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Gene

KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1

Summary

Cytogenetic location
21q22.12
Coordinates
Chromosome 21: 34,446,690–34,512,210 (GRCh38)
Exons
4 exons across 65.5 kb
Protein
129 amino acids
Also known as
minK, IsK, JLNS2, LQT5
MANE Select transcript
ENST00000399286.3NM_000219.6
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

  • Long QT Syndrome

    • A disorder of cardiac repolarisation marked by a prolonged QT interval and a risk of dangerous ventricular arrhythmias such as torsades de pointes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Beta-blockers, ICD placement, activity restriction, genetic counseling

How KCNE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where KCNE1 sits. KCNE1 and 11 genes near it on chromosome 21, from 33,979,450 to 34,979,449.Chromosome 2121q22.12p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.334 Mb34.2 Mb34.4 Mb34.6 Mb34.8 MbMRPS6: 34,072,889–34,362,252, forward strandMRPS6: 34,073,509–34,143,037, forward strandSLC5A3: 34,073,509–34,106,260, forward strandSLC5A3KCNE2: 34,180,729–34,371,390, forward strandKCNE2SMIM11: 34,375,107–34,416,961, forward strandSMIM11C21orf140: 34,400,112–34,401,072, reverse strandC21orf140SMIM34: 34,414,494–34,423,951, reverse strandSMIM34KCNE1: 34,446,690–34,512,210, reverse strandKCNE1: 34,511,122–34,614,913, reverse strandRCAN1: 34,513,142–34,615,323, reverse strandRCAN1CLIC6: 34,668,966–34,718,227, forward strandCLIC6RUNX1: 34,787,801–36,004,667, reverse strandRUNX1Diagram of KCNE1: 4 exons on the reverse strand of chromosome 21Exon 4: 23 known disease-causing sitesExon 4: 34,446,690–34,449,684, 2,995 basesExon 3: 34,458,654–34,458,764, 111 basesExon 2: 34,511,101–34,511,315, 215 basesExon 1: 34,512,027–34,512,210, 184 bases415′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 3.5 kb of the gene's 65.5 kb; 390 of those bases code for the protein.

How a genome test reads KCNE1

23

positions in KCNE1 where ClinVar classes a change as pathogenic or likely pathogenic

23 of them (100%) fall in regions short reads find hard.

  • Low mappability (23 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (23 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 65.5 kb of KCNE1, introns included, not only the 3.5 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.). KCNE1 gene: potassium voltage-gated channel subfamily E regulatory subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcne1

Vancouver

Dante Labs. KCNE1 gene: potassium voltage-gated channel subfamily E regulatory subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcne1

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