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.