ITGA3 Chromosome 17
Integrin subunit alpha 3
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What This Gene Does
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits"
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000005884
Associated Conditions (7)
ITGA3-related disorder
Epidermolysis bullosa
junctional 7
with interstitial lung disease and nephrotic syndrome
Inborn genetic diseases
Malignant tumor of esophagus
Nephrotic syndrome
Key Variants
RS143785911
Conflicting classifications of pathogenicity
ITGA3-related disorder, Epidermolysis bullosa, junctional 7
Health Risk
RS200113398
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200751011
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Health Risk
RS367769075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epidermolysis bullosa, junctional 7
Health Risk
RS368305833
Conflicting classifications of pathogenicity
Health Risk
RS370218357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epidermolysis bullosa, junctional 7
Health Risk
RS373784669
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Health Risk
RS374024105
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Health Risk
RS377525741
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS530445034
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Health Risk
RS540704248
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Health Risk
RS542802167
Conflicting classifications of pathogenicity
ITGA3-related disorder, ITGA3-related disorder
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143785911 | Health Risk | Conflicting classifications of pathogenicity | ITGA3-related disorder, Epidermolysis bullosa, junctional 7 |
| RS200113398 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200751011 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS367769075 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Epidermolysis bullosa, junctional 7 |
| RS368305833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370218357 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Epidermolysis bullosa, junctional 7 |
| RS373784669 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS374024105 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS377525741 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS530445034 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS540704248 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS542802167 | Health Risk | Conflicting classifications of pathogenicity | ITGA3-related disorder, ITGA3-related disorder |
| RS548104305 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757065777 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762945257 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS1598186840 | Health Risk | Likely pathogenic | — |
| RS1908920447 | Health Risk | Likely pathogenic | — |
| RS200623247 | Health Risk | Likely pathogenic | ITGA3-related disorder, ITGA3-related disorder |
| RS200810866 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS2144304926 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2508937834 | Health Risk | Likely pathogenic | — |
| RS774274614 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS775389411 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS776593477 | Health Risk | Likely pathogenic | ITGA3-related disorder, ITGA3-related disorder |
| RS777480064 | Health Risk | Likely pathogenic | ITGA3-related disorder, ITGA3-related disorder |
| RS797044989 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS1567701091 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS2508935534 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS797045048 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS140781106 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
| RS1416855722 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |