KCNT2 - potassium sodium-activated channel subfamily T member 2 Gene
Also Known as DEE57; SLICK; EIEE57; KCa4.2; SLO2.1
Species: Homo sapiens
About KCNT2
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 |
KCNT2 Protein Structure
Ion_trans_2: Ion channel (208 - 276)
BK_channel_a: Calcium-activated BK potassium channel alpha subunit (423 - 527)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1135 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
potassium channel subfamily T member 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 57 |
|
|
| Encephalopathy |
|
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| Developmental And Epileptic Encephalopathy |
|
|
| Spinocerebellar Ataxia 45 |
|
|
| Partial Motor Epilepsy |
|
|
| Epilepsy, Idiopathic Generalized 14 |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| West Syndrome |
|
|
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 |