KCNJ8

Chr 12p12.1

potassium inwardly rectifying channel subfamily J member 8

Aliases:: Kir6.1
MANE:: ENST00000240662.3

OMIM: 600935 ↗NCBI: 3764 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

KCNJ8 · Q15842

v62025-08-01

Predicted Aligned Error matrix for KCNJ8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.1/ 100

Confident

424 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)22%
Low(50–70)9%
Very low(< 50)8%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sudden death in young people
Unknown
Brugada syndrome and cardiac sodium channel disease
Unknown
Idiopathic ventricular fibrillation
Unknown
Short QT syndrome
Unknown

Disease associations (Open Targets)

hypertrichotic osteochondrodysplasia Cantu type
0.61
sudden infant death syndrome
0.58
Hypoglycemia
0.48
Hypertrichotic osteochondrodysplasia, Cantu type
0.45
Hypertension
0.37
hypertensive disorder
0.37
hyperinsulinemic hypoglycemia
0.37
hyperinsulinism
0.37
pancreatic insulinoma
0.37
Hyperinsulinemia
0.27

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

Protein function (UniProt)

ATP-sensitive inward rectifier potassium channel 8

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). 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 (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with ABCC9 (By similarity)