ITGA6 (Integrin Subunit Alpha 6)
Key mediator of cell-matrix adhesion, implicated in cancer progression and epidermolysis bullosa
Gene Information Card
| Symbol | ITGA6 |
|---|---|
| Full Name | Integrin Subunit Alpha 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 3655 ncbi.nlm.nih.gov/gene/3655 |
| Ensembl ID | ENSG00000091409 |
| UniProt ID | P23229 |
| OMIM ID | 147556 |
| HGNC ID | 6142 |
| Aliases | CD49f, VLA-6, ITGA6B |
Description
ITGA6 encodes integrin alpha 6, a transmembrane receptor that heterodimerizes with beta 1 or beta 4 integrins to mediate cell adhesion to laminins. It plays critical roles in epithelial integrity, cell migration, and signal transduction. Aberrant expression and mutations are linked to cancer metastasis and junctional epidermolysis bullosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Junctional epidermolysis bullosa (non-Herlitz type) | Loss-of-function mutations in ITGA6 disrupt hemidesmosome assembly, leading to skin fragility and blistering | ClinVar, OMIM |
| Bladder cancer | Overexpression of ITGA6 promotes tumor invasion and metastasis via laminin binding | NCBI Gene, COSMIC |
| Breast cancer | ITGA6 upregulation correlates with poor prognosis and stem cell-like properties | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Lung | 22.8 | Medium |
| Kidney | 18.5 | Medium |
| Liver | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 38.7 | High expression |
| MCF7 (breast cancer) | 29.4 | Moderate expression |
| HEK293 (embryonic kidney) | 12.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1849C>T (p.Arg617*) | Nonsense | Rare | Loss of function; associated with epidermolysis bullosa |
| c.1225G>A (p.Gly409Ser) | Missense | 0.01% | Unknown significance; reported in ClinVar |
| c.267+1G>A | Splice donor | Rare | Loss of function; pathogenic in epidermolysis bullosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and splice-site mutations that truncate or disrupt the protein, leading to reduced cell adhesion and skin fragility.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by enhancing metastatic potential.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for ITGA6.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • integrin binding (GO:0005178) |
| • plasma membrane (GO:0005886) | • cell junction (GO:0030054) |
| • focal adhesion (GO:0005925) |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
Integrin alpha 6 (CD49f) is a 150 kDa transmembrane glycoprotein that pairs with beta 1 or beta 4 subunits to form laminin receptors. It is essential for hemidesmosome formation in epithelial tissues and regulates cell survival, proliferation, and migration. The protein contains an extracellular domain with seven FG-GAP repeats, a transmembrane domain, and a short cytoplasmic tail.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA6 Knockout HEK293 Cell Line | EDJ-KQ813 | Human | 3655 | Details Get a Quote |
| ITGA6 Knockout A-549 Cell Line | EDJ-KQ19558 | Human | 3655 | Details Get a Quote |
| ITGA6 Knockout HCT 116 Cell Line | EDJ-KQ19559 | Human | 3655 | Details Get a Quote |
| ITGA6 Knockout HeLa Cell Line | EDJ-KQ19560 | Human | 3655 | Details Get a Quote |
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