Gene
KCNJ6
potassium inwardly rectifying channel subfamily J member 6
- HGNC 6267↗(opens in a new tab)
- Ensembl gene ENSG00000157542↗(opens in a new tab)
- NCBI Gene 3763↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.13
- Coordinates
- Chromosome 21: 37,607,373–37,916,457 (GRCh38)
- Exons
- 4 exons across 309.1 kb
- Protein
- 423 amino acids
- Also known as
- Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2
- Previous symbols
- KCNJ7
- MANE Select transcript
- ENST00000609713.2NM_002240.5
- 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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No Genome Test report reads KCNJ6 yet. The test sequences your whole genome, so your data includes it all the same.
How KCNJ6 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 19.7 kb of the gene's 309.1 kb; 1,272 of those bases code for the protein.
How a genome test reads KCNJ6
2
positions in KCNJ6 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 309.1 kb of KCNJ6, introns included, not only the 19.7 kb of exons.
Traits linked to KCNJ6
The Human Phenotype Ontology lists these as features of the rare conditions KCNJ6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Congenital generalized lipodystrophy
- Scoliosis
- Absent fat below the skin
- Flexed joint that cannot be straightened
- Generalized lipodystrophy
- Inability to make and keep healthy fat tissue
- Opisthotonus
- Spastic tetraparesis
Show 2 more traits
Abnormality of the nervous system
- Increased reflexes
- Intellectual disability
- Epilepsy
- Febrile seizure (within the age range of 3 months to 6 years)
- Global developmental delay
- IQ less than 20
- Lateral ventricle dilatation
- Severe global developmental delay
Show 1 more trait
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.
- 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.). KCNJ6 gene: potassium inwardly rectifying channel subfamily J member 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnj6
Dante Labs. KCNJ6 gene: potassium inwardly rectifying channel subfamily J member 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnj6
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