External Ids for DOCK7 Gene
Previous GeneCards Identifiers for DOCK7 Gene
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
GeneCards Summary for DOCK7 Gene
DOCK7 (Dedicator Of Cytokinesis 7) is a Protein Coding gene. Diseases associated with DOCK7 include epileptic encephalopathy, early infantile, 23 and early onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include binding and Rac GTPase binding. An important paralog of this gene is DOCK6.
UniProtKB/Swiss-Prot for DOCK7 Gene
Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 Ser-15 phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).