Aliases for DOCK8 Gene
External Ids for DOCK8 Gene
Previous GeneCards Identifiers for DOCK8 Gene
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
GeneCards Summary for DOCK8 Gene
DOCK8 (Dedicator Of Cytokinesis 8) is a Protein Coding gene. Diseases associated with DOCK8 include Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Factors involved in megakaryocyte development and platelet production and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK7.
UniProtKB/Swiss-Prot for DOCK8 Gene
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780).