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

Also Known as DEE57; SLICK; EIEE57; KCa4.2; SLO2.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 343450

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables chloride-activated potassium channel activity IDA
IDA: Inferred from direct assay
14684870 GOA
enables chloride-activated potassium channel activity IMP
IMP: Inferred from mutant phenotype
29069600 GOA
enables intracellular sodium-activated potassium channel activity IDA
IDA: Inferred from direct assay
14684870 GOA
Biological Process GO Annotation Evidence References Source
involved in potassium ion export across plasma membrane IDA
IDA: Inferred from direct assay
14684870 GOA
involved in potassium ion export across plasma membrane IMP
IMP: Inferred from mutant phenotype
29069600 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
29069600 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

KCNT2 Protein Structure

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)

  • 0
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  • 800
  • 1000
  • 1135 a.a.
Protein Preferred Names Protein Names

potassium channel subfamily T member 2

  • potassium channel, subfamily T, member 2

Related Diseases

Diseases Alias
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

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 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
Others KCNT2 NCBI