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Gene

KCNH5

potassium voltage-gated channel subfamily H member 5

Summary

Cytogenetic location
14q23.2
Coordinates
Chromosome 14: 62,699,464–63,045,458 (GRCh38)
Exons
11 exons across 346 kb
Protein
988 amino acids
Also known as
Kv10.2, H-EAG2, eag2, hEAG2
MANE Select transcript
ENST00000322893.12NM_139318.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong

    How KCNH5 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 14, with a bracket where KCNH5 sits. KCNH5 and 3 genes near it on chromosome 14, from 62,353,469 to 63,391,453.Chromosome 1414q23.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3362.4 Mb62.6 Mb62.8 Mb63 Mb63.2 MbKCNH5: 62,699,464–63,045,458, reverse strandKCNH5RHOJ: 63,204,114–63,293,518, forward strandRHOJGPHB5: 63,312,835–63,318,935, reverse strandGPHB5PPP2R5E: 63,368,861–63,543,410, reverse strandPPP2R5EDiagram of KCNH5: 11 exons on the reverse strand of chromosome 14Exon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 11: 62,699,464–62,708,455, 8,992 basesExon 10: 62,779,728–62,779,924, 197 basesExon 9: 62,802,329–62,802,581, 253 basesExon 8: 62,849,653–62,849,852, 200 basesExon 7: 62,950,133–62,950,559, 427 basesExon 6: 62,980,872–62,981,264, 393 basesExon 5: 62,987,072–62,987,187, 116 basesExon 4: 63,001,331–63,001,459, 129 basesExon 3: 63,006,366–63,006,472, 107 basesExon 2: 63,016,831–63,016,954, 124 basesExon 1: 63,045,114–63,045,458, 345 bases1110864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 11.3 kb of the gene's 346 kb; 2,967 of those bases code for the protein.

    How a genome test reads KCNH5

    4

    positions in KCNH5 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 346 kb of KCNH5, introns included, not only the 11.3 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). KCNH5 gene: potassium voltage-gated channel subfamily H member 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnh5

    Vancouver

    Dante Labs. KCNH5 gene: potassium voltage-gated channel subfamily H member 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnh5

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