Entity Details

Primary name KCNQ5
Entity type gene
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Details

PrimaryID56479
RefseqGeneNG_047170
SymbolKCNQ5
Namepotassium voltage-gated channel subfamily Q member 5
Chromosome6
Location6q13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNQ5_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0030118 clathrin coat
GO:0034765 regulation of ion transmembrane transport
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
617601 OMIMMental retardation, autosomal dominant 46 (MRD46)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD46 patients manifest developmental delay and mild to moderate intellectual disability. The disease is caused by variants affecting the gene represented in this entry.