DEF6 Gene Summary [Human]
DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | DEF6 |
| Official Name | DEF6 guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:HGNC:2760] |
| Ensembl ID | ENSG00000023892 |
| Bio databases IDs | |
| Aliases | DEF6 guanine nucleotide exchange factor, SWAP-70-like adaptor protein of T cells |
| Synonyms | 2410003F05Rik, 6430538D02RIK, DEF6 guanine nucleotide exchange factor, differentially expressed in FDCP 6, IBP, IMD87, IRF-Binding, SLAT, Slat2, Slat6, SWAP70L |
| 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 DEF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-Hand
- guanyl-nucleotide exchange factor
- nuclear localization sequence
- PH domain
- protein binding
- Pleckstrin homology-like domain
- heptad repeat domain
- Dbl-like domain
- Dbl homology domain
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
- vasculitis
- diabetic nephropathy
- immunodeficiency 87 and autoimmunity
- experimentally induced rheumatoid arthritis
- hypergammaglobulinemia
- acute disseminated encephalomyelitis
- bone resorption disorder
- neutrophilia
- eosinophilia
role in cell
- expression in
- binding in
- proliferation
- differentiation
- accumulation
- quantity
- formation in
- production in
- migration
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- focal adhesions
- intercellular junctions
- cytosol
- nucleoplasm
- sarcolemma
- cell membrane leading edge
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoskeleton
- cytoplasm
- membrane
- filopodium
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity