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CLEC16A

Chr 16p13.13

C-type lectin domain containing 16A

Aliases:
Gop-1
MANE:
ENST00000409790.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypothyroidism

    0.41
  • asthma

    0.37
  • type 1 diabetes mellitus

    0.36
  • thyroid gland disorder

    0.34
  • systemic lupus erythematosus

    0.34
  • nephrotic syndrome

    0.33
  • multiple sclerosis

    0.32
  • atopic eczema

    0.31
  • dermatitis

    0.30
  • acne

    0.30

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

Protein function (UniProt)

Protein CLEC16A

Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteasomal degradation, RNF41/NRDP1 which regulates proteasomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health

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.