VASH2 (Vasohibin 2) Gene
Gene encoding a tubulin carboxypeptidase involved in angiogenesis and microtubule dynamics
Gene Information Card
| Symbol | VASH2 |
|---|---|
| Full Name | Vasohibin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 79805 ncbi.nlm.nih.gov/gene/79805 |
| Ensembl ID | ENSG00000143476 |
| UniProt ID | Q86V25 |
| OMIM ID | 607122 |
| HGNC ID | 25923 |
| Aliases | FLJ12529, KIAA1690, VASH2 |
Description
VASH2 encodes vasohibin 2, a member of the vasohibin family. It functions as a tubulin carboxypeptidase that removes the C-terminal tyrosine from alpha-tubulin, regulating microtubule detyrosination. VASH2 is involved in angiogenesis, cell migration, and tumor progression. It is expressed in various tissues and is upregulated in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | VASH2 overexpression promotes angiogenesis and tumor growth via enhanced microtubule dynamics and endothelial cell migration. | PMID: 24755471; COSMIC gene analysis |
| Hepatocellular carcinoma | VASH2 upregulation correlates with poor prognosis and increased microvessel density. | PMID: 26929433 |
| Gastric cancer | VASH2 expression is associated with lymph node metastasis and advanced stage. | PMID: 28407145 |
| Ovarian cancer | VASH2 promotes tumor angiogenesis and peritoneal dissemination. | PMID: 25944714 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Low |
| Lung | 5.4 | Low |
| Heart | 4.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung adenocarcinoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HeLa | 5.1 | Cervical cancer cell line |
| K562 | 2.3 | Chronic myeloid leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1489_1490insA (p.Thr497Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; rare in population databases |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants are predicted to cause loss of tubulin carboxypeptidase activity.
Gain of Function (GOF)
No gain-of-function mutations have been characterized in VASH2.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Microtubule detyrosination cycle
• VEGF signaling pathway (via angiogenesis regulation)
• Cell cycle (mitotic spindle assembly)
Protein Summary
VASH2 is a 365-amino acid protein (UniProt Q86V25) that belongs to the vasohibin family. It contains a conserved tubulin carboxypeptidase domain and is localized to the cytoplasm and centrosome. The protein catalyzes the removal of the C-terminal tyrosine from alpha-tubulin, a key modification that regulates microtubule stability and dynamics. VASH2 is involved in angiogenesis by promoting endothelial cell migration and tube formation. It is overexpressed in multiple cancers and is considered a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VASH2 Knockout HEK293 Cell Line | EDJ-KQ16092 | Human | 79805 | Details Get a Quote |
| VASH2 Knockout HeLa Cell Line | EDJ-KQ46012 | Human | 79805 | Details Get a Quote |
| VASH2 Knockout A-549 Cell Line | EDJ-KQ47238 | Human | 79805 | Details Get a Quote |
| VASH2 Knockout HCT 116 Cell Line | EDJ-KQ47239 | Human | 79805 | Details Get a Quote |