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

Gene: FADS1

Alternate names for this Gene: D5D|FADS6|FADSD5|LLCDL1|TU12

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 FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: fatty acid desaturase 1

Type of Gene: protein-coding

rs174547 in FADS2;FADS1 gene and Atrial Fibrillation PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12226877 in FADS2;FADS1 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs174548 in FADS2;FADS1 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.

rs174547 in FADS2;FADS1 gene and Body Height PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

rs174547 in FADS2;FADS1 gene and Body mass index PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and Cerebrovascular accident PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174548 in FADS2;FADS1 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.

rs174547 in FADS2;FADS1 gene and Coronary heart disease PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs12226877 in FADS2;FADS1 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs174547 in FADS2;FADS1 gene and Diabetes PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and Diabetes Mellitus PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and Diastolic blood pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174548 in FADS2;FADS1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs174549 in FADS2;FADS1 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.

PMID 29514873 2018 Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient.

rs174547 in FADS2;FADS1 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174555 in FADS2;FADS1 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs174547 in FADS2;FADS1 gene and Heart failure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and Hematocrit procedure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and High density lipoprotein measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

rs174548 in FADS2;FADS1 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.

rs174549 in FADS2;FADS1 gene and Laryngeal Squamous Cell Carcinoma PMID 25194280 2014 Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.

rs174547 in FADS2;FADS1 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs174547 in FADS2;FADS1 gene and Low density lipoprotein cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs174547 in FADS2;FADS1 gene and Malignant Neoplasms PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174548 in FADS2;FADS1 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.

rs174548 in FADS2;FADS1 gene and Mean Corpuscular Volume (result) PMID 23303382 2013 Genome-wide association study of serum albumin:globulin ratio in Korean populations.

rs174555 in FADS2;FADS1 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs174564 in FADS2;FADS1 gene and Phosphatidylcholine measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs174547 in FADS2;FADS1 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.

PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs174548 in FADS2;FADS1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7394579 in FADS2;FADS1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7394579 in FADS2;FADS1 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs174547 in FADS2;FADS1 gene and RESTING HEART RATE PMID 20639392 2010 Genome-wide association analysis identifies multiple loci related to resting heart rate.

rs7394579 in FADS2;FADS1 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs968567 in FADS2;FADS1 gene and Rheumatoid Arthritis PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs174547 in FADS2;FADS1 gene and Serum HDL cholesterol measurement PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs174548 in FADS2;FADS1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs174547 in FADS2;FADS1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

PMID 20037589 2010 A genome-wide perspective of genetic variation in human metabolism.

PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs174547 in FADS2;FADS1 gene and Serum total cholesterol measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs174547 in FADS2;FADS1 gene and Systolic Pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs174547 in FADS2;FADS1 gene and Triglycerides measurement PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 19074352 2008 A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs968567 in FADS2;FADS1 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs174549 in FADS2;FADS1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs174547 in FADS2;FADS1 gene and elevated blood glucose level PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs174549 in FADS2;FADS1 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.