Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
DOCK8
dedicator of cytokinesis 8 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
hyper-IgE syndrome
DOCK8 immunodeficiency syndrome |
| gptkbp:discoveredIn |
2009
|
| gptkbp:encodes |
DOCK8 protein
|
| gptkbp:Entrez_Gene_ID |
81704
|
| gptkbp:expressedIn |
immune cells
|
| gptkbp:fullName |
dedicator of cytokinesis 8
|
| gptkbp:function |
immune cell migration
regulation of the actin cytoskeleton lymphocyte survival |
| gptkbp:HGNC_ID |
19102
|
| https://www.w3.org/2000/01/rdf-schema#label |
DOCK8 gene
|
| gptkbp:length |
2098 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9p24.3 |
| gptkbp:mutationAssociatedWith |
immunodeficiency
increased susceptibility to viral infections increased susceptibility to allergies |
| gptkbp:OMIM |
611432
|
| gptkbp:orthologInMouse |
Dock8
|
| gptkbp:pathway |
Rho GTPase signaling
immune system pathways |
| gptkbp:proteinFamily |
DOCK homology region 1 (DHR-1)
DOCK homology region 2 (DHR-2) |
| gptkbp:UniProtID |
Q96JQ5
|
| gptkbp:bfsParent |
gptkb:hyper_IgE_syndrome
gptkb:immunodeficiency_25 |
| gptkbp:bfsLayer |
8
|