1. Gene
  2. KCNT2 - potassium sodium-activated channel subfamily T member 2 Gene

KCNT2 - potassium sodium-activated channel subfamily T member 2 Gene

中文名称:钾钠激活通道亚家族 T 成员 2

种属: Homo sapiens

同用名: DEE57; SLICK; EIEE57; KCa4.2; SLO2.1

基因 ID: 343450 | 基因类型: protein coding

关于 KCNT2

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,225,779-196,608,440 (from NCBI)

This gene has 9 transcripts (splice variants), 159 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in ovary (RPKM 1.6), lung (RPKM 0.9) and 22 other tissues.

功能概要

启用氯化物激活的钾通道活动。参与跨质膜的钾离子输出。位于质膜。涉及发育和癫痫性脑病 57。[由基因组资源联盟提供,2022 年 4 月]

Enables chloride-activated Potassium Channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57. [provided by Alliance of Genome Resources, Apr 2022]

KCNT2 基因产物(3)

mRNA Protein Name
NM_001287819.3 NP_001274748.1 potassium channel subfamily T member 2 isoform 2
NM_001287820.3 NP_001274749.1 potassium channel subfamily T member 2 isoform 3
NM_198503.5 NP_940905.2 potassium channel subfamily T member 2 isoform 1
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 chloride-activated potassium channel activity IDA
IDA: 通过直接分析推断
14684870 GOA
enables chloride-activated potassium channel activity IMP
IMP: 通过突变表型推断
29069600 GOA
enables intracellular sodium-activated potassium channel activity IDA
IDA: 通过直接分析推断
14684870 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
14684870 GOA
involved in potassium ion export across plasma membrane IMP
IMP: 通过突变表型推断
29069600 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
29069600 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

KCNT2 蛋白结构

Ion_trans_2

Ion_trans_2: Ion channel (208 - 276)

BK_channel_a

BK_channel_a: Calcium-activated BK potassium channel alpha subunit (423 - 527)

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  • 1135 a.a.
蛋白主名 其他名称

potassium channel subfamily T member 2

potassium channel, subfamily T, member 2

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 57

DEE57

Epileptic Encephalopathy, Early Infantile, 57

Eiee57

Developmental And Epileptic Encephalopathy, 57

Early Infantile Epileptic Encephalopathy 57

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

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 KCNT2 VGNC VGNC:30495
Felis catus KCNT2 VGNC VGNC:63048
Macaca mulatta KCNT2 VGNC VGNC:73857
Rattus norvegicus KCNT2 RGD RGD:735074
Mus musculus KCNT2 MGD MGI:3036273
Canis familiaris KCNT2 VGNC VGNC:110516