RAPGEF2 Gene Summary [Human]
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | RAPGEF2 |
| Official Name | Rap guanine nucleotide exchange factor 2 [Source:HGNC Symbol;Acc:HGNC:16854] |
| Ensembl ID | ENSG00000109756 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 2, Rap GEP |
| Synonyms | 5830453M24Rik, CNRasGEF, LOC100504025, LOC102553473, mKIAA0313, NRAPGEP, Pdz-gef, PDZ-GEF1, RA-GEF, RA-GEF-1, Rap-GEP, Rap guanine nucleotide exchange factor 2, Rap guanine nucleotide exchange factor (GEF) 2 |
| 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 RAPGEF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein kinase binding
- G-protein-coupled receptor binding
- canonical PDZ domain
- WW domain binding
- GTPase activator
- Cdc25 domain
- protein binding
- RasGEF
- PDZ domain
- proline tyrosine motif
- Cyclic nucleotide-monophosphate binding domain
- PDZ-domain binding
- Cyclic nucleotide-binding domain
- binding protein
- 3',5'-cAMP binding
- guanyl-nucleotide exchange factor
- Ubl1_cv_Nsp3_N-like
- Ras/Rap binding domain
- REM
- CAP_ED
Pathways
Biological processes and signaling networks where the RAPGEF2 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
- tumorigenesis
- spina bifida
- coronary artery disease
- Alzheimer disease
- familial adult myoclonic epilepsy type 7
- glioblastoma
- glioblastoma cancer
- anencephaly
role in cell
- apoptosis
- proliferation
- permeability
- migration
- assembly
- lack
- number
- response by
- migration by
- development
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
- perijunctional region
- perinuclear region
- postsynaptic region
- cellular membrane
- cell cortex
- Plasma Membrane
- intercellular junctions
- cytosol
- apical membrane
- neurites
- synapse
- late endosomes
- endocytotic vesicle
- tight junctions
- postsynaptic spines
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cAMP-dependent protein kinase activity
- positive regulation of protein binding
- negative regulation of cell proliferation
- positive regulation of GTPase activity
- MAPK cascade
- negative regulation of melanin biosynthetic process
- negative regulation of dendrite morphogenesis
- neuron migration
- blood vessel development
- regulation of synaptic plasticity
- positive regulation of neuron projection development
- Rap protein signal transduction
- intracellular signal transduction
- positive regulation of neuron migration
- positive regulation of dendritic cell apoptotic process
- G-protein coupled receptor signaling pathway
- neuron projection development
- small GTPase mediated signal transduction
- Ras protein signal transduction
- establishment of endothelial barrier
- forebrain neuron development
- ventricular system development
- brain-derived neurotrophic factor receptor signaling pathway
- neuropeptide signaling pathway
- cellular response to cGMP
- positive regulation of protein kinase activity
- adenylate cyclase-activating adrenergic receptor signaling pathway
- cellular response to cAMP
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of vasculogenesis
- microvillus assembly
- protein localization in plasma membrane
- cAMP-mediated signaling
Cellular Component
Where in the cell the gene product is active
- late endosome
- neuronal cell body
- synapse
- neuron projection
- plasma membrane
- endocytic vesicle
- tight junction
- cell-cell junction
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- guanyl-nucleotide exchange factor activity
- GTPase activator activity
- PDZ domain binding
- diacylglycerol binding
- phosphatidic acid binding
- cAMP binding
- cGMP binding
- beta-1 adrenergic receptor binding
- WW domain binding