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FLASH GENE
Symbol ANXA5 contributors: mct - updated : 02-04-2007
HGNC name annexin A5
HGNC id 543
DNA
TYPE functioning gene
STRUCTURE 29.00 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • one non-translated exon and 12 coding exons
  • high GC content and Sp1-binding sites, multiple start site promoters
  • MAPPING cloned Y linked Y status provisional
    Map cen - D4S2945 - D4S1611 - ANXA5 - CCNA2 - D4S430 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1624 - 320 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   predominantly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  predominantly
    Respiratorylung   highly
    Urinarykidney   predominantly
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a relatively short N terminus and a C terminal "core" region
  • four repeats homolog to the endonexin fold
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Anxa5
    homolog to C.elegans Zc155?1
    Homologene
    FAMILY
  • annexin family and lipocortin family
  • chordate annexin family
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • implicated in membrane-related events along exocytotic and endocytotic pathway
  • phospholipase A2 and protein kinase C inhibitory protein with Ca2+ channel activity
  • potential role in cellular signal transduction, inflammation, growth and differentiation
  • functioning as an inhibitor of coagulation owing to its ability to bind to anionic phospholipids exposed on the surface of platelets, thereby inhibiting aggregation
  • through an inducible association with IFNGR2, modulates cellular responses to IFN-gamma by modulating signaling through the Jak-Stat1 pathway
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS exocytosis transport , endocytosis transport
    text anticoagulation activity
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of chondrocytes anchorin CII collagen receptor
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, other,
  • Ca2+
  • phospholipid
  • protein ATRX
    cell & other
    REGULATION
    inhibited by downregulated in adult articular cartilage
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    could be responsible for immunological and hemostatic phenomena that, together, lead to fetal loss
    Susceptibility to recurrent pregnancy loss
    Variant & Polymorphism M2 promoter haplotype is a risk factor for recurrent pregnancy loss in German females
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS