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FLASH GENE
Symbol FADS2 contributors: mct - updated : 17-12-2021
HGNC name fatty acid desaturase 2
HGNC id 3575
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
N terminal cytochrome b5-like domain and a C terminal multiple membrane spanning desaturase portion (both of which are characterized by conserved histidine motifs)
conjugated HemoP
HOMOLOGY
interspecies ortholog to murine Fads2
homolog to C.elegans fat-3
intraspecies paralog to FADS1
paralog to FADS3
Homologene
FAMILY
  • member of the fatty acid desaturase (FADS) gene family
  • cytochrome B5 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • regulating unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain
  • desaturating fatty acids 18:2(n-6) and 18:3(n-3) to form 20:4(n-6) (arachidonic acid) and 22:6(n-3) (docosahexaenoic acid)
  • association of the fatty acid desaturase 1 fatty acid desaturase 2 (FADS1, FADS2) gene cluster and the fatty acid composition of erythrocyte membranes
  • because of the importance of FADS2 in human skin, likely dysfunction in activity of sebaceous FADS2 may play a role in skin abnormalities associated with skin lipids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid desaturation
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by SREBP-1c
    repressed by HUFA
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to risk of coronary artery disease (CAD) in diabetic patients
  • to the pathogenesis of non-alcoholic fatty liver disease
  • Variant & Polymorphism SNP
  • SNPs in FADS2 gene (particularly rs174537) associate with plasma fatty acids and desaturase levels in patients with both T2D and coronary artery disease (CAD), which maybe increases the risk of CAD in diabetic patients
  • genetic variants of FADS2 may contribute to the pathogenesis of non-alcoholic fatty liver disease by modifying DNA methylation
  • rs968567 influences FADS2 transcription and offer first insights into the modulation of complex regulation mechanisms of FADS2 gene transcription by SNPs
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Fads2 gene expression in the mouse abolishes the initial step in the enzymatic cascade of PUFA synthesis, that does not impair the normal viability and lifespan of male and female fads2 -/- mice, but causes sterility