Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:PDS
Pendred syndrome protein |
| gptkbp:associatedWith |
DFNB4 nonsyndromic hearing loss
Pendred syndrome |
| gptkbp:discoveredBy |
Everett et al.
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
pendrin
|
| gptkbp:Entrez_Gene_ID |
5172
|
| gptkbp:expressedIn |
gptkb:thyroid
inner ear |
| gptkbp:function |
anion exchanger
|
| gptkbp:HGNC_ID |
HGNC:10855
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC26A4
|
| gptkbp:locatedOnChromosome |
7q22.3
|
| gptkbp:mutationAssociatedWith |
sensorineural hearing loss
goiter |
| gptkbp:OMIM |
605646
|
| gptkbp:orthologInMouse |
Slc26a4
|
| gptkbp:proteinFamily |
SLC26 family
|
| gptkbp:UniProtID |
O43511
|
| gptkbp:bfsParent |
gptkb:solute_carrier_family
|
| gptkbp:bfsLayer |
6
|