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SLC4A3

Chr 2q35

solute carrier family 4 member 3

Aliases:
AE3, SLC2C
MANE:
ENST00000358055.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Short QT syndrome

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Familial short QT syndrome

    0.44
  • short QT syndrome 7

    0.43
  • short QT syndrome

    0.23
  • ulcerative colitis

    0.22
  • hereditary disease

    0.20
  • ventricular fibrillation

    0.19
  • cardiac arrest

    0.18
  • Abnormality of the cardiovascular system

    0.16
  • Abnormality of the skeletal system

    0.15
  • cholelithiasis

    0.15

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

Protein function (UniProt)

Anion exchange protein 3

Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:29167417, PubMed:7923606). May be involved in the regulation of intracellular pH, and the modulation of cardiac action potential (PubMed:29167417)

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.