Gene

KCNJ13

potassium inwardly rectifying channel subfamily J member 13

Cytogenetic location: 2q37.1
Coordinates: Chromosome 2: 232,765,802–232,776,565 (GRCh38)
Exons: 3 exons across 10.8 kb
Protein: 360 amino acids
Inheritance: Autosomal recessive
Also known as: Kir7.1, Kir1.4, LCA16
MANE Select transcript: ENST00000233826.4NM_002242.4
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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Curated reports relevant to this gene

Leber Congenital Amaurosis & RPE65-Related Retinopathy
- Leber Congenital AmaurosisAutosomal recessive
  A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.
Vitreoretinopathy
- Vitreoretinal Degeneration
  - ClinGen rates the link moderate
  - 3 GenCC submitters rate it definitive or strong

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 KCNJ13 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites

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 3.6 kb of the gene's 10.8 kb; 1,083 of those bases code for the protein.

How a genome test reads KCNJ13

positions in KCNJ13 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 10.8 kb of KCNJ13, introns included, not only the 3.6 kb of exons.

Traits linked to KCNJ13

The Human Phenotype Ontology lists these as features of the rare conditions KCNJ13 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the eye

Show 34 more traits

Abnormality of the nervous system

Show 5 more traits

External links

Gene records

Transcript

Protein

Variants

Clinical

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.). KCNJ13 gene: potassium inwardly rectifying channel subfamily J member 13. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnj13

Vancouver

Dante Labs. KCNJ13 gene: potassium inwardly rectifying channel subfamily J member 13 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnj13

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