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FLASH GENE
Symbol MBL2 contributors: npt/ - updated : 10-10-2006
HGNC name mannose-binding lectin (protein C) 2, soluble (opsonic defect)
HGNC id 6922
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head, a collagen-like domain
  • a C terminal carbohydrate binding domain, with alternatively spliced isoform MAP19 (present in urine and inhibiting calcium oxalate crystal growth)
  • one C type lectin family domain
  • a cystein-rich domain
  • mono polymer octamer
    HOMOLOGY
    interspecies homolog to C1q
    homolog to murine Mbp-c
    intraspecies homolog to SFTP1
    Homologene
    FAMILY
  • collectins family
  • CATEGORY adhesion , immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • antibody independent activator of the classical pathway of complement
  • functions as a natural and effective inhibitor of meprins, and may contribute, as a potential therapeutic target, to tumor progression by facilitating the migration, intravasation, and metastasis of carcinoma cells, and to acute renal failure and inflammatory bowel diseases
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing as an hexameric form with MASP1, MASP2, Map19, a spliced isoform of MASP2 to form the antibody independent activator of the classical pathway of complement
  • complex MBL including MBL2(functional) and the pseudogene MBL1P1 (products of a gene-duplication event)
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • mannose
  • protein
  • interaction of MBL2 and C1Q@ with receptors on endothelial cells may be involved in inflammatory processes, and in clearance of pathogens and apoptotic cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MBL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in chronic, progressive hepatitis B infection
    Susceptibility
  • to Sjögren syndrome
  • to pre-eclampsia, HELLP syndrome and IUGR
  • Variant & Polymorphism other
  • codon 54 polymorphism protects against pre-eclampsia, HELLP syndrome and IUGR and implies that an MBL-mediated event might be involved in the pathogenesis of these disorders
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS