potassium two pore domain channel subfamily K member 4
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Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfacial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
gingival overgrowth
Intellectual disability
Seizure
Generalized hypertrichosis
Abnormal facial shape
hypertrichosis
Neurodevelopmental delay
Rolandic epilepsy
epilepsy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Potassium channel subfamily K member 4
K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate. Converts to voltage-independent 'leak' conductance mode upon stimulation by various stimuli including mechanical membrane stretch, basic pH, heat and lipids (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:26919430, PubMed:30290154, PubMed:38605031). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (PubMed:26919430). At trigeminal A-beta afferent nerves, the heterodimer of KCNK2/TREK-1 and KCNK4/TRAAK is mostly coexpressed at nodes of Ranvier where it conducts voltage-independent mechanosensitive and thermosensitive currents, allowing rapid action potential repolarization, high speed and high frequence saltatory conduction on myelinated nerves to ensure prompt sensory responses (By similarity). Permeable to other monovalent cations such as Rb(+) and Cs(+) (PubMed:26919430)
KCNK4 · Q9NYG8
Mean pLDDT
78.7/ 100
Confident
393 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
