Entity Details

Primary name RPGF2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y4G8
EntryNameRPGF2_HUMAN
FullNameRap guanine nucleotide exchange factor 2
TaxID9606
Evidenceevidence at protein level
Length1499
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesRAPGEF2

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0001568 blood vessel development
GO:0001764 neuron migration
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005096 GTPase activator activity
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005770 late endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007218 neuropeptide signaling pathway
GO:0007264 small GTPase mediated signal transduction
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: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: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: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

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm
Late endosome

Domains

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DomainNameCategoryType
IPR000159 Ras-associating (RA) domainDomainDomain
IPR000595 Cyclic nucleotide-binding domainDomainDomain
IPR000651 Ras-like guanine nucleotide exchange factor, N-terminalDomainDomain
IPR001478 PDZ domainDomainDomain
IPR001895 Ras guanine-nucleotide exchange factors catalytic domainDomainDomain
IPR008937 Ras-like guanine nucleotide exchange factorFamilyFamily
IPR014710 RmlC-like jelly roll foldFamilyHomologous superfamily
IPR018490 Cyclic nucleotide-binding-likeFamilyHomologous superfamily
IPR023578 Ras guanine nucleotide exchange factor domain superfamilyFamilyHomologous superfamily
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR030739 Rap guanine nucleotide exchange factor 2FamilyFamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618075 OMIMEpilepsy, familial adult myoclonic, 7 (FAME7)A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.