Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
CECR1
|
| gptkbp:associatedWith |
Deficiency of adenosine deaminase 2 (DADA2)
|
| gptkbp:encodes |
Adenosine deaminase 2 protein
|
| gptkbp:Entrez_Gene_ID |
51816
|
| gptkbp:enzymeCommissionNumber |
3.5.4.4
|
| gptkbp:expressedIn |
macrophages
monocytes |
| gptkbp:fullName |
Adenosine Deaminase 2
|
| gptkbp:function |
catalyzes deamination of adenosine to inosine
|
| gptkbp:HGNC_ID |
HGNC:2062
|
| https://www.w3.org/2000/01/rdf-schema#label |
ADA2
|
| gptkbp:locatedOnChromosome |
22q11.1
|
| gptkbp:mutationAssociatedWith |
immunodeficiency
vasculitis stroke in childhood |
| gptkbp:OMIM |
607575
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cecr1
|
| gptkbp:UniProtID |
Q9NZK5
|
| gptkbp:bfsParent |
gptkb:SANT_domain
|
| gptkbp:bfsLayer |
7
|