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Gene

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

Summary

Cytogenetic location
11q24.3
Coordinates
Chromosome 11: 128,891,356–128,921,163 (GRCh38)
Exons
3 exons across 29.8 kb
Protein
419 amino acids
Inheritance
Autosomal dominant
Also known as
Kir3.4, CIR, KATP1, GIRK4, LQT13
MANE Select transcript
ENST00000529694.6NM_000890.5
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

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Familial HyperaldosteronismAutosomal dominant

      A group of conditions, including glucocorticoid-remediable aldosteronism (CYP11B1/CYP11B2) and forms caused by CLCN2, KCNJ5 or CACNA1H, in which the adrenal glands make too much aldosterone, causing high blood pressure.

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

      Knowing about it guides treatment (dexamethasone for glucocorticoid-remediable aldosteronism, aldosterone-blocking drugs more generally) and supports screening of relatives.

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 KCNJ5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where KCNJ5 sits. KCNJ5 and 6 genes near it on chromosome 11, from 128,406,260 to 129,406,259.Chromosome 1111q24.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25128.6 Mb128.8 Mb129 Mb129.2 Mb129.4 MbETS1: 128,458,761–128,587,611, reverse strandETS1FLI1: 128,686,535–128,813,267, forward strandFLI1KCNJ1: 128,836,315–128,874,671, reverse strandKCNJ1KCNJ5: 128,891,356–128,921,163, forward strandKCNJ5TP53AIP1: 128,934,731–128,943,399, reverse strandTP53AIP1ARHGAP32: 128,965,060–129,279,324, reverse strandARHGAP32BARX2: 129,375,761–129,452,279, forward strandBARX2Diagram of KCNJ5: 3 exons on the forward strand of chromosome 11Exon 2: 3 known disease-causing sitesExon 1: 128,891,356–128,891,721, 366 basesExon 2: 128,911,264–128,912,210, 947 basesExon 3: 128,916,409–128,921,163, 4,755 bases1235′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 6.1 kb of the gene's 29.8 kb; 1,260 of those bases code for the protein.

How a genome test reads KCNJ5

3

positions in KCNJ5 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 29.8 kb of KCNJ5, introns included, not only the 6.1 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.). KCNJ5 gene: potassium inwardly rectifying channel subfamily J member 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnj5

Vancouver

Dante Labs. KCNJ5 gene: potassium inwardly rectifying channel subfamily J member 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnj5

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