Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Tamm-Horsfall protein
|
| gptkbp:associatedWith |
familial juvenile hyperuricemic nephropathy
glomerulocystic kidney disease medullary cystic kidney disease type 2 |
| gptkbp:discoveredBy |
gptkb:Igor_Tamm
Frank Horsfall |
| gptkbp:encodes |
uromodulin
|
| gptkbp:Entrez_Gene_ID |
7369
|
| gptkbp:expressedIn |
thick ascending limb of Henle's loop
|
| gptkbp:function |
defense against urinary tract infection
regulation of water and salt balance in the kidney |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
12584
|
| https://www.w3.org/2000/01/rdf-schema#label |
UMOD
|
| gptkbp:length |
640 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
|
| gptkbp:location |
16p12.3
|
| gptkbp:molecularWeight |
~85 kDa
|
| gptkbp:mutationAssociatedWith |
kidney disease
|
| gptkbp:OMIM |
191845
|
| gptkbp:orthologInMouse |
Umod
|
| gptkbp:product |
uromodulin
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P07911
|
| gptkbp:bfsParent |
gptkb:Universal_Music_On_Demand
|
| gptkbp:bfsLayer |
7
|