Version: 8.0.0
Date: Tue Jan 28 2025
MBL2
Homo sapiensHGNC:6922
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

MBL2

Species
Homo sapiens
Symbol
MBL2
Name
mannose binding lectin 2
Synonyms
  • COLEC1
  • collectin-1
Biotype
protein coding gene
Automated Description
Enables several functions, including D-mannose binding activity; calcium-dependent protein binding activity; and identical protein binding activity. Involved in several processes, including antiviral innate immune response; cell surface pattern recognition receptor signaling pathway; and positive regulation of opsonization. Acts upstream of or within complement activation, lectin pathway and defense response to Gram-positive bacterium. Located in extracellular space. Part of serine-type endopeptidase complex. Implicated in several diseases, including autoimmune disease (multiple); bacterial infectious disease (multiple); fungal infectious disease (multiple); liver disease (multiple); and lung disease (multiple). Biomarker of several diseases, including Legionnaires' disease; autoimmune disease (multiple); coccidioidomycosis; liver disease (multiple); and lung disease (multiple).
RGD Description
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 and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24024
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          MBL2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            MBL2 role
            MBL2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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