Entity Details

Primary name KCNB1
Entity type gene
Source Source Link

Details

PrimaryID3745
RefseqGeneNG_041781
SymbolKCNB1
Namepotassium voltage-gated channel subfamily B member 1
Chromosome20
Location20q13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-13
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsKCNB1_HUMAN

GO terms

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GOName
GO:0001508 action potential
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005886 plasma membrane
GO:0006904 vesicle docking involved in exocytosis
GO:0007215 glutamate receptor signaling pathway
GO:0008076 voltage-gated potassium channel complex
GO:0010701 positive regulation of norepinephrine secretion
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0031669 cellular response to nutrient levels
GO:0032590 dendrite membrane
GO:0032809 neuronal cell body membrane
GO:0033605 positive regulation of catecholamine secretion
GO:0034765 regulation of ion transmembrane transport
GO:0042383 sarcolemma
GO:0042593 glucose homeostasis
GO:0043204 perikaryon
GO:0044325 transmembrane transporter binding
GO:0045211 postsynaptic membrane
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0046676 negative regulation of insulin secretion
GO:0046982 protein heterodimerization activity
GO:0050796 regulation of insulin secretion
GO:0051260 protein homooligomerization
GO:0071333 cellular response to glucose stimulus
GO:0071805 potassium ion transmembrane transport
GO:0072659 protein localization to plasma membrane
GO:0090314 positive regulation of protein targeting to membrane
GO:0098900 regulation of action potential
GO:1900454 positive regulation of long-term synaptic depression
GO:2000671 regulation of motor neuron apoptotic process

Diseases

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Disease IDSourceNameDescription
616056 OMIMDevelopmental and epileptic encephalopathy 26 (DEE26)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. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. The disease is caused by variants affecting the gene represented in this entry.