Aliases for DOCK2 Gene
External Ids for DOCK2 Gene
Previous GeneCards Identifiers for DOCK2 Gene
The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]
GeneCards Summary for DOCK2 Gene
DOCK2 (Dedicator Of Cytokinesis 2) is a Protein Coding gene. Diseases associated with DOCK2 include Immunodeficiency 40 and Dock2 Deficiency. Among its related pathways are Innate Immune System and Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK1.
UniProtKB/Swiss-Prot Summary for DOCK2 Gene
Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2.