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KCNA3

Chr 1p13.3

potassium voltage-gated channel subfamily A member 3

Aliases:
Kv1.3, MK3, HLK3, HPCN3, RP11-284N8.3
MANE:
ENST00000369769.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • multiple sclerosis

    0.60
  • Lambert-Eaton myasthenic syndrome

    0.56
  • myasthenia gravis

    0.56
  • neurodevelopmental disorder

    0.53
  • congenital myasthenic syndrome

    0.49
  • Congenital myasthenic syndromes

    0.49
  • Muscle weakness

    0.46
  • neoplasm

    0.39
  • epilepsy

    0.39
  • cancer

    0.39

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

Protein function (UniProt)

Potassium voltage-gated channel subfamily A member 3

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient

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.