|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
Kv7.4
|
|
gptkbp:associatedWith
|
nonsyndromic sensorineural deafness
|
|
gptkbp:discoveredBy
|
Kubisch et al.
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
Potassium voltage-gated channel subfamily KQT member 4
|
|
gptkbp:Entrez_Gene_ID
|
9132
|
|
gptkbp:expressedIn
|
gptkb:cochlea
outer hair cells
|
|
gptkbp:function
|
potassium ion transport
regulation of membrane potential
|
|
gptkbp:gene
|
gptkb:KCNQ4
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasIonChannelActivity
|
yes
|
|
gptkbp:HGNC_ID
|
6290
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNQ4
|
|
gptkbp:involvedIn
|
auditory function
potassium ion homeostasis
|
|
gptkbp:length
|
695 amino acids
|
|
gptkbp:locatedIn
|
gptkb:nucleus
gptkb:plasma_membrane
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p34
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
DFNA2 (autosomal dominant hearing loss)
|
|
gptkbp:OMIM
|
603537
|
|
gptkbp:orthologInMouse
|
Kcnq4
|
|
gptkbp:proteinFamily
|
gptkb:KCNQ_family
|
|
gptkbp:relatedTo
|
gptkb:KCNQ2
gptkb:KCNQ3
gptkb:KCNQ5
gptkb:KCNQ1
|
|
gptkbp:significance
|
deafness
hearing loss
|
|
gptkbp:transmembraneDomains
|
yes
|
|
gptkbp:UniProtID
|
O43526
|
|
gptkbp:bfsParent
|
gptkb:KCNQ_family
|
|
gptkbp:bfsLayer
|
7
|