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FLASH GENE
Symbol ELOVL2 contributors: mct - updated : 05-12-2017
HGNC name elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2
HGNC id 14416
Location 6p24.3      Physical location : 10.980.994 - 11.044.624
Synonym name
  • very long chain 3-ketoacyl-CoA synthase 2
  • very long chain 3-oxoacyl-CoA synthase 2
  • 3-keto acyl-CoA synthase ELOVL2
    • Synonym symbol(s) SSC2, FLJ20334
    EC.number 2.3.1.199
    DNA
    TYPE functioning gene
    STRUCTURE 63.60 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4079 - 296 - 2016 27788154
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal transmembrane segments in the central hydrophilic region
  • a C terminal region with three transmmembrane segments (TM3)
  • a single HXXHH motif
  • a strong signal (dilysine motifs)
    • HOMOLOGY
    interspecies homolog to S.cerevisiae
    Homologene
    FAMILY GNS1/SUR4 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in the biosynthesis of very long chain fatty acids and in the pathogenesis of macular degeneration
  • ELOVL2 shows a progressive increase in methylation that begins since the very first stage of life
  • ELOVL2 is crucial for omega-3 docosahexaenoic acid (DHA) (22:6n-3) synthesis
  • hepatic DHA synthesis via ELOVL2, in addition to controlling de novo lipogenesis, also regulates lipid storage and fat mass expansion in an SREBF1-independent fashion
  • ELOVL2 methylation is a marker of cell divisions occurring during human aging
  • involvement of ESR1 in the control of especially ELOVL2, which plays a crucial role in docosahexaenoic acid (DHA) synthesis, may have potential implications in the treatment of breast cancer
  • potential role for ELOVL2 in ensuring normal insulin secretory responses to glucose
  • balanced activity of ELOVL2/ELOVL4 and WAPL enables cohesin to correctly structure chromosomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • two lipogenic genes encoding DGAT2 and FABP4 were induced in ELOVL2-overexpressing cells, whereas no such effect was seen on the fatty acid synthase (FASN) gene
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • appears to be a very promising biomarker of aging
    • Therapy target
    ANIMAL & CELL MODELS
  • Elovl2(-/-) mice were resistant to hepatic steatosis and diet-induced weight gain