Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Beta-ENaC
ENaC beta subunit Sodium channel, non-voltage-gated 1, beta subunit |
| gptkbp:associatedWith |
gptkb:Liddle_syndrome
pseudohypoaldosteronism type 1 |
| gptkbp:component |
epithelial sodium channel (ENaC)
|
| gptkbp:discoveredBy |
1994
|
| gptkbp:encodes |
Sodium channel epithelial 1 beta subunit
|
| gptkbp:Entrez_Gene_ID |
6338
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:kidney colon salivary gland |
| gptkbp:function |
regulation of sodium reabsorption in kidney
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
10599
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCNN1B gene
|
| gptkbp:locatedOnChromosome |
gptkb:16p12.2
gptkb:chromosome_16 |
| gptkbp:mutationAssociatedWith |
can cause hypertension
can cause salt-wasting disorders |
| gptkbp:OMIM |
600760
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Scnn1b
|
| gptkbp:proteinFamily |
ENaC/degenerin family
|
| gptkbp:UniProtID |
P51168
|
| gptkbp:bfsParent |
gptkb:ENaC
|
| gptkbp:bfsLayer |
7
|