DOCK2 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | DOCK2 |
| Official Name | dedicator of cytokinesis 2 [Source:HGNC Symbol;Acc:HGNC:2988] |
| Ensembl ID | ENSG00000134516 |
| Bio databases IDs | |
| Aliases | dedicator of cytokinesis 2 |
| Synonyms | AABR07029272.1, CED-5, dedicator of cyto-kinesis 2, Hch, IMD40, LOC102557505, MBC, MYOBLAST CITY |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DOCK2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DHR-2, Lobe B
- C2 domain in Dock180 and Zizimin proteins
- DHR-2, Lobe A
- T-cell receptor binding
- GTPase activator
- DOCK N-terminus
- protein binding
- Src Homology 3 domain superfamily
- GEF domain
- Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
- guanyl-nucleotide exchange factor
- C2 domain
- DHR-2, Lobe C
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- habitual abortion
- ulcerative colitis
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- diabetic nephropathy
- immunodeficiency 40
- weight gain
- esophageal adenocarcinoma
- esophageal carcinoma formation
role in cell
- chemotaxis
- formation
- migration
- quantity
- expression in
- production in
- adhesion
- activation in
- proliferation
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- secretory granule lumen
- Extracellular Space
- cortical rim
- cellular membrane
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOCK2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- small GTPase mediated signal transduction
- myoblast fusion
- alpha-beta T cell proliferation
- positive thymic T cell selection
- immunological synapse formation
- myeloid dendritic cell activation involved in immune response
- chemotaxis
- macropinocytosis
- membrane raft polarization
- regulation of small GTPase mediated signal transduction
- establishment of T cell polarity
- positive regulation of phagocytosis
- actin cytoskeleton organization
- cell migration
- negative thymic T cell selection
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- extracellular vesicular exosome
- specific granule lumen
- cytoplasm
- membrane
- cytosol
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- T cell receptor binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity
- small GTPase binding