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FLASH GENE
Symbol DEGS2 contributors: mct - updated : 12-11-2012
HGNC name degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)
HGNC id 20113
Location 14q32.32      Physical location : 100.612.752 - 100.626.012
Synonym name
  • sphingolipid C4-hydroxylase/delta 4-desaturase
  • chromosome 14 open reading frame 66
    • Synonym symbol(s) DES2, C14orf66, FADS8, hdes2
    DNA
    TYPE functioning gene
    STRUCTURE 13.26 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1411 - 323 - 2004 15063729
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Mus musculusMDES2 mRNA
     intestinelarge intestinecolon  
    Endocrinepancreasislet of Langerhans (obligat)   
    Skin/Tegumentskin    
    Urinarykidney   highly Mus musculusMDES2 mRNA
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebonesubchondral  
    Epithelialbarrier liningendometrium  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a region important for C-4 hydroxylase activity, containing the sequence XAFGY (X=T or A or V; Y=T or N) and occuring on the C-terminal side of the first His-box
    • HOMOLOGY
    interspecies homolog to murine Des2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • having oxidoreductase activity
  • playing an essential role in phytosphingolipid synthesis in skin and other phytosphingolipid-containing tissues
  • overexpression of DEGS1 or DEGS2 attenuated the dihydroceramide accumulation and increased cell proliferation during hypoxia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by during during vitamin C/serum-induced differentiation of keratinocytes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of DEGS1 or DEGS2 attenuated the dihydroceramide accumulation and increased cell proliferation during hypoxia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS