72991 | Human | 27287 | Details Get a Quote |
