DOCK6 Gene Summary [Human]
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
Details
| Type | Processed Transcript |
| Official Symbol | DOCK6 |
| Official Name | dedicator of cytokinesis 6 [Source:HGNC Symbol;Acc:HGNC:19189] |
| Ensembl ID | ENSG00000130158 |
| Bio databases IDs | |
| Aliases | dedicator of cytokinesis 6 |
| Synonyms | 2410095B20RIK, 3110056M06RIK, 4931431C02RIK, AOS2, C330023D02RIK, dedicator of cytokinesis 6, mKIAA1395, ZIR1 |
| 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 DOCK6 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
- 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
- Adams-Oliver syndrome type 2
- Adams-Oliver syndrome
- preeclampsia
- Adams-Oliver syndrome type 1
- hereditary disorder
- Paget disease of bone
- metabolic syndrome X
- familial hypercholanemia type 1
- vascular dementia
- aortic stenosis
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOCK6 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
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity