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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q32.1
Chromosome location (bp)
159103013 - 159360174
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP 1,2 or not 3,4,5. Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Provides also inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000165[MAPK cascade] GO:0001568[blood vessel development] GO:0001764[neuron migration] GO:0004222[metalloendopeptidase activity] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005770[late endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005923[bicellular tight junction] GO:0006508[proteolysis] GO:0007165[signal transduction] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007218[neuropeptide signaling pathway] GO:0007264[small GTPase mediated signal transduction] GO:0007265[Ras protein signal transduction] GO:0007399[nervous system development] GO:0008285[negative regulation of cell population proliferation] GO:0010976[positive regulation of neuron projection development] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0019933[cAMP-mediated signaling] GO:0019992[diacylglycerol binding] GO:0021591[ventricular system development] GO:0021884[forebrain neuron development] GO:0030033[microvillus assembly] GO:0030139[endocytic vesicle] GO:0030154[cell differentiation] GO:0030165[PDZ domain binding] GO:0030552[cAMP binding] GO:0031175[neuron projection development] GO:0031547[brain-derived neurotrophic factor receptor signaling pathway] GO:0031697[beta-1 adrenergic receptor binding] GO:0032092[positive regulation of protein binding] GO:0032486[Rap protein signal transduction] GO:0032991[protein-containing complex] GO:0035556[intracellular signal transduction] GO:0038180[nerve growth factor signaling pathway] GO:0042127[regulation of cell population proliferation] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043547[positive regulation of GTPase activity] GO:0043950[positive regulation of cAMP-mediated signaling] GO:0045202[synapse] GO:0045860[positive regulation of protein kinase activity] GO:0048022[negative regulation of melanin biosynthetic process] GO:0048167[regulation of synaptic plasticity] GO:0048471[perinuclear region of cytoplasm] GO:0050699[WW domain binding] GO:0050774[negative regulation of dendrite morphogenesis] GO:0061028[establishment of endothelial barrier] GO:0070161[anchoring junction] GO:0070300[phosphatidic acid binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071320[cellular response to cAMP] GO:0071321[cellular response to cGMP] GO:0071880[adenylate cyclase-activating adrenergic receptor signaling pathway] GO:0072659[protein localization to plasma membrane] GO:0090557[establishment of endothelial intestinal barrier] GO:1901888[regulation of cell junction assembly] GO:1990090[cellular response to nerve growth factor stimulus] GO:2000481[positive regulation of cAMP-dependent protein kinase activity] GO:2000670[positive regulation of dendritic cell apoptotic process] GO:2001214[positive regulation of vasculogenesis] GO:2001224[positive regulation of neuron migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
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GO:0004222[metalloendopeptidase activity] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0006508[proteolysis] GO:0007165[signal transduction] GO:0007264[small GTPase mediated signal transduction] GO:0042127[regulation of cell population proliferation] GO:0043547[positive regulation of GTPase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0007264[small GTPase mediated signal transduction] GO:0042127[regulation of cell population proliferation] GO:0043547[positive regulation of GTPase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0007264[small GTPase mediated signal transduction] GO:0042127[regulation of cell population proliferation] GO:0043547[positive regulation of GTPase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
