KCNK4 - potassium two pore domain channel subfamily K member 4 Gene

Homo sapiens

Also known as FHEIG; TRAAK; K2p4.1; TRAAK1

Gene ID: 50801 | Gene type: protein coding

About KCNK4

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,291,302-64,300,031 (from NCBI)

This gene has 11 transcripts (splice variants), 263 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 1.0), placenta (RPKM 0.2) and 2 other tissues.

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, 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. [provided by RefSeq, Nov 2015]

KCNK4 Products(2)

mRNA	Protein	Name
NM_001317090.2	NP_001304019.1	potassium channel subfamily K member 4 precursor
NM_033310.3	NP_201567.1	potassium channel subfamily K member 4 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22282805	GOA
enables mechanosensitive potassium channel activity	IDA IDA: Inferred from direct assay	22282805	GOA
enables outward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	26919430	GOA
enables potassium channel activity	IDA IDA: Inferred from direct assay	22282805	GOA
enables potassium ion leak channel activity	IDA IDA: Inferred from direct assay	26919430	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to acidic pH	IDA IDA: Inferred from direct assay	26919430	GOA
involved in cellular response to arachidonate	IDA IDA: Inferred from direct assay	26919430	GOA
involved in cellular response to fatty acid	IDA IDA: Inferred from direct assay	22282805	GOA
involved in cellular response to mechanical stimulus	IDA IDA: Inferred from direct assay	22282805	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	22282805	GOA
involved in response to ultrasound	IDA IDA: Inferred from direct assay	38605031	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22282805	GOA
part of potassium channel complex	IDA IDA: Inferred from direct assay	22282805	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNK4 Protein Structure

Ion_trans_2

0
100
200
300
393 a.a.

Protein Preferred Names

Protein Names

potassium channel subfamily K member 4

K2P4.1 potassium channel

Related Diseases

Diseases

Alias

Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome

FHEIG	Facial Dysmorphism-Hypertrichosis-Epilepsy-Intellectual Disability/Developmental Delay-Gingival Overgrowth Syndrome
Fheig Syndrome	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual And Developmental Delay, And Gingival Overgrowth Syndrome

Gingival Overgrowth

Gingival Enlargement	Gingival Hyperplasia
Gingival Bulge	Gingival Enlargement Nos
Gingival Hypertrophy	Gum Hypertrophy
Hyperplasia Gum	Gingival Thickening
Hyperplasia Of Gingiva	Hypertrophy Of Gingiva
Hypertrophy Of Mucous Membrane Of Gums

Birk-Barel Syndrome

Birk-Barel Mental Retardation Dysmorphism Syndrome	BIBARS
Mental Retardation With Hypotonia And Facial Dysmorphism	Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome
Kcnk9 Imprinting Syndrome

Hypertrichosis

Overgrowth Syndrome

Overgrowth

Congenital Malformation Syndromes Involving Early Overgrowth

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia	Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome	Craniofaciocardioskeletal Syndrome
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome	Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum	HTOCD
Osteochondrodysplasia, Hypertrichotic

Episodic Pain Syndrome, Familial, 1

FEPS1	Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement
Familial Episodic Pain Syndrome 1

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Paroxysmal Extreme Pain Disorder

PEPD	Familial Rectal Pain
Pexpd	Submandibular, Ocular, And Rectal Pain With Flushing
Pain, Submandibular, Ocular, And Rectal, With Flushing	Rectal Pain, Familial
Submandibular, Ocular And Rectal Pain With Flushing	Familial Rectal Syndrome
Frp	Pain Disorder, Paroxysmal, Extreme

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1500	2,2,2-Trichloroethanol	Agonist	99.53%	Unkown
HY-RS07160	KCNK4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCNK4	MGD	MGI:1298234
Rattus norvegicus	KCNK4	RGD	RGD:621449
Bos taurus	KCNK4	VGNC	VGNC:30474
Felis catus	KCNK4	VGNC	VGNC:67921
Canis familiaris	KCNK4	VGNC	VGNC:42276

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