ITGAV (Integrin Subunit Alpha V) Gene
Key mediator of cell adhesion, angiogenesis, and tumor progression
Gene Information Card
| Symbol | ITGAV |
|---|---|
| Full Name | Integrin Subunit Alpha V |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 3685 ncbi.nlm.nih.gov/gene/3685 |
| Ensembl ID | ENSG00000138448 |
| UniProt ID | P06756 |
| OMIM ID | 193210 |
| HGNC ID | 6150 |
| Aliases | CD51, MSK8, VNRA, VTNR |
Description
ITGAV encodes integrin alpha V, a transmembrane glycoprotein that non-covalently associates with beta subunits (beta1, beta3, beta5, beta6, beta8) to form functional integrin receptors. These receptors mediate cell adhesion to extracellular matrix components such as vitronectin, fibronectin, and osteopontin, and play critical roles in angiogenesis, cell migration, and tumor metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glaucoma (primary open-angle) | ITGAV variants may alter trabecular meshwork cell adhesion and outflow resistance | ClinVar |
| Cancer (multiple types) | Overexpression promotes tumor angiogenesis and metastasis via integrin-mediated signaling | COSMIC, NCBI |
| Idiopathic pulmonary fibrosis | Integrin αvβ6 activation of TGF-β contributes to fibrosis | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 19.8 | Medium |
| Placenta | 16.2 | Medium |
| Kidney | 14.5 | Medium |
| Heart | 12.1 | Medium |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 22.4 | High expression |
| HUVEC (endothelial) | 18.7 | High expression |
| HEK 293 (embryonic kidney) | 15.3 | Medium expression |
| MCF7 (breast cancer) | 12.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103Trp) | Missense | Rare | Unknown functional impact |
| c.1120G>A (p.Gly374Ser) | Missense | Rare | Reported in glaucoma |
| c.1681G>A (p.Glu561Lys) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; few loss-of-function variants reported.
Gain of Function (GOF)
Not established; overexpression in tumors suggests potential gain-of-function role.
Dominant Negative (DN)
Not reported for ITGAV.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • cell adhesion (GO:0007155) |
| • integrin-mediated signaling pathway (GO:0007229) | • integral component of membrane (GO:0016021) |
| • cell migration involved in sprouting angiogenesis (GO:0033627) |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• Focal adhesion (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
• Angiogenesis (Reactome: R-HSA-194315)
Protein Summary
Integrin alpha V (CD51) is a 150 kDa transmembrane protein that forms heterodimers with multiple beta subunits. It recognizes the RGD motif in extracellular matrix proteins and is essential for cell adhesion, migration, and angiogenesis. The protein is overexpressed in various cancers and is a target for therapeutic intervention.
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