Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MBL2 contributors: npt/ - updated : 10-10-2006
HGNC name mannose-binding lectin (protein C) 2, soluble (opsonic defect)
HGNC id 6922
Corresponding disease
MBL2 infections, recurrent, with chronic diarrhea
Location 10q21.1      Physical location : 54.525.140 - 54.531.460
Synonym name
  • mannan-binding lectin
  • opsonic defect
  • mannose-binding protein C
  • Synonym symbol(s) MAN-BP, MBL, MBP, COLEC1, MABC, HSMBPC, MBP1, MBP-C, MGC116832, MGC116833
    DNA
    TYPE functioning gene
    STRUCTURE 6.32 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3569 24 248 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    cell lineage
    cell lines
    fluid/secretion MAP19 present in urine
    at STAGE
    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