DOCK2

dedicator of cytokinesis 2

Summary

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]

Known Variants905 total

rsidPosition (GRCh37)AllelesClassClinVar
rs25323124565:169,064,336C/A—likely benign
rs25323126395:169,064,352G/A—uncertain significance
rs13820582945:169,064,361C/A—likely benign
rs2000335475:169,064,362G/A—uncertain significance
rs10560913915:169,064,381C/A—likely benign
rs17568796435:169,064,393C/A—likely benign
rs1690825:169,074,056C/Tregulatory region variant—
rs7718345535:169,081,393T/C—likely benign
rs7785420705:169,081,398G/A—conflicting classifications of pathogenicity
rs14484176225:169,081,403A/G—likely benign
rs25323790425:169,081,420C/G—uncertain significance
rs7607097965:169,081,429C/T—likely benign
rs3769503055:169,081,430G/A—uncertain significance
rs7765861135:169,081,433G/C—uncertain significance
rs21131790695:169,081,436C/G—uncertain significance
rs7631420815:169,081,438C/G—likely benign
rs1418949395:169,081,453G/C—conflicting classifications of pathogenicity
rs3704945835:169,081,456C/T—likely benign
rs3747896545:169,081,462T/C—likely benign
rs17579826855:169,081,466G/T—uncertain significance
rs9753493365:169,081,468G/A—likely benign
rs7564491935:169,081,470G/A—uncertain significance
rs7645209825:169,081,482C/T—uncertain significance
rs5316929925:169,081,483G/C—likely benign
rs7579570205:169,081,496T/A—likely benign
rs7684425775:169,081,507C/T—likely benign
rs7764392165:169,081,508G/A—likely benign
rs1501829065:169,096,298A/G—uncertain significance
rs7459456115:169,096,302G/T—uncertain significance
rs2008524405:169,096,312A/C—uncertain significance
rs25324351695:169,096,331A/G—uncertain significance
rs3775505585:169,096,342C/T—likely benign
rs23065645:169,097,474G/C—benign
rs25324426095:169,097,535G/A—likely benign
rs7621808605:169,097,539C/A—uncertain significance
rs8930443915:169,097,574T/C—uncertain significance
rs7635068035:169,097,587A/T—likely benign
rs13755348665:169,097,592A/T—uncertain significance
rs7658593685:169,097,593G/A—likely benign
rs3681562375:169,097,598G/A—likely benign
rs21132878865:169,097,600A/G—uncertain significance
rs25324430255:169,097,601G/A—uncertain significance
rs7672886725:169,097,614C/T—likely benign
rs7523275775:169,097,617C/T—likely benign
rs7560388455:169,097,619C/T—likely benign
rs3706709185:169,097,620C/T—likely benign
rs21132910025:169,098,089G/A—uncertain significance
rs9805024925:169,098,093A/G—uncertain significance
rs2019791175:169,098,095A/G—uncertain significance
rs17590286985:169,098,096T/G—uncertain significance
rs1852825725:169,098,097C/A—likely benign
rs2014939265:169,098,121A/G—benign
rs5637265745:169,098,130G/A—likely benign
rs14172566065:169,098,133A/G—likely benign
rs1387142635:169,098,135C/T—uncertain significance
rs1446322635:169,098,136G/T—likely benign
rs5525695105:169,098,139A/G—likely benign
rs3709493545:169,098,143T/C—uncertain significance
rs9191128225:169,098,158A/C—uncertain significance
rs21132916655:169,098,160C/A—likely benign
rs25324466155:169,098,161T/C—uncertain significance
rs15615854245:169,098,179G/A—likely pathogenic
rs3682609075:169,098,197C/T—likely benign
rs126567615:169,098,265C/T—benign
rs7760900995:169,101,282G/T—likely benign
rs12064846345:169,101,283T/C—likely benign
rs10498953945:169,101,292G/T—likely benign
rs7767415935:169,101,314A/G—uncertain significance
rs7504212675:169,101,317G/A—uncertain significance
rs1129226895:169,101,330G/A—likely benign
rs7528093465:169,101,339G/A—uncertain significance
rs10265774545:169,101,342G/A—uncertain significance
rs353931345:169,101,345C/T—benign
rs7494638275:169,101,346G/A—uncertain significance
rs12750299255:169,101,369G/A—likely benign
rs1402064565:169,101,378A/G—likely benign
rs3737413465:169,101,384C/T—likely benign
rs17592126565:169,101,395A/T—uncertain significance
rs7679852255:169,101,402G/A—likely benign
rs5496709235:169,101,426G/A—likely benign
rs7613617145:169,101,433A/G—uncertain significance
rs3675736865:169,101,441T/C—likely benign
rs7627011195:169,101,447C/T—likely benign
rs3713120595:169,101,449A/G—uncertain significance
rs7514284605:169,101,454C/A—uncertain significance
rs10353792475:169,101,456T/C—likely benign
rs25324605735:169,101,467T/G—likely benign
rs7608720585:169,101,468G/A—likely benign
rs13497266295:169,101,469C/T—likely benign
rs25324889545:169,108,732A/G—likely benign
rs21133552725:169,108,746A/G—pathogenic
rs2020753945:169,108,784C/T—likely benign
rs17596831345:169,108,785G/A—uncertain significance
rs7593674495:169,108,794T/C—likely benign
rs1465300315:169,108,796G/A—likely benign
rs7538938485:169,108,804A/G—uncertain significance
rs17596852015:169,108,810C/T—uncertain significance
rs5396230575:169,108,832T/C—likely benign
rs12340786395:169,108,843A/G—uncertain significance
rs1472996385:169,108,857A/G—uncertain significance

Showing 100 of 905 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.