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
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
KCNJ10
|