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KCNV2

Chr 9p24.2

potassium voltage-gated channel modifier subfamily V member 2

Aliases:
Kv8.2
MANE:
ENST00000382082.4
OMIM: 607604 ↗NCBI: 169522 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Glaucoma (developmental)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cone dystrophy with supernormal rod response

    0.78

  • Retinal dystrophy

    0.69

  • myasthenia gravis

    0.59

  • multiple sclerosis

    0.59

  • Lambert-Eaton myasthenic syndrome

    0.56

  • congenital myasthenic syndrome

    0.49

  • Congenital myasthenic syndromes

    0.49

  • cone dystrophy

    0.49

  • Muscle weakness

    0.46

  • Cone rod dystrophy

    0.45

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

Protein function (UniProt)

Potassium voltage-gated channel subfamily V member 2

Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values

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.