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FLASH GENE
Symbol TM7SF2 contributors: mct - updated : 20-06-2007
HGNC name transmembrane 7 superfamily member 2
HGNC id 11863
Location 11q13      Physical location : 64.879.340 - 64.883.706
Synonym name 3beta-hydroxysterol Delta(14)-reductase
Synonym symbol(s) ANG1, DHCR14A, SR-1, C14SR
EC.number 1.3.1.70
DNA
TYPE anonymous DNA segment
STRUCTURE 4.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
MAPPING cloned Y linked N status confirmed
Map see MEN1 MEN1
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Reproductivefemale systemovary  highly
 male systemprostate  highly
 male systemtestis   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM)
  • a sterol reductase-like carboxyl terminal domain
    • HOMOLOGY
    Homologene
    FAMILY seven pass transmembrane superfamily
    k1G protein coupled receptor superfamily in the MEN1 region,LBR superfamily
    CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    text located in the endoplasmic reticulum and continuous outer nuclear membrane
    basic FUNCTION
  • involved in the conversion of lanosterol to cholesterol
  • playing a primary role in cholesterol biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    sterol biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADP
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS