ARFGEF2 Gene Summary [Human]
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ARFGEF2 |
| Official Name | ADP ribosylation factor guanine nucleotide exchange factor 2 [Source:HGNC Symbol;Acc:HGNC:15853] |
| Ensembl ID | ENSG00000124198 |
| Bio databases IDs | |
| Aliases | ADP ribosylation factor guanine nucleotide exchange factor 2, Brefeldin A-inhibited guanine nucleotide-exchange protein 2 |
| Synonyms | ARF guanine nucleotide exchange factor 2, AW493672, BIG2, dJ1164I10.1, E230011G24RIK, PVNH2 |
| 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 ARFGEF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF1981)
- AKAP binding domain
- protein kinase A binding
- Guanine nucleotide exchange factor in Golgi transport N-terminal
- Sec7
- R2 binding domain
- protein binding
- receptor binding
- BIG2 C-terminal domain
- myosin binding
- Sec7 domain
- guanyl-nucleotide exchange factor
- dimerization and cyclophilin-binding domain of Mon2
Pathways
Biological processes and signaling networks where the ARFGEF2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive periventricular heterotopia with microcephaly
- Alzheimer disease
- major depression
- metastasis
- periventricular nodular heterotopia
- exencephaly
- ectopia
- pervasive developmental disorder
- dyslexia
- hereditary disorder
role in cell
- expression in
- proliferation
- activation in
- phosphorylation in
- survival
- migration
- accumulation in
- organization
- formation
- exocytosis by
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
- microtubule fractions
- glutaminergic synapse
- intracellular membrane-bounded organelle
- presynaptic regions
- cell periphery
- perinuclear region
- postsynaptic region
- cellular membrane
- Plasma Membrane
- centrosome
- Golgi Apparatus
- microtubules
- axonemes
- microtubule organizing centers
- cytosol
- Golgi membrane
- trans Golgi network
- dendritic spines
- synapse
- recycling endosomes
- cytoplasmic vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARFGEF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosome organization
- protein transport
- Golgi to plasma membrane transport
- regulation of ARF protein signal transduction
- positive regulation of tumor necrosis factor production
- exocytosis
- receptor recycling
- intracellular signal transduction
- endomembrane system organization
Cellular Component
Where in the cell the gene product is active
- symmetric synapse
- Golgi apparatus
- Golgi membrane
- axonemal microtubule
- trans-Golgi network
- centrosome
- perinuclear region of cytoplasm
- microtubule organizing center
- intracellular membrane-bounded organelle
- dendritic spine
- membrane
- cytoplasmic vesicle
- asymmetric synapse
- cytosol
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- myosin binding
- protein kinase A regulatory subunit binding
- GABA receptor binding