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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
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