DOCK2

Also known as IMD40, dedicator of cytokinesis 2

protein-coding gene in the species Homo sapiens

Gene data

DOCK2

Name: dedicator of cytokinesis 2
Type: protein-coding
Position: 169,637,224–170,083,382 (+)
Aliases: IMD40
Ensembl: ENSG00000134516
RefSeq RNA: NM_004946.3, NR_156756.1, XM_005265830.5, XM_011534448.3, XM_011534449.3
RefSeq protein: NP_004937.1, XP_005265887.1, XP_011532750.1, XP_011532751.1, XP_011532752.1

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].