Gene: COL4A2

Alternate names for this Gene: BSVD2|ICH|POREN2

Gene Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: collagen type IV alpha 2 chain

Type of Gene: protein-coding

rs7993934 in COL4A2 gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs8000189 in COL4A2 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs12856221 in COL4A2 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs7993934 in COL4A2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and Colorectal Carcinoma PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and Colorectal Neoplasms PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs11838776 in COL4A2 gene and Coronary Artery Disease PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1536622 in COL4A2 gene and Glomerular Filtration Rate PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs4773178 in COL4A2 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.

rs4773173 in COL4A2 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs7993934 in COL4A2 gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs7993934 in COL4A2 gene and Malignant tumor of colon PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs55940034 in COL4A2 gene and Myocardial Infarction PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs387906602 in COL4A2 gene and PORENCEPHALY 2 PMID 22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

rs4773173 in COL4A2 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs7333748 in COL4A2 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs9515201 in COL4A2 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

rs9515214 in COL4A2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.