Gene: COL6A5

Alternate names for this Gene: COL29A1|VWA4

Gene Summary: This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: collagen type VI alpha 5 chain

Type of Gene: protein-coding

rs7629719 in COL6A5 gene and Atopy PMID 19961619 2009 A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

rs1542829 in COL6A5 gene and Body mass index PMID 24348519 2013 EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

rs1542829 in COL6A5 gene and Body mass index procedure PMID 24348519 2013 EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

rs1542829 in COL6A5 gene and Finding of body mass index PMID 24348519 2013 EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

rs1566135 in COL6A5 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.