Gene: COL4A1

Alternate names for this Gene: BSVD|BSVD1|COL4A1s|PADMAL|RATOR

Gene Summary: This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: collagen type IV alpha 1 chain

Type of Gene: protein-coding

rs113994104 in COL4A1 gene and Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

rs3742207 in COL4A1 gene and Arterial Stiffness PMID 20031579 2009 COL4A1 is associated with arterial stiffness by genome-wide association scan.

rs587780588 in COL4A1 gene and BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 22102590 2012 Reorganizing the protein space at the Universal Protein Resource (UniProt).

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs494558 in COL4A1 gene and Body Weight PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs675605 in COL4A1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9521634 in COL4A1 gene and Cerebrovascular accident PMID 30383316 2018 We identified an exonic polymorphism in NOS3 (rs1799983, p.Glu298Asp; p = 2.2E-8, odds ratio [OR] = 1.05, 95% confidence interval [CI] = 1.04-1.07) and variants in an intron of COL4A1 (rs9521634; p = 3.8E-8, OR = 1.04, 95% CI = 1.03-1.06) and near DYRK1A (rs720470; p = 6.1E-9, OR = 1.05, 95% CI = 1.03-1.07) at genome-wide significance for stroke.

PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs11617955 in COL4A1 gene and Coronary Artery Disease PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for 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.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs71440053 in COL4A1 gene and Duration of sleep PMID 27126917 2016 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study.

rs1064795935 in COL4A1 gene and Dysmorphic features PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

rs3783107 in COL4A1 gene and Glomerular Filtration Rate PMID 30920136 2019 The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population.

rs200786329 in COL4A1 gene and HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO PMID 22522439 2012 COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

rs7998875 in COL4A1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7330914 in COL4A1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs58814158 in COL4A1 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs58814158 in COL4A1 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1064795935 in COL4A1 gene and Movement Disorders PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

rs1064795935 in COL4A1 gene and Muscle hypotonia PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

rs797045034 in COL4A1 gene and PORENCEPHALY, FAMILIAL PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1975514 in COL4A1 gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs494558 in COL4A1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs113994108 in COL4A1 gene and Porencephaly, Type 1, Autosomal Dominant PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 24628545 2014 Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 19477666 2010 A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 17379824 2007 COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 20385946 2010 Ophthalmological features associated with COL4A1 mutations.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

rs1555303073 in COL4A1 gene and Schizencephaly PMID 23225343 2013 Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

rs7998875 in COL4A1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7330914 in COL4A1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7330914 in COL4A1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs112972174 in COL4A1 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs7998875 in COL4A1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs664532 in COL4A1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs9588131 in COL4A1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.