Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:DRP
gptkb:dystrophin-related_protein |
| gptkbp:associatedWith |
muscular dystrophy
|
| gptkbp:discoveredBy |
Khurana et al.
|
| gptkbp:discoveredIn |
1990
|
| gptkbp:encodes |
utrophin protein
|
| gptkbp:Entrez_Gene_ID |
7402
ENSG00000147813 |
| gptkbp:expressedIn |
gptkb:cancer
gptkb:skeletal_muscle gptkb:kidney brain heart |
| gptkbp:function |
cytoskeletal protein binding
cell membrane stabilization |
| gptkbp:hasParalog |
dystrophin (DMD gene)
|
| gptkbp:HGNC_ID |
HGNC:12671
|
| https://www.w3.org/2000/01/rdf-schema#label |
UTRN gene
|
| gptkbp:length |
72 exons
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
6q24 |
| gptkbp:mutationAssociatedWith |
implicated in muscular dystrophy
|
| gptkbp:OMIM |
128240
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Utrn
|
| gptkbp:UniProtID |
P46939
|
| gptkbp:bfsParent |
gptkb:utrophin
|
| gptkbp:bfsLayer |
7
|