ITGAV Chromosome 2
Integrin subunit alpha V
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What This Gene Does
The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits"
Locus Type
gene with protein product
Location
2q32.1
Ensembl
ENSG00000138448
Associated Conditions (4)
ITGAV deficiency
IMMUNE DYSREGULATION
NEURODEVELOPMENTAL DEFECTS
AND COLITIS
Key Variants
RS1357935457
Pathogenic
ITGAV deficiency, IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS
Health Risk
RS1443125036
Pathogenic
IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS
Health Risk
RS1688922276
Pathogenic/Likely pathogenic
IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS
Health Risk
RS2468408721
Pathogenic/Likely pathogenic
ITGAV deficiency, IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1357935457 | Health Risk | Pathogenic | ITGAV deficiency, IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS |
| RS1443125036 | Health Risk | Pathogenic | IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS |
| RS1688922276 | Health Risk | Pathogenic/Likely pathogenic | IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS |
| RS2468408721 | Health Risk | Pathogenic/Likely pathogenic | ITGAV deficiency, IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS |