Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50801
Gene name	Potassium two pore domain channel subfamily K member 4
Gene symbol	KCNK4
Synonyms (NCBI Gene)	FHEIGK2p4.1TRAAKTRAAK1
Chromosome	11
Chromosome location	11q13.1
Summary	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,

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017249	hsa-miR-335-5p	Microarray	18185580
MIRT1081852	hsa-miR-1304	CLIP-seq
MIRT1081853	hsa-miR-1827	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IDA	22282805
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS	10767409
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22282805
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	10767409
GO:0007613	Process	Memory	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	26919430
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019228	Process	Neuronal action potential	ISS
GO:0019233	Process	Sensory perception of pain	ISS
GO:0022841	Function	Potassium ion leak channel activity	IBA
GO:0022841	Function	Potassium ion leak channel activity	IDA	26919430
GO:0022841	Function	Potassium ion leak channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	IDA	22282805
GO:0042802	Function	Identical protein binding	IPI	22282805, 25471887
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050951	Process	Sensory perception of temperature stimulus	ISS
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	IEA
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	22282805, 26919430
GO:0071398	Process	Cellular response to fatty acid	IDA	22282805
GO:0071398	Process	Cellular response to fatty acid	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	26919430
GO:0071469	Process	Cellular response to alkaline pH	IEA
GO:0071469	Process	Cellular response to alkaline pH	ISS
GO:0071502	Process	Cellular response to temperature stimulus	IEA
GO:0071502	Process	Cellular response to temperature stimulus	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	22282805
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097604	Function	Temperature-gated cation channel activity	IEA
GO:0097604	Function	Temperature-gated cation channel activity	ISS
GO:0098782	Function	Mechanosensitive potassium channel activity	IDA	22282805, 38605031
GO:0098782	Function	Mechanosensitive potassium channel activity	IEA
GO:1904551	Process	Cellular response to arachidonate	IDA	26919430
GO:1990478	Process	Response to ultrasound	IDA	38605031

MIM	HGNC	e!Ensembl
605720	6279	ENSG00000182450

Q9NYG8

Protein name

Potassium channel subfamily K member 4 (TWIK-related arachidonic acid-stimulated potassium channel protein) (TRAAK) (Two pore potassium channel KT4.1) (K2P4.1) (Two pore K(+) channel KT4.1)

Protein function

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.

PDB

3UM7 , 4I9W , 4RUE , 4RUF , 4WFE , 4WFF , 4WFG , 4WFH , 7LJ4 , 7LJ5 , 7LJA , 7LJB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07885	Ion_trans_2	65 → 144	Ion channel	Family
PF07885	Ion_trans_2	165 → 259	Ion channel	Family

Sequence

MRSTTLLALLALVLLYLVSGALVFRALEQPHEQQAQRELGEVREKFLRAHPCVSDQELGL
LIKEVADALGGGADPETNSTSNSSHSAWDLGSAFFFSGTIITTIGYGNVALRTDAGRLFC
IFYALVGIPLFGILLAGVGDRLGSSLRHGIGHIEAIFLKWHVPPELVRVLSAMLFLLIGC
LLFVLTPTFVFCYMEDWSKLEAIYFVIVTLTTVGFGDYVAGADPRQDSPAYQPLVWFWIL
LGLAYFASVLTTIGNWLRVVSRRTRAEMGGLTAQAASWTGTVTARVTQRAGPAAPPPEKE
QPLLPPPPCPAQPLGRPRSPSPPEKAQPPSPPTASALDYPSENLAFIDESSDTQSERGCP
LPRAPRGRRRPNPPRKPVRPRGPGRPRDKGVPV

Sequence length

393

Interactions

View interactions

	Reactome
			TWIK related potassium channel (TREK) Phase 4 - resting membrane potential

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000681605 RCV000681606	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000767374 RCV000767375	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypertrichosis	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000681605 RCV000681606	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gingival overgrowth	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000681605 RCV000681606	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000681605 RCV000681606	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1565369746, rs1189909394	RCV000681605 RCV000681606	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Benign Rolandic epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL DISABILITY/DEVELOPMENTAL DELAY, GINGIVAL OVERGROWTH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM-HYPERTRICHOSIS-EPILEPSY-INTELLECTUAL DISABILITY/DEVELOPMENTAL DELAY-GINGIVAL OVERGROWTH SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNK4-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anus, Imperforate	Imperforate anus	BEFREE	31542828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25809865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30290154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30290154, 33594261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30290154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	30290154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	33594261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	31542828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	GENOMICS_ENGLAND_DG	30290154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	30290154, 33594261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30290154		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30290154	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zimmerman Laband syndrome	Zimmerman Laband Syndrome	BEFREE	31155282		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNK4 (potassium two pore domain channel subfamily K member 4)