Entity Details
Primary name |
KCNT2_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q6UVM3 |
EntryName | KCNT2_HUMAN |
FullName | Potassium channel subfamily T member 2 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 1135 |
SequenceStatus | complete |
DateCreated | 2007-12-04 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Cell membrane |
Domains
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Domain | Name | Category | Type |
IPR003929 | Calcium-activated potassium channel BK, alpha subunit | Domain | Domain |
IPR013099 | Potassium channel domain | Domain | Domain |
IPR036291 | NAD(P)-binding domain superfamily | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
617771 | OMIM | Developmental and epileptic encephalopathy 57 (DEE57) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE57 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
Interactor | Partner | Sources | Publications | Link |