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APOC2

Chr 19q13.32

apolipoprotein C2

MANE:
ENST00000252490.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Familial chylomicronaemia syndrome (FCS)

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Severe hypertriglyceridaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

  • Familial hypercholesterolaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial apolipoprotein C-II deficiency

    0.77
  • Hyperlipoproteinemia type 1

    0.66
  • Abnormality of the cardiovascular system

    0.47
  • familial chylomicronemia syndrome

    0.38
  • amyloidosis

    0.38
  • Alzheimer disease

    0.26
  • coronary artery disorder

    0.18
  • Hypercholesterolemia

    0.16
  • heart disorder

    0.15
  • hyperlipidemia

    0.14

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

Protein function (UniProt)

Apolipoprotein C-II

Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL

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.