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: FEN1

Alternate names for this Gene: FEN-1|MF1|RAD2

Gene Summary: The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: flap structure-specific endonuclease 1

Type of Gene: protein-coding

rs4246215 in FADS2;FEN1 gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and Colorectal Carcinoma PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and Colorectal Neoplasms PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs4246215 in FADS2;FEN1 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.

rs4246215 in FADS2;FEN1 gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

rs4246215 in FADS2;FEN1 gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 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.

rs4246215 in FADS2;FEN1 gene and Malignant tumor of colon PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs4246215 in FADS2;FEN1 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.

rs4246215 in FADS2;FEN1 gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs4246215 in FADS2;FEN1 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.