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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 343450 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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)

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  • 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

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-162549 CPK20 Inhibitor 99.67% Unkown
HY-RS07182 KCNT2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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