DOCK8 Gene Summary [Human]
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DOCK8 |
| Official Name | dedicator of cytokinesis 8 [Source:HGNC Symbol;Acc:HGNC:19191] |
| Ensembl ID | ENSG00000107099 |
| Bio databases IDs | |
| Aliases | dedicator of cytokinesis 8 |
| Synonyms | 1200017A24RIK, 5830472H07RIK, A130095G14RIK, dedicator of cytokinesis 8, HEL-205, HIES2, MRD2, ZIR8 |
| 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 DOCK8 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
- Dedicator of cytokinesis C/D, N terminal
- Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
- DHR-2, Lobe A
- guanyl-nucleotide exchange factor
- DOCK homology region 2
- protein binding
- 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
- experimental autoimmune encephalomyelitis
- hereditary disorder
- autosomal recessive hyper-IgE recurrent infection syndrome
- DOCK8 deficiency
- male pattern hair loss
- severe COVID-19
- coronary artery disease
- autosomal recessive hyper-IgE recurrent infection syndrome 2
- non-small cell lung carcinoma
- non-small cell lung cancer
role in cell
- activity
- proliferation
- apoptosis
- quantity
- formation
- migration
- cytotoxicity
- survival
- production in
- acidification
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
- Plasma Membrane
- lysosome
- cytosol
- cell membrane leading edge
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOCK8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of T cell migration
- small GTPase mediated signal transduction
- negative regulation of T cell apoptotic process
- regulation of small GTPase mediated signal transduction
- immunological synapse formation
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- cell leading edge
- cytoplasm
- membrane
- cytosol
- leading edge membrane
- plasma membrane
- lamellipodium membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity