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FLASH GENE
Symbol MCFD2 contributors: mct - updated : 11-05-2011
HGNC name multiple coagulation factor deficiency 2
HGNC id 18451
Corresponding disease
FMFD1 familial multiple coagulation factor deficiency 1
Location 2p21      Physical location : 47.129.008 - 47.168.994
Synonym name neural stem cell derived neuronal survival protein
Synonym symbol(s) F5F8D, SDNSF, LMAN1IP, DKFZp686G21263, F5F8D2
DNA
TYPE functioning gene
STRUCTURE 39.98 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 4179 - 127 - 2010 20007547
4 - 4334 - 146 - 2010 20007547
3 - 4027 10.7 94 - 2010 20007547
4 - 4182 16.4 146 - 2010 20007547
3 - 4041 10.7 94 - 2010 20007547
4 - 4196 16.4 146 - 2010 20007547
5 - 4290 16.4 146 - 2010 20007547
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Reproductivemale systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryolfactory  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a predicted signal peptide at the N terminus
  • two calmodulin-like EF hands for putative calcium binding at the C terminus, which are both necessary and sufficient for MCFD2 to interact with LMAN1 (separate binding sites for LMAN1 and FV/FVIII that are essential for cargo receptor formation and cargo loading in the ER)
  • secondary structure
  • folds upon binding of Ca(2+) to the two EF-hand motifs of its C-terminus, while retaining some localized disorder in the N-terminus )
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text endoplasmic reticulum-Golgi intermediate compartment
    basic FUNCTION
  • playing an important role as an autocrine/paracrine factor in maintaining stem cell potential and life long neurogenesis in adult central nervous system
  • participate in transport of the glycosylated human coagulation factors V and VIII along the secretory pathway
  • LMAN1 and MCFD2 form a Ca(2+)-dependent cargo receptor that cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment for efficient transport of FV/FVIII from the ER to the Golgi
  • with LMAN1, it transports coagulation factors V and VIII
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind both LMAN1 and the blood coagulation factors (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FMFD1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS