Gene: ITGA4

Alternate names for this Gene: CD49D|IA4

Gene Summary: 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 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.3

Description of this Gene: integrin subunit alpha 4

Type of Gene: protein-coding

rs3770136 in ITGA4 gene and Blood basophil count (lab test) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10172410 in ITGA4 gene and Degenerative polyarthritis PMID 21871595 2011 A variant in MCF2L is associated with osteoarthritis.

rs12988934 in ITGA4 gene and Eosinophil count procedure PMID 21738478 2011 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

rs3770112 in ITGA4 gene and Malignant neoplasm of testis PMID 19483682 2009 Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.

rs10562650 in ITGA4 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 21738478 2011 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

PMID 25096241 2014 Trans-ethnic meta-analysis of white blood cell phenotypes.

PMID 28158719 2017 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

PMID 28193307 2017 Heritability and GWAS Studies for Monocyte-Lymphocyte Ratio.

rs10562650 in ITGA4 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 21738478 2011 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

PMID 25096241 2014 Trans-ethnic meta-analysis of white blood cell phenotypes.

PMID 28158719 2017 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

PMID 28193307 2017 Heritability and GWAS Studies for Monocyte-Lymphocyte Ratio.

rs1143676 in ITGA4 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1375493 in ITGA4 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.