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COLEC11

Chr 2p25.3

collectin subfamily member 11

Aliases:
MGC3279, CL-K1, CL-11
MANE:
ENST00000349077.9

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

    BIALLELIC, autosomal or pseudoautosomal
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    Unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

Disease associations (Open Targets)

  • 3MC syndrome 2

    0.79
  • 3MC syndrome

    0.71
  • Abnormality of the skeletal system

    0.57
  • hereditary disease

    0.41
  • metabolic syndrome

    0.36
  • metabolic dysfunction-associated steatotic liver disease

    0.36
  • cervical carcinoma

    0.24
  • Abnormal nasolacrimal system morphology

    0.23
  • Chorioretinal scar

    0.22
  • kidney transplant

    0.18

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

Protein function (UniProt)

Collectin-11

Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:21258343, PubMed:23954398, PubMed:25912189). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, 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.