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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 50801

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Ion_trans_2: Ion channel (86 - 142)

Ion_trans_2

Ion_trans_2: Ion channel (180 - 258)

  • 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

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