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Gene

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

Summary

Cytogenetic location
17q24.3
Coordinates
Chromosome 17: 70,169,532–70,180,044 (GRCh38)
Exons
2 exons across 10.5 kb
Protein
427 amino acids
Inheritance
Autosomal dominant
Also known as
Kir2.1, IRK1, LQT7
MANE Select transcript
ENST00000243457.4NM_000891.3
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 reports relevant to this gene

  • Familial Atrial Fibrillation

    • Autosomal dominant

      Atrial fibrillation running in families, linked to changes in genes such as KCNQ1, KCNJ2, GJA5, MYL4, NPPA and SCN5A.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it supports earlier ECG checks for relatives and timely discussion of stroke prevention.

  • Familial Periodic Paralysis

    • Periodic ParalysisAutosomal dominant

      Editor note: classified as genetic in ORDO but we treat as neutral here

      • 4 GenCC submitters rate it definitive or strong

  • 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.

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

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

  • Short Qt Syndrome

    • Autosomal dominant

      A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How KCNJ2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where KCNJ2 sits. KCNJ2 and 1 gene near it on chromosome 17, from 69,674,788 to 70,674,787.Chromosome 1717q24.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.369.8 Mb70 Mb70.2 Mb70.4 Mb70.6 MbKCNJ16: 70,053,429–70,135,608, forward strandKCNJ16KCNJ2: 70,169,532–70,180,044, forward strandKCNJ2Diagram of KCNJ2: 2 exons on the forward strand of chromosome 17Exon 2: 49 known disease-causing sitesExon 1: 70,169,532–70,169,701, 170 basesExon 2: 70,174,824–70,180,044, 5,221 bases125′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 5.4 kb of the gene's 10.5 kb; 1,284 of those bases code for the protein.

How a genome test reads KCNJ2

50

positions in KCNJ2 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 10.5 kb of KCNJ2, introns included, not only the 5.4 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.). KCNJ2 gene: potassium inwardly rectifying channel subfamily J member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnj2

Vancouver

Dante Labs. KCNJ2 gene: potassium inwardly rectifying channel subfamily J member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnj2

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