KCNK18 - potassium two pore domain channel subfamily K member 18 Gene

Also Known as TRIK; MGR13; TRESK; TRESK2; K2p18.1; TRESK-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 338567

About KCNK18

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:117,197,489-117,210,299 (from NCBI)

This gene has 1 transcript (splice variant), 163 orthologues, 14 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of Potassium Channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying Potassium Channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]

KCNK18 Products (1)

mRNA Protein Name
NM_181840.1 NP_862823.1 potassium channel subfamily K member 18
Molecular Function GO Annotation Evidence Références Source
enables outward rectifier potassium channel activity IDA
IDA: Inferred from direct assay
12754259 GOA
Biological Process GO Annotation Evidence Références Source
involved in cellular response to pH IDA
IDA: Inferred from direct assay
12754259 GOA
involved in potassium ion export across plasma membrane IDA
IDA: Inferred from direct assay
12754259 GOA
involved in potassium ion transport IDA
IDA: Inferred from direct assay
20006580 GOA
Cellular Component GO Annotation Evidence Références Source
located in plasma membrane IDA
IDA: Inferred from direct assay
20006580 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

KCNK18 Protein Structure

Ion_trans_2

Ion_trans_2: Ion channel (99 - 155)

Ion_trans_2

Ion_trans_2: Ion channel (289 - 363)

  • 0
  • 100
  • 200
  • 300
  • 384 a.a.
Protein Preferred Names Protein Names

potassium channel subfamily K member 18

  • TWIK-related individual K+ channel

Related Diseases

Diseases Alias
Migraine With Or Without Aura 13
  • Migraine, With Or Without Aura, Susceptibility To, 13

  • MGR13

  • Migraine With Or Without Aura, Susceptibility To, 13

  • Migraine, With Or Without Aura 13

Migraine With Aura
  • Classic Migraine

  • Migraine With Typical Aura

  • Migraine Accompagnée

  • Complicated Migraine

  • Classical Migraine

  • Acute Migraine With Aura

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

Migraine Without Aura
  • Common Migraine

  • Migraine With Or Without Aura, Susceptibility To

  • Migraine Without Aura, Susceptibility To

  • Acute Migraine Without Aura

Advanced Sleep Phase Syndrome, Familial, 2
  • Advanced Sleep Phase Syndrome 2

  • FASPS2

  • Advanced Sleep-Phase Syndrome, Familial, 2

  • Familial Advanced Sleep Phase Syndrome 2

  • Sleep Phase Syndrome, Advanced, Familial, Type 2

Migraine, Familial Hemiplegic, 3
  • FHM3

  • Familial Hemiplegic Migraine 3

  • Mhp3

  • Migraine, Hemiplegic, Familial, Type 3

Brain Small Vessel Disease 1
  • Col4a1-Related Brain Small Vessel Disease With Hemorrhage

  • Col4a1-Related Familial Vascular Leukoencephalopathy

  • Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

  • Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy

  • Brain Small Vessel Disease With Axenfeld-Riegar Anomaly

  • Brain Small Vessel Disease With Hemorrhage

  • Brain Small Vessel Disease With Or Without Ocular Anomalies

  • Bsvd1

  • Infantile Hemiparesis

  • Leukoencephalopathy With Axenfeld-Riegar Anomaly

Migraine, Familial Hemiplegic, 2
  • FHM2

  • Mhp2

  • Migraine, Familial Basilar

  • Familial Hemiplegic Migraine 2

  • Familial Hemiplegic Migraine-2

  • Familiar Basilar Migraine

  • Migraine, Hemiplegic, Familial, Type 2

Migraine, Familial Hemiplegic, 1
  • FHM1

  • Mhp1

  • Fhm

  • Familial Hemiplegic Migraine 1

  • Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

  • Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

  • Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

  • Migraine, Hemiplegic, Familial, Type 1

  • Hemiplegic Migraine, Familial Type 1

Familial Hemiplegic Migraine
  • Hemiplegic Migraine, Familial

  • Hemiplegic-Ophthalmoplegic Migraine

  • Fhm

  • Hemiplegic Migraine Familial

Spinocerebellar Ataxia 6
  • Spinocerebellar Ataxia Type 6

  • SCA6

  • Type 6 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-6

  • Ataxia, Spinocerebellar, Type 6

Retinal Arteries, Tortuosity Of
  • Retinal Arterial Tortuosity

  • Retinal Hemorrhage With Vascular Tortuosity

  • RATOR

  • Tortuosity Of Retinal Arteries

  • Retinal Arteriolar Tortuosity

  • Familial Isolated Retinal Arterial Tortuosity

  • Tortuosity, Arteries, Retinal

Brain Small Vessel Disease
Episodic Ataxia, Type 2
  • Episodic Ataxia Type 2

  • EA2

  • Apca

  • Capa

  • Cerebellopathy, Hereditary Paroxysmal

  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

  • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

  • Episodic Ataxia With Nystagmus

  • Ataxia, Episodic, With Nystagmus

  • Episodic Ataxia, Nystagmus-Associated

  • Ataxia, Familial Paroxysmal

  • Acetazolamide-Responsive Episodic Ataxia Syndrome

  • Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

  • Ataxia, Familial, Paroxysmal

  • Nystagmus-Associated Episodic Ataxia

  • Familial Paroxysmal Ataxia

  • Episodic Ataxia 2

  • Ea-2

  • Episodic Ataxia Nystagmus-Associated

  • Hereditary Paroxysmal Cerebellopathy

  • Ataxia, Episodic, Type 2

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

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Paine Syndrome
  • Pain Disorder

  • Pain

  • Microcephaly With Spastic Diplegia

  • Pain Syndrome

Erythromelalgia
  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia

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
Bos taurus KCNK18 VGNC VGNC:30471
Rattus norvegicus KCNK18 RGD RGD:1303091
Canis familiaris KCNK18 VGNC VGNC:42273
Macaca mulatta KCNK18 VGNC VGNC:106065
Mus musculus KCNK18 MGD MGI:2685627
Others KCNK18 NCBI