KCNJ13
Potassium Inwardly Rectifying Channel Subfamily J Member 13
Gene Information Card
| Symbol | KCNJ13 |
|---|---|
| Full Name | Potassium Inwardly Rectifying Channel Subfamily J Member 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 3769 ncbi.nlm.nih.gov/gene/3769 |
| Ensembl ID | ENSG00000115464 |
| UniProt ID | O60928 |
| OMIM ID | 603208 |
| HGNC ID | 6259 |
| Aliases | Kir7.1, KCNJ13 |
Description
KCNJ13 encodes Kir7.1, an inwardly rectifying potassium channel that plays a critical role in maintaining ion homeostasis and membrane potential in various tissues, particularly the retinal pigment epithelium (RPE) and kidney. Mutations in KCNJ13 are associated with retinal dystrophies and renal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 16 (LCA16) | Loss-of-function mutations in KCNJ13 impair potassium transport in RPE cells, leading to photoreceptor degeneration. | ClinVar, OMIM |
| Snowflake vitreoretinal degeneration (SVD) | Dominant-negative mutations disrupt channel function, causing vitreous liquefaction and retinal detachment. | ClinVar, OMIM |
| SeSAME syndrome (EAST syndrome) | Mutations in KCNJ13 (and related genes) cause electrolyte imbalance, ataxia, and sensorineural deafness. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE) | 15.2 | High expression |
| HEK293 | 6.8 | Moderate expression |
| HepG2 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.158G>A (p.Arg53His) | Missense | Rare | Loss of function; associated with LCA16 |
| c.226C>T (p.Arg76Trp) | Missense | Rare | Dominant-negative; associated with SVD |
| c.458T>C (p.Leu153Pro) | Missense | Rare | Loss of function; retinal degeneration |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg53His reduce or abolish potassium conductance, leading to impaired RPE function and photoreceptor death.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for KCNJ13.
Dominant Negative (DN)
Mutations like p.Arg76Trp interfere with wild-type channel assembly, causing dominant retinal phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • inward rectifier potassium channel activity (GO:0005242) | • potassium ion transmembrane transport (GO:0071805) |
| • plasma membrane (GO:0005886) | • retinal pigment epithelium development (GO:0060218) |
Pathways
• Inwardly rectifying potassium channels
• Ion transport by P-type ATPases
Protein Summary
Kir7.1 is a 360-amino acid protein with two transmembrane domains and a pore-forming loop. It forms homotetrameric channels that conduct K+ ions into cells, regulating membrane potential and ion flux in RPE and renal epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNJ13 Knockout HEK293 Cell Line | EDJ-KQ5044 | Human | 3769 | Details Get a Quote |
| KCNJ13 Knockout HeLa Cell Line | EDJ-KQ53719 | Human | 3769 | Details Get a Quote |
| KCNJ13 Knockout A-549 Cell Line | EDJ-KQ62195 | Human | 3769 | Details Get a Quote |
| KCNJ13 Knockout HCT 116 Cell Line | EDJ-KQ70681 | Human | 3769 | Details Get a Quote |
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