Gene: CELSR2
Alternate names for this Gene: ADGRC2|CDHF10|EGFL2|Flamingo1|MEGF3
Gene Summary: The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined.
Gene is located in Chromosome: 1
Location in Chromosome : 1p13.3
Description of this Gene: cadherin EGF LAG seven-pass G-type receptor 2
Type of Gene: protein-coding
rs12740374 in
CELSR2 gene and
Acute Coronary Syndrome
PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
rs7528419 in
CELSR2 gene and
Alcohol consumption
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs629301 in
CELSR2 gene and
Atrial Fibrillation
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs12740374 in
CELSR2 gene and
Blood Protein Measurement
PMID 30111768 2018 Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs12740374 in
CELSR2 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs629301 in
CELSR2 gene and
Body mass index
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs12740374 in
CELSR2 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs646776 in
CELSR2 gene and
Catalase measurement
PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.
rs629301 in
CELSR2 gene and
Cerebrovascular accident
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs12740374 in
CELSR2 gene and
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.
PMID 28714974 2017 Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.
PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.
rs12740374 in
CELSR2 gene and
Coronary heart disease
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
PMID 22319020 2012 A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
PMID 21966275 2011 Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
rs629301 in
CELSR2 gene and
Diabetes
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
Diabetes Mellitus
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
Diastolic blood pressure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
Glucose measurement
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
Heart failure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
Hematocrit procedure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs12740374 in
CELSR2 gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs646776 in
CELSR2 gene and
Lipids measurement
PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
rs10858082 in
CELSR2 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 31393916 2019 Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
PMID 18262040 2008 In our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)] and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical association with LDL cholesterol at chromosomal locus 1p13.3.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.
PMID 18262040 2008 SNPs rs599839 and rs646776 both explained around 1% of the variation in circulating LDL-cholesterol concentrations and were associated with about 15% of an SD change in LDL cholesterol per allele, assuming an SD of 1 mmol/L.
PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
rs629301 in
CELSR2 gene and
Malignant Neoplasms
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs646776 in
CELSR2 gene and
Myocardial Infarction
PMID 19198609 2009 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
rs7528419 in
CELSR2 gene and
Peripheral Arterial Diseases
PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.
rs12740374 in
CELSR2 gene and
Pseudocholinesterase Measurement
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
rs12740374 in
CELSR2 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs10858082 in
CELSR2 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.
PMID 18262040 2008 In our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)] and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical association with LDL cholesterol at chromosomal locus 1p13.3.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 18262040 2008 SNPs rs599839 and rs646776 both explained around 1% of the variation in circulating LDL-cholesterol concentrations and were associated with about 15% of an SD change in LDL cholesterol per allele, assuming an SD of 1 mmol/L.
PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
rs12740374 in
CELSR2 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
rs10858082 in
CELSR2 gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 31393916 2019 Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.
rs646776 in
CELSR2 gene and
Squamous cell carcinoma
PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.
rs629301 in
CELSR2 gene and
Systolic Pressure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs4970834 in
CELSR2 gene and
Triglycerides measurement
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs629301 in
CELSR2 gene and
elevated blood glucose level
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.