Version: 8.0.0Date: Tue Jan 28 2025
Gene
DOCK2
- Species
- Homo sapiens
- Symbol
- DOCK2
- Name
- dedicator of cytokinesis 2
- Synonyms
- dedicator of cyto-kinesis 2
- dedicator of cytokinesis protein 2
- Biotype
- protein coding gene
- Automated Description
- Enables T cell receptor binding activity and guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including macropinocytosis; myeloid dendritic cell activation involved in immune response; and myoblast fusion. Predicted to act upstream of or within several processes, including T cell activation; immunological synapse formation; and membrane raft polarization. Located in extracellular exosome and membrane. Implicated in immunodeficiency 40.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45653
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr5:169637268...170083382 + (446.11 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction