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MBL2

Chr 10q21.1

mannose binding lectin 2

Aliases:
COLEC1, MBP-C, MBP1, MBP
MANE:
ENST00000674931.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • bone fracture

    0.43
  • COVID-19

    0.40
  • dengue disease

    0.39
  • complement deficiency

    0.37
  • pernicious anemia

    0.32
  • placental abruption

    0.32
  • ulna fracture

    0.30
  • radius fracture

    0.30
  • androgenetic alopecia

    0.30
  • Abnormal nasolacrimal system morphology

    0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mannose-binding protein C

Calcium-dependent lectin, which acts as a pattern recognition receptor that initiates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:14515269, PubMed:22966085, PubMed:7634089, PubMed:9087411). Specifically recognizes and binds the mannose moiety of carbohydrates on the pathogen surface, activating the MASP1 serine protease and initiating the proteolytic cascade of the lectin complement pathway (PubMed:22966085, PubMed:2573758, PubMed:6643429, PubMed:8082295, PubMed:9087411). Upon SARS coronavirus-2/SARS-CoV-2 infection, activates the complement lectin pathway which leads to the inhibition SARS-CoV-2 infection and a reduction of the induced inflammatory response (PubMed:35102342). May bind DNA (PubMed:15145932)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.