KCNJ13

Chr 2q37.1

potassium inwardly rectifying channel subfamily J member 13

Aliases:: Kir7.1, Kir1.4, LCA16
MANE:: ENST00000233826.4

OMIM: 603208 ↗NCBI: 3769 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

KCNJ13 · O60928

v62025-08-01

Predicted Aligned Error matrix for KCNJ13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.0/ 100

Confident

360 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)27%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic dystrophies

Disease associations (Open Targets)

Leber congenital amaurosis 16
0.72
Leber congenital amaurosis
0.62
snowflake vitreoretinal degeneration
0.56
eye disorder
0.37
inherited retinal dystrophy
0.37
retinitis pigmentosa
0.27
coronary artery disorder
0.26
major depressive disorder
0.20
epistaxis
0.18
Retinal dystrophy
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inward rectifier potassium channel 13

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium