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APOA2

Chr 1q23.3

apolipoprotein A2

MANE:
ENST00000367990.7
OMIM: 107670 ↗NCBI: 336 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Familial hypercholesterolaemia

Disease associations (Open Targets)

  • apolipoprotein A-II amyloidosis

    0.40

  • amyloidosis

    0.38

  • hypercholesterolemia, familial, 1

    0.34

  • pancreatic neoplasm

    0.10

  • familial pancreatic carcinoma

    0.10

  • pachyonychia congenita

    0.09

  • Alzheimer disease

    0.09

  • myocardial infarction

    0.08

  • atrial fibrillation

    0.08

  • hyperlipoproteinemia type V

    0.08

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

Protein function (UniProt)

Apolipoprotein A-II

May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism

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.