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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KCNJ13
potassium inwardly rectifying channel subfamily J member 13
Chromosome 2 Β· 2q37.1
NCBI Gene: 3769Ensembl: ENSG00000115474.7HGNC: HGNC:6259UniProt: O60928
38PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inward rectifier potassium channel activityintracellular potassium ion homeostasisregulation of membrane potentialplasma membraneLeber congenital amaurosis 16snowflake vitreoretinal degenerationLeber congenital amaurosiseye disease
✦AI Summary

KCNJ13 encodes Kir7.1, an inward-rectifying potassium channel with distinctive biophysical properties including very low single-channel conductance and low sensitivity to external barium/cesium blockade [UniProt]. The channel mediates potassium ion homeostasis and membrane potential regulation, with particular importance in retinal pigment epithelium (RPE) and tracheal smooth muscle. In the RPE, KCNJ13 is essential for phagocytosis of photoreceptor outer segments; KCNJ13-knockout RPE cells demonstrate significantly reduced phagocytic activity and altered expression of phagocytosis-related genes 1. Loss of Kir7.1 in RPE causes increased oxidative stress vulnerability, leading to cell death and morphological abnormalities 2. Conditional RPE-specific loss of Kcnj13 triggers progressive photoreceptor degeneration and reduced light response 3. Beyond the retina, KCNJ13 regulates cytoskeletal organization in tracheal smooth muscle cells by maintaining ion homeostasis required for actin polymerization, acting partly through AKT-mediated signaling 4. Disease mutations cause Leber congenital amaurosis type 16 (LCA16), a rare pediatric blindness 5, and snowflake vitreoretinal degeneration, presenting with retinoschisis, macular holes, and crystalline retinopathy 6. Base-editor genome therapy successfully corrected KCNJ13 mutations in RPE cells and preserved vision in LCA16 mouse models 5.

Sources cited
1
KCNJ13 knockout reduces phagocytic activity and phagocytosis-related gene expression in RPE cells
PMID: 32437550
2
KCNJ13 maintains ion homeostasis required for actin polymerization and smooth muscle cytoskeletal organization through AKT signaling
PMID: 30022023
3
Base editor therapy corrects KCNJ13 mutations and preserves vision in LCA16 mouse models
PMID: 37561581
4
KCNJ13 deficiency increases RPE cell vulnerability to oxidative stress and cell death
PMID: 36413373
5
KCNJ13 mutations cause snowflake vitreoretinal degeneration presenting with retinoschisis and macular holes
PMID: 36440807
6
Conditional loss of Kcnj13 in RPE causes photoreceptor degeneration and reduced light response
PMID: 30009826
Disease Associationsβ“˜22
Leber congenital amaurosis 16Open Targets
0.72Strong
snowflake vitreoretinal degenerationOpen Targets
0.56Moderate
Leber congenital amaurosisOpen Targets
0.54Moderate
eye diseaseOpen Targets
0.37Weak
inherited retinal dystrophyOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.33Weak
major depressive disorderOpen Targets
0.28Weak
retinitis pigmentosaOpen Targets
0.27Weak
epistaxisOpen Targets
0.25Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.20Weak
Retinal dystrophyOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.12Weak
Nasal Cavity PolypOpen Targets
0.11Weak
coronary atherosclerosisOpen Targets
0.11Weak
Nasal polyposisOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
heart diseaseOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.08Suggestive
breast carcinomaOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
Leber congenital amaurosis 16UniProt
Snowflake vitreoretinal degenerationUniProt
Pathogenic Variants11
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)Pathogenic
Snowflake vitreoretinal degeneration|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 162
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)Pathogenic
Leber congenital amaurosis 16|Leber congenital amaurosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 153
NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)Likely pathogenic
Leber congenital amaurosis 16|Retinitis pigmentosa
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)Pathogenic
not provided|Leber congenital amaurosis 16
β˜…β˜†β˜†β˜†2024β†’ Residue 120
NM_002242.4(KCNJ13):c.403del (p.Ile135fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 135
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)Pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†2016β†’ Residue 53
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)Pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†2011β†’ Residue 241
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)Pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†2011β†’ Residue 166
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)Likely pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†β†’ Residue 105
NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)Pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†β†’ Residue 219
NM_002242.4(KCNJ13):c.494del (p.Asn165fs)Pathogenic
Leber congenital amaurosis 16
β˜†β˜†β˜†β˜†β†’ Residue 165
View on ClinVar β†—
Related Genes
KCNE3Protein interaction100%KCNK5Protein interaction94%KCNN4Protein interaction94%KCNQ1Protein interaction93%KCNJ4Shared pathway50%KCNJ6Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
57%
Ovary
5%
Liver
4%
Lung
2%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNJ13KCNE3KCNK5KCNN4KCNQ1KCNJ4KCNJ6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60928
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.63Intermediate
Observed/Expected LoF0.37 [0.22–0.64]
RankingsWhere KCNJ13 stands among ~20K protein-coding genes
  • #10,498of 20,598
    Most Researched38
  • #2,794of 5,498
    Most Pathogenic Variants11
  • #4,580of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedKCNJ13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells.
PMID: 32437550
Invest Ophthalmol Vis Sci Β· 2020
1.00
2
The potassium channel KCNJ13 is essential for smooth muscle cytoskeletal organization during mouse tracheal tubulogenesis.
PMID: 30022023
Nat Commun Β· 2018
0.90
3
Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy.
PMID: 37561581
J Clin Invest Β· 2023
0.80
4
Genomic structure and promoter analysis of the rat kir7.1 potassium channel gene (Kcnj13).
PMID: 11042260
FEBS Lett Β· 2000
0.70
5
Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress-Induced Cell Death.
PMID: 36413373
Invest Ophthalmol Vis Sci Β· 2022
0.60