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Gene

KCNB1

potassium voltage-gated channel subfamily B member 1

Summary

Cytogenetic location
20q13.13
Coordinates
Chromosome 20: 49,363,877–49,482,668 (GRCh38)
Exons
2 exons across 118.8 kb
Protein
858 amino acids
Also known as
Kv2.1
MANE Select transcript
ENST00000371741.6NM_004975.4
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.

        • 4 GenCC submitters rate it definitive or strong

    How KCNB1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 20, with a bracket where KCNB1 sits. KCNB1 and 9 genes near it on chromosome 20, from 48,923,273 to 49,923,272.Chromosome 2020q13.13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3349 Mb49.2 Mb49.4 Mb49.6 Mb49.8 MbARFGEF2: 48,921,707–49,036,693, forward strandARFGEF2CSE1L: 49,046,246–49,097,033, forward strandCSE1LSTAU1: 49,113,324–49,188,417, reverse strandSTAU1DDX27: 49,219,347–49,244,077, forward strandDDX27ZNFX1: 49,237,946–49,278,473, reverse strandZNFX1KCNB1: 49,363,877–49,482,668, reverse strandKCNB1PTGIS: 49,503,874–49,568,333, reverse strandPTGISB4GALT5: 49,632,945–49,713,949, reverse strandB4GALT5SLC9A8: 49,812,677–49,892,242, forward strandSLC9A8SPATA2: 49,903,391–49,915,759, reverse strandSPATA2Diagram of KCNB1: 2 exons on the reverse strand of chromosome 20Exon 2: 68 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 2: 49,363,877–49,374,992, 11,116 basesExon 1: 49,481,914–49,482,668, 755 bases215′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 11.9 kb of the gene's 118.8 kb; 2,577 of those bases code for the protein.

    How a genome test reads KCNB1

    70

    positions in KCNB1 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 118.8 kb of KCNB1, introns included, not only the 11.9 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.). KCNB1 gene: potassium voltage-gated channel subfamily B member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnb1

    Vancouver

    Dante Labs. KCNB1 gene: potassium voltage-gated channel subfamily B member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnb1

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