Gene: FADS2
Alternate names for this Gene: D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13
Gene Summary: The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 11
Location in Chromosome : 11q12.2
Description of this Gene: fatty acid desaturase 2
Type of Gene: protein-coding
rs1535 in
FADS2 gene and
Adenocarcinoma of large intestine
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs174621 in
FADS2 gene and
Adult onset asthma
PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
rs174601 in
FADS2 gene and
Alkaline phosphatase measurement
PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
rs174581 in
FADS2 gene and
Alopecia
PMID 28196072 2017 Genetic prediction of male pattern baldness.
rs174577 in
FADS2 gene and
Arachidonic acid measurement
PMID 26584805 2015 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.
rs174576 in
FADS2 gene and
Bipolar Disorder
PMID 28115744 2018 A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder.
rs61897795 in
FADS2 gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs77466626 in
FADS2 gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
rs174574 in
FADS2 gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs1535 in
FADS2 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
Chronic Kidney Diseases
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs1535 in
FADS2 gene and
Colorectal Carcinoma
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
Colorectal Neoplasms
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs174570 in
FADS2 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.
rs174576 in
FADS2 gene and
Fasting blood glucose measurement
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
rs174576 in
FADS2 gene and
Fasting blood sugar result
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
rs174541 in
FADS2 gene and
Fatty acid measurement
PMID 25500335 2015 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.
rs1535 in
FADS2 gene and
High density lipoprotein measurement
PMID 20694148 2010 A genome-wide association study of the metabolic syndrome in Indian Asian men.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs174599 in
FADS2 gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1535 in
FADS2 gene and
Inflammatory Bowel Diseases
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
rs174541 in
FADS2 gene and
Insulin Sensitivity Measurement
PMID 23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
rs1535 in
FADS2 gene and
Kidney Failure, Chronic
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs1535 in
FADS2 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 21977987 2011 Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs1535 in
FADS2 gene and
Malignant neoplasm of large intestine
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs174570 in
FADS2 gene and
Malignant neoplasm of lung
PMID 21725308 2011 A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
rs1535 in
FADS2 gene and
Malignant tumor of colon
PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs1535 in
FADS2 gene and
Metabolic Syndrome X
PMID 20694148 2010 A genome-wide association study of the metabolic syndrome in Indian Asian men.
rs61897795 in
FADS2 gene and
Neutrophil count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs174577 in
FADS2 gene and
P wave duration (observable entity)
PMID 24850809 2014 Genetic determinants of P wave duration and PR segment.
rs1535 in
FADS2 gene and
Phosphatidylcholine measurement
PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
rs174594 in
FADS2 gene and
Phosphatidylinositol measurement
PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
rs1535 in
FADS2 gene and
Phospholipid measurement
PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
rs97384 in
FADS2 gene and
Platelet Count measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs174577 in
FADS2 gene and
QRS complex feature
PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.
rs174583 in
FADS2 gene and
QT interval feature (observable entity)
PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
rs1535 in
FADS2 gene and
Serum HDL cholesterol measurement
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs1535 in
FADS2 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 21977987 2011 Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
rs11230805 in
FADS2 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.
rs1535 in
FADS2 gene and
Serum total cholesterol measurement
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 31393916 2019 Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs174577 in
FADS2 gene and
Serum transferrin measurement
PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
rs174577 in
FADS2 gene and
Transferrin measurement
PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
rs1535 in
FADS2 gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 19074352 2008 A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
rs174594 in
FADS2 gene and
Uric acid measurement (procedure)
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.