Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:AK_2
gptkb:ADK2 gptkb:adenylate_kinase_isoenzyme_2 |
| gptkbp:associatedWith |
reticular dysgenesis
|
| gptkbp:encodes |
gptkb:adenylate_kinase_2
|
| gptkbp:Entrez_Gene_ID |
ENSG00000111669
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:function |
catalyzes the interconversion of adenine nucleotides
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:367
|
| https://www.w3.org/2000/01/rdf-schema#label |
AK2 gene
|
| gptkbp:locatedOnChromosome |
1p35.1
|
| gptkbp:mutationAssociatedWith |
immunodeficiency
|
| gptkbp:OMIM |
103020
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Danio_rerio
gptkb:Mus_musculus |
| gptkbp:pathway |
purine metabolism
|
| gptkbp:RefSeq |
NM_013411
|
| gptkbp:UniProtID |
P54819
|
| gptkbp:bfsParent |
gptkb:Reticular_dysgenesis
|
| gptkbp:bfsLayer |
8
|