Statements (30)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
Kir4.1
|
gptkbp:associatedWith |
epilepsy
ataxia sensorineural deafness EAST syndrome tubulopathy |
gptkbp:encodes |
Potassium inwardly-rectifying channel, subfamily J, member 10
|
gptkbp:Entrez_Gene_ID |
3766
ENSG00000177807 |
gptkbp:expressedIn |
gptkb:kidney
brain retina inner ear |
gptkbp:function |
potassium ion transport
maintenance of resting membrane potential |
gptkbp:HGNC_ID |
gptkb:HGNC:6251
|
https://www.w3.org/2000/01/rdf-schema#label |
KCNJ10
|
gptkbp:locatedOnChromosome |
1q23.2
|
gptkbp:mutationAssociatedWith |
neurological disorders
renal disorders |
gptkbp:OMIM |
602208
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:proteinFamily |
inward rectifier potassium channels
|
gptkbp:UniProtID |
P78508
|
gptkbp:bfsParent |
gptkb:human_chromosome_1
gptkb:human_KCNJ_family_proteins gptkb:KCNJ gptkb:KCNJ_genes |
gptkbp:bfsLayer |
8
|