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CLEC3B

Chr 3p21.31

C-type lectin domain family 3 member B

Aliases:
TN
MANE:
ENST00000296130.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • macular dystrophy, retinal, 4

    0.45
  • neurodegenerative disease

    0.31
  • inborn disorder of amino acid metabolism

    0.25
  • Parkinson disease

    0.23
  • Alzheimer disease

    0.22
  • lysosomal storage disease

    0.22
  • multiple sclerosis

    0.22
  • autoimmune disorder of central nervous system

    0.16
  • hepatocellular carcinoma

    0.11
  • neoplasm

    0.11

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

Protein function (UniProt)

Tetranectin

Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis. Plays a role in retinal function (PubMed:35331648)

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.