Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:muscle_phosphoglycerate_mutase
|
| gptkbp:associatedWith |
glycogen storage disease type X
|
| gptkbp:discoveredBy |
Beutler et al.
|
| gptkbp:encodes |
phosphoglycerate mutase 2
|
| gptkbp:Entrez_Gene_ID |
ENSG00000120690
|
| gptkbp:enzymeCommissionNumber |
5.4.2.1
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:foundInPathway |
glycolysis/gluconeogenesis
|
| gptkbp:function |
glycolysis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
8880
|
| https://www.w3.org/2000/01/rdf-schema#label |
PGAM2
|
| gptkbp:locatedOnChromosome |
7p13-p12
|
| gptkbp:mutationAssociatedWith |
PGAM2 deficiency
|
| gptkbp:numberOfExons |
3
|
| gptkbp:OMIM |
172250
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Pgam2
|
| gptkbp:RefSeq |
NM_000290
|
| gptkbp:UniProtID |
P15259
|
| gptkbp:bfsParent |
gptkb:phosphoglycerate_mutase
|
| gptkbp:bfsLayer |
8
|