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COLEC10

Chr 8q24.12

collectin subfamily member 10

Aliases:
CL-L1, CL-10
MANE:
ENST00000332843.3

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

  • Rare syndromic craniosynostosis or isolated multisuture synostosis

  • Skeletal dysplasia

Disease associations (Open Targets)

  • 3MC syndrome

    0.71
  • hypothyroidism

    0.43
  • Microscopic hematuria

    0.38
  • basal cell carcinoma

    0.31
  • osteoporosis

    0.31
  • keratinocyte carcinoma

    0.29
  • bone disorder

    0.29
  • infectious meningitis

    0.28
  • nasal cavity polyp

    0.15
  • hepatocellular carcinoma

    0.12

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

Protein function (UniProt)

Collectin-10

Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine (PubMed:10224141). Acts as a chemoattractant, probably involved in the regulation of cell migration (PubMed:28301481)

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.