RAPGEF4 Gene Summary [Human]
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and regulation of postsynapse organization. Predicted to act upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; regulation of exocytosis; and secretion by cell. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density. Implicated in autistic disorder. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | RAPGEF4 |
| Official Name | Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626] |
| Ensembl ID | ENSG00000091428 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 4, cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 |
| Synonyms | 1300003D15Rik, 5730402K07Rik, 6330581N18Rik, CAMP-GEFII, CAMPS, CGEF2, EPAC, EPAC 2, mKIAA4040, Nbla00496, Rap guanine nucleotide exchange factor 4, Rap guanine nucleotide exchange factor (GEF) 4 |
| 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 RAPGEF4 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 found in Dishevelled, Egl-10, and Pleckstrin (DEP)
- protein binding activity, bridging
- enzyme binding
- protein binding
- RasGEF
- Cyclic nucleotide-monophosphate binding domain
- DEP
- Cyclic nucleotide-binding domain
- binding protein
- 3',5'-cAMP binding
- guanyl-nucleotide exchange factor
- REM
- CAP_ED
Pathways
Biological processes and signaling networks where the RAPGEF4 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
- COVID-19
- schizophrenia
- ventricular tachycardia
- Moyamoya disease
- autosomal recessive polycystic kidney disease
- glioblastoma
- glioblastoma cancer
role in cell
- migration
- quantity
- activation in
- long-term potentiation
- apoptosis
- expression in
- cell viability
- differentiation
- assembly
- abnormal morphology
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
- membrane fraction
- glutaminergic synapse
- presynaptic regions
- cellular membrane
- filamentous network
- Plasma Membrane
- cytosol
- apical membrane
- basolateral membrane
- dendritic spines
- growth cone
- neurites
- nerve ending
- synaptosomes
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- brush border
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- excitatory synapses
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- insulin secretion
- G-protein coupled receptor signaling pathway
- adaptive immune response
- Ras protein signal transduction
- calcium ion-dependent exocytosis
- regulation of exocytosis
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- positive regulation of insulin secretion
Cellular Component
Where in the cell the gene product is active
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding
- cAMP binding
- protein binding, bridging