KCNJ6

Chr 21q22.13

potassium inwardly rectifying channel subfamily J member 6

Aliases:: Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2
MANE:: ENST00000609713.2

OMIM: 600877 ↗NCBI: 3763 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCNJ6 · P48051

v62025-08-01

Predicted Aligned Error matrix for KCNJ6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.7/ 100

Confident

423 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)9%
Low(50–70)7%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe insulin resistance and lipodystrophy syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Keppen-Lubinsky syndrome
0.72
mathematical ability
0.43
intelligence
0.37
alcohol drinking
0.31
cervical carcinoma
0.31
placental abruption
0.30
autism spectrum disorder
0.30
risk-taking behaviour
0.30
lymphatic system disorder
0.30
esophageal ulcer
0.30

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

Protein function (UniProt)

G protein-activated inward rectifier potassium channel 2

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. This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G protein-coupled receptors