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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
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
    Physical map
    LOC387678 10 similar to ARF GTPase-activating protein LOC389965 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) LOC387679 10 similar to KIAA0592 protein LOC387680 10 similar to KIAA0592 protein LOC389966 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) ASAH2 10q11.21 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 LOC387681 10 hypothetical gene supported by BT007130; NM_001378 MOB 10q11.2 mob protein LOC340858 10q21.1 similar to hypothetical protein FLJ10539 FLJ31958 10q21.1 hypothetical protein FLJ31958 LOC389967 10 similar to bA182L21.1 (novel protein similar to hypothetical proteins) LOC389968 10 similar to Cathepsin L preproprotein LOC283023 10q21.1 similar to Geranylgeranyl transferase type I beta subunit (Type I protein geranyl-geranyltransferase beta subunit) (GGTase-I-beta) ACF 10q21,1 similar to Geranylgeranyl transferase type I beta subunit (Type I protein geranyl-geranyltransferase beta subunit) (GGTase-I-beta) PRKG1 10q11.2 protein kinase, cGMP-dependent, type I CSTF2T 10q22-q23 protein kinase, cGMP-dependent, type I DKK1 10q11.2 dickkopf homolog 1 (Xenopus laevis) LOC389969 10 similar to ribosomal protein L31 LOC387682 10 similar to 52 kDa repressor of the inhibitor of the protein kinase (p58IPK-interacting protein) (58 kDa interferon-induced protein kinase-interacting protein) (P52rIPK) (Death associated protein 4) (THAP domain protein 0) MBL2 10q11.2-q21 mannose-binding lectin (protein C) 2, soluble (opsonic defect) LOC387683 10 LOC387683 PCDH15 10q21.1 protocadherin 15
    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