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FLASH GENE
Symbol MASP2 contributors: mlc - updated : 18-10-2007
HGNC name mannan-binding lectin serine protease 2
HGNC id 6902
DNA
TYPE functioning gene
STRUCTURE 2.00 kb     5 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure conservation of two putative Stat binding sites, termed StatA and StatB ( Stat3 binding is important for MASP2 promoter activity )
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 738 - 185 - Gregory (2004) Thiel (2007)
  • N-terminal CUB1-epidermal growth factor (EGF) segment of MASP-2, plus four additional residues at its C-terminal end
  • - - 2460 - 686 - Thiel (2007)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Respiratoryrespiratory tractlarynx   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • short consensus repeats, sushi structure
  • N-terminal CUB domain, and the EGF-like domain
  • C-terminal sequence (EQSL) and lacks the serine protease catalytic domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION serine protease involved in the mannan-binding lectin pathway of complement activation
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component forms Ca(2+)-dependent complexes with mannan-binding lectin (MBL) and L-ficolin
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MASP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer, significantly correlated with recurrent cancer disease and with poor survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS