KCNK4
This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802.
Full Name
potassium two pore domain channel subfamily K member 4
Function
Voltage-insensitive potassium channel (PubMed:22282805).
Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:30290154).
Channel opening is triggered by raising the intracellular pH to basic levels (By similarity).
The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity).
Plays a role in the perception of pain caused by heat (By similarity).
Plays a role in the sensory perception of pain caused by pressure (By similarity).
Biological Process
Cellular response to alkaline pHISS:UniProtKB
Cellular response to fatty acidManual Assertion Based On ExperimentIDA:UniProtKB
Cellular response to mechanical stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Cellular response to temperature stimulusISS:UniProtKB
Detection of mechanical stimulus involved in sensory perception of touchISS:UniProtKB
MemoryIEA:Ensembl
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Regulation of ion transmembrane transportIEA:UniProtKB-KW
Sensory perception of painISS:UniProtKB
Sensory perception of temperature stimulusISS:UniProtKB
Stabilization of membrane potentialManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cell membrane
Involvement in disease
Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG):
An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip.
Topology
Cytoplasmic: 1-3
Helical: 4-24
Extracellular: 25-87
Helical: 88-109
Extracellular: 110-117
Helical: 118-150
Cytoplasmic: 151-172
Helical: 173-194
Extracellular: 195-199
Helical: 200-219
Extracellular: 220-233
Helical: 234-260
Cytoplasmic: 261-393