ITGB6 Chromosome 2
Integrin subunit beta 6
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What This Gene Does
This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Integrin beta subunits
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000115221
Associated Conditions (4)
ITGB6-related disorder
Inborn genetic diseases
Amelogenesis imperfecta type 1H
Adolescent alopeciam dentogingival abnormalitites and intellectual disability
Key Variants
RS113506485
Conflicting classifications of pathogenicity
ITGB6-related disorder, Inborn genetic diseases, ITGB6-related disorder
Health Risk
RS142197545
Conflicting classifications of pathogenicity
Health Risk
RS755330939
Conflicting classifications of pathogenicity
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS140624114
Likely pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS1683256077
Likely pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS730880298
Likely pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS140015315
Pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS561588576
Pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS730880297
Pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS730882118
Pathogenic
Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
Health Risk
RS779692470
Pathogenic
Adolescent alopeciam dentogingival abnormalitites and intellectual disability, Adolescent alopeciam dentogingival abnormalitites and intellectual disability
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113506485 | Health Risk | Conflicting classifications of pathogenicity | ITGB6-related disorder, Inborn genetic diseases, ITGB6-related disorder |
| RS142197545 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755330939 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS140624114 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS1683256077 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS730880298 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS140015315 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS561588576 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS730880297 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS730882118 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H |
| RS779692470 | Health Risk | Pathogenic | Adolescent alopeciam dentogingival abnormalitites and intellectual disability, Adolescent alopeciam dentogingival abnormalitites and intellectual disability |