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GenoLensGenoLens

FCN3

Chr 1p36.11

ficolin 3

Aliases:
FCNH, HAKA1
MANE:
ENST00000270879.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency due to ficolin3 deficiency

    0.53
  • complement deficiency

    0.37
  • rheumatic heart disease

    0.23
  • hepatocellular carcinoma

    0.13
  • microcephaly

    0.11
  • neoplasm

    0.10
  • systemic lupus erythematosus

    0.10
  • leprosy

    0.08
  • cancer

    0.08
  • gout

    0.08

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

Protein function (UniProt)

Ficolin-3

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:11907111, PubMed:15804047, PubMed:17215869, PubMed:26133042). Specifically recognizes and binds carbohydrates on the pathogen surface, activating the MASP1 serine protease and initiating the proteolytic cascade of the lectin complement pathway (PubMed:15804047, PubMed:17215869, PubMed:26133042). Specifically binds N-Acetylglucosamine (GlcNAc,) GalNAc (N-acetylgalactosamine) and D-fucose on the surface of pathogens, as well as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota (PubMed:17215869)

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.