ITGA3 Gene - Integrin Subunit Alpha 3
Key mediator of cell adhesion, migration, and signaling in epithelial and endothelial tissues
Gene Information Card
| Symbol | ITGA3 |
|---|---|
| Full Name | Integrin Subunit Alpha 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 3675 ncbi.nlm.nih.gov/gene/3675 |
| Ensembl ID | ENSG00000005884 |
| UniProt ID | P26006 |
| OMIM ID | 605025 |
| HGNC ID | 6139 |
| Aliases | CD49c, VLA3a, GAP-B3, MSK18 |
Description
ITGA3 encodes the integrin alpha 3 subunit, which heterodimerizes with beta 1 integrin to form the α3β1 integrin receptor (VLA-3). This receptor mediates cell adhesion to laminins, collagen, and other extracellular matrix components. ITGA3 is critical for epithelial and endothelial integrity, kidney development, lung function, and wound healing. Mutations cause interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB syndrome). Overexpression is linked to cancer invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB syndrome) | Loss-of-function mutations in ITGA3 disrupt α3β1 integrin-mediated adhesion in lung, kidney, and skin epithelia, leading to organ failure. | OMIM #614748; ClinVar; PMID: 22284826 |
| Congenital nephrotic syndrome | ITGA3 mutations impair glomerular basement membrane adhesion, causing proteinuria and renal failure. | OMIM #605025; PMID: 22284826 |
| Cancer (multiple types) | ITGA3 overexpression promotes tumor cell adhesion, migration, and invasion via α3β1 integrin signaling, associated with poor prognosis in breast, lung, and pancreatic cancers. | COSMIC; PMID: 28431213 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 42.3 | High |
| Kidney | 38.1 | High |
| Skin | 35.7 | High |
| Breast | 28.9 | Medium |
| Pancreas | 22.4 | Medium |
| Liver | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 56.2 | High expression |
| HEK 293 (embryonic kidney) | 44.8 | High expression |
| MCF7 (breast carcinoma) | 32.1 | Medium expression |
| HaCaT (keratinocyte) | 29.5 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1871G>A (p.Arg624His) | Missense | Rare (ILNEB) | Loss of α3β1 integrin function; disrupts ligand binding |
| c.1771C>T (p.Arg591*) | Nonsense | Rare (ILNEB) | Premature truncation; loss of protein function |
| c.2440G>A (p.Glu814Lys) | Missense | Rare (ILNEB) | Impaired heterodimerization with beta 1 |
| c.959_960del (p.Leu320Profs*12) | Frameshift | Rare (ILNEB) | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ILNEB-associated ITGA3 mutations are loss-of-function, leading to reduced or absent α3β1 integrin activity.
Gain of Function (GOF)
Not reported in ITGA3; gain-of-function mutations are not documented in ClinVar or COSMIC.
Dominant Negative (DN)
Not reported; ITGA3 mutations are typically recessive in ILNEB syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Integrin alpha 3 (CD49c) is a 1106-amino acid transmembrane protein that forms the α3β1 integrin complex. It contains an extracellular domain with seven FG-GAP repeats, a transmembrane domain, and a short cytoplasmic tail. The α3β1 integrin binds primarily to laminins (e.g., laminin-332, laminin-511) and mediates cell adhesion, spreading, and migration. It is essential for the integrity of epithelial and endothelial barriers, particularly in lung, kidney, and skin. Post-translational modifications include N-glycosylation and proteolytic cleavage. UniProt ID: P26006.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA3 Knockout HEK293 Cell Line | EDJ-KQ811 | Human | 3675 | Details Get a Quote |
| ITGA3 Knockout HeLa Cell Line | EDJ-KQ18310 | Human | 3675 | Details Get a Quote |
| ITGA3 Knockout A-549 Cell Line | EDJ-KQ19554 | Human | 3675 | Details Get a Quote |
| ITGA3 Knockout HCT 116 Cell Line | EDJ-KQ19555 | Human | 3675 | Details Get a Quote |
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