Entity Details

Primary name KCND3
Entity type gene
Source Source Link

Details

PrimaryID3752
RefseqGeneNG_032011
SymbolKCND3
Namepotassium voltage-gated channel subfamily D member 3
Chromosome1
Location1p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-13
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsKCND3_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005250 A-type (transient outward) potassium channel activity
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0014069 postsynaptic density
GO:0016021 integral component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042383 sarcolemma
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0044325 transmembrane transporter binding
GO:0045211 postsynaptic membrane
GO:0046872 metal ion binding
GO:0051260 protein homooligomerization
GO:0061337 cardiac conduction
GO:0071805 potassium ion transmembrane transport
GO:0086009 membrane repolarization
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:0097623 potassium ion export across plasma membrane
GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential
GO:0098982 GABA-ergic synapse
GO:0099060 integral component of postsynaptic specialization membrane
GO:0099625 ventricular cardiac muscle cell membrane repolarization

Diseases

Show/Hide Table
Disease IDSourceNameDescription
607346 OMIMSpinocerebellar ataxia 19 (SCA19)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. The disease is caused by variants affecting the gene represented in this entry.
616399 OMIMBrugada syndrome 9 (BRGDA9)A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. The gene represented in this entry may be involved in disease pathogenesis.