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

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

中文名称:钾二孔域通道亚科 K 成员 18

种属: Homo sapiens

同用名: TRIK; MGR13; TRESK; TRESK2; K2p18.1; TRESK-2

基因 ID: 338567 | 基因类型: protein coding

关于 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.

功能概要

钾通道在许多细胞过程中发挥作用,包括维持动作电位、肌肉收缩、激素分泌、渗透压调节和离子流。该基因编码含有两个成孔 P 结构域的钾通道蛋白超家族成员,编码的蛋白质起外向整流钾通道的作用。已发现该基因的突变与先兆偏头痛有关。[RefSeq 提供,2011 年 1 月]

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 基因产物(1)

mRNA Protein Name
NM_181840.1 NP_862823.1 potassium channel subfamily K member 18
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables outward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
12754259 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to pH IDA
IDA: 通过直接分析推断
12754259 GOA
involved in potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
12754259 GOA
involved in potassium ion transport IDA
IDA: 通过直接分析推断
20006580 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
20006580 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNK18 蛋白结构

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.
蛋白主名 其他名称

potassium channel subfamily K member 18

TWIK-related individual K+ channel

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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