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    MBL2 mannose binding lectin 2 [ Homo sapiens (human) ]

    Gene ID: 4153, updated on 14-Jun-2016
    Official Symbol
    MBL2provided by HGNC
    Official Full Name
    mannose binding lectin 2provided by HGNC
    Primary source
    HGNC:HGNC:6922
    See related
    Ensembl:ENSG00000165471 HPRD:01107; MIM:154545; Vega:OTTHUMG00000150270
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MBL; MBP; MBP1; MBPD; MBL2D; MBP-C; COLEC1; HSMBPC
    Summary
    This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    10q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (52764977..52772845, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (54525140..54532578, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1468 Neighboring gene uncharacterized LOC105378305 Neighboring gene uncharacterized LOC105378307 Neighboring gene uncharacterized LOC105378306 Neighboring gene uncharacterized LOC105378308

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mannose-binding protein deficiency
    MedGen: C1835140 OMIM: 614372 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120/MBL complex co-localizes with MAP2 and is transported along the microtubules in human primary neurons PubMed
    env HIV-1 gp120/MBL complex co-localizes with intracellular COPII vesicle markers Sec31A and Sec13 in neuronal cells PubMed
    env HIV-1 gp120/MBL complex co-localizes with the ER marker Erp57 and the Golgi marker p230 at subcellular perinuclear compartments in neuronal cells PubMed
    env MBL interacts directly with HIV-1 gp120 at perinuclear vesicles in neuronal cells, in which the functional carbonhydrate recognition domain of MBL is required PubMed
    env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env Treatment of HIV-1 gp120 with endoglycosidase H (eH) or endoglycosidase F1 (eF1) abrogates binding of MBL PubMed
    env DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120/gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells PubMed
    env Activation of the classical complement pathway by HIV-1 gp120 is initiated by the binding of MBP to carbohydrate side chains of gp120 PubMed

    Go to the HIV-1, Human Interaction Database

    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
    • Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
      Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2.The classical pathway is triggered by activation of the C1-complex, which consists of hexameric molecule C1q and a tetramer comprising t...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Initial triggering of complement, organism-specific biosystem (from REACTOME)
      Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lectin pathway of complement activation, organism-specific biosystem (from REACTOME)
      Lectin pathway of complement activation, organism-specific biosystemActivation of the lectin pathway (LP) is initiated by Mannose-binding lectin (MBL), the hetero-complex CL-LK formed from COLEC11 (Collectin liver 1, CL-L1) and COLEC10 (Collectin kidney 1, CL-K1), an...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
      Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC116832, MGC116833

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mannose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mannose binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mannose binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    acute-phase response TAS
    Traceable Author Statement
    more info
    PubMed 
    complement activation TAS
    Traceable Author Statement
    more info
     
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    complement activation, lectin pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement activation, lectin pathway IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    complement activation, lectin pathway TAS
    Traceable Author Statement
    more info
     
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to bacterium TAS
    Traceable Author Statement
    more info
    PubMed 
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    killing by host of symbiont cells IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of growth of symbiont in host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of viral process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    opsonization TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface TAS
    Traceable Author Statement
    more info
    PubMed 
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    mannose-binding protein C
    Names
    collectin-1
    mannan-binding lectin
    mannose-binding lectin (protein C) 2, soluble (opsonic defect)
    mannose-binding lectin 2, soluble (opsonic defect)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008196.1 RefSeqGene

      Range
      5001..11321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_154

    mRNA and Protein(s)

    1. NM_000242.2NP_000233.1  mannose-binding protein C precursor

      See identical proteins and their annotated locations for NP_000233.1

      Status: REVIEWED

      Source sequence(s)
      AL731550
      Consensus CDS
      CCDS7247.1
      UniProtKB/Swiss-Prot
      P11226
      Related
      ENSP00000363079, OTTHUMP00000019622, ENST00000373968, OTTHUMT00000048115
      Conserved Domains (1) summary
      cd03591
      Location:136246
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      52764977..52772845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717861.3XP_006717924.1  

      See identical proteins and their annotated locations for XP_006717924.1

      UniProtKB/Swiss-Prot
      P11226
      Conserved Domains (1) summary
      cd03591
      Location:136246
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
    2. XM_011539816.2XP_011538118.1  

      See identical proteins and their annotated locations for XP_011538118.1

      UniProtKB/Swiss-Prot
      P11226
      Conserved Domains (1) summary
      cd03591
      Location:136246
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      54806939..54813257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)