ITGA6 Chromosome 2
Integrin subunit alpha 6
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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 in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000091409
Associated Conditions (9)
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa
junctional 6
with pyloric atresia
Inborn genetic diseases
ITGA6-related disorder
Clear cell carcinoma of kidney
Childhood-onset schizophrenia
Junctional epidermolysis bullosa
Key Variants
RS138874769
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS138908657
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS139596061
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS141344340
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS143159110
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS143857602
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 6, with pyloric atresia
Health Risk
RS148815652
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6
Health Risk
RS149917878
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS1559159868
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6
Health Risk
RS1686753674
Conflicting classifications of pathogenicity
Epidermolysis bullosa, junctional 6, with pyloric atresia
Health Risk
RS199737747
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
RS200561616
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138874769 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS138908657 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS139596061 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS141344340 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS143159110 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS143857602 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS148815652 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6 |
| RS149917878 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS1559159868 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6 |
| RS1686753674 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS199737747 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS200561616 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS201055917 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6 |
| RS201149707 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS202105422 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS368851699 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS371882767 | Health Risk | Conflicting classifications of pathogenicity | ITGA6-related disorder, Epidermolysis bullosa, junctional 6 |
| RS565088728 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa, junctional 6 |
| RS61757096 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, ITGA6-related disorder, Epidermolysis bullosa |
| RS745506887 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS748279299 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS751960466 | Health Risk | Conflicting classifications of pathogenicity | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS771708961 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS112265473 | Health Risk | Likely pathogenic | — |
| RS1377038208 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS1686926761 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS2468291355 | Health Risk | Likely pathogenic | — |
| RS2468320263 | Health Risk | Likely pathogenic | — |
| RS2468336988 | Health Risk | Likely pathogenic | — |
| RS2468360599 | Health Risk | Likely pathogenic | — |
| RS2468378787 | Health Risk | Likely pathogenic | — |
| RS746713750 | Health Risk | Likely pathogenic | — |
| RS759810439 | Health Risk | Likely pathogenic | Clear cell carcinoma of kidney, Clear cell carcinoma of kidney |
| RS778064094 | Health Risk | Likely pathogenic | — |
| RS863223349 | Health Risk | Likely pathogenic | Childhood-onset schizophrenia, Childhood-onset schizophrenia |
| RS1228228638 | Health Risk | Pathogenic | — |
| RS1686109678 | Health Risk | Pathogenic | — |
| RS1686177024 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2149039042 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS2149041171 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS2149047535 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS2149047683 | Health Risk | Pathogenic | Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia |
| RS2149067379 | Health Risk | Pathogenic | — |
| RS2149078144 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 6, with pyloric atresia |
| RS2468165774 | Health Risk | Pathogenic | — |
| RS2468291215 | Health Risk | Pathogenic | — |
| RS2468291275 | Health Risk | Pathogenic | — |
| RS2468314046 | Health Risk | Pathogenic | — |
| RS2468314090 | Health Risk | Pathogenic | — |
| RS2468316884 | Health Risk | Pathogenic | — |