Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
cerebral cavernous malformations
|
| gptkbp:encodes |
malcavernin protein
|
| gptkbp:Entrez_Gene_ID |
83605
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:function |
cell signaling
vascular development |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:21098
|
| https://www.w3.org/2000/01/rdf-schema#label |
CCM2 gene
|
| gptkbp:interactsWith |
KRIT1 protein
PDCD10 protein |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:mutationAssociatedWith |
vascular malformations
|
| gptkbp:OMIM |
607929
|
| gptkbp:orthologInMouse |
Ccm2
|
| gptkbp:orthologInZebrafish |
ccm2
|
| gptkbp:otherName |
gptkb:OSM
KRIT1-interacting protein MGC4607 |
| gptkbp:UniProtID |
Q9BSQ5
|
| gptkbp:bfsParent |
gptkb:Cerebral_Cavernous_Malformation_Protein
|
| gptkbp:bfsLayer |
7
|