Gene
KCNJ1
potassium inwardly rectifying channel subfamily J member 1
- HGNC 6255(opens in a new tab)
- Ensembl gene ENSG00000151704(opens in a new tab)
- NCBI Gene 3758(opens in a new tab)
Summary
- Cytogenetic location
- 11q24.3
- Coordinates
- Chromosome 11: 128,838,020–128,867,296 (GRCh38)
- Exons
- 3 exons across 29.3 kb
- Protein
- 372 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Kir1.1, ROMK1
- MANE Select transcript
- ENST00000392666.6NM_153766.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Bartter Disease
- Bartter Disease Type 2Autosomal recessive
Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- Bartter Syndrome
A group of inherited salt-wasting kidney tubule disorders, caused by genes such as SLC12A1, KCNJ1, CLCNKB, BSND and CASR, with low potassium, metabolic alkalosis and high urine calcium.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing guides salt and potassium replacement and monitoring of growth and kidney calcification.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How KCNJ1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 2.5 kb of the gene's 29.3 kb; 1,119 of those bases code for the protein.
How a genome test reads KCNJ1
47
positions in KCNJ1 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 29.3 kb of KCNJ1, introns included, not only the 2.5 kb of exons.
Traits linked to KCNJ1
The Human Phenotype Ontology lists these as features of the rare conditions KCNJ1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). KCNJ1 gene: potassium inwardly rectifying channel subfamily J member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/kcnj1
Dante Labs. KCNJ1 gene: potassium inwardly rectifying channel subfamily J member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kcnj1
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