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Protein

Rap guanine nucleotide exchange factor 2

Gene

RAPGEF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (PubMed:23800469, PubMed:10801446) or not (PubMed:10608844, PubMed:10548487, PubMed:11359771). 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.11 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi135 – 254cNMPAdd BLAST120

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, GTPase activation, Guanine-nucleotide releasing factor
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5673001 RAF/MAP kinase cascade

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9Y4G8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Rap guanine nucleotide exchange factor 2
Alternative name(s):
Cyclic nucleotide ras GEF
Short name:
CNrasGEF
Neural RAP guanine nucleotide exchange protein
Short name:
nRap GEP
PDZ domain-containing guanine nucleotide exchange factor 1
Short name:
PDZ-GEF1
RA-GEF-1
Ras/Rap1-associating GEF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAPGEF2
Synonyms:KIAA0313, NRAPGEP, PDZGEF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000109756.8

Human Gene Nomenclature Database

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HGNCi
HGNC:16854 RAPGEF2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609530 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y4G8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, familial adult myoclonic, 7 (FAME7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:618075

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi211K → R: Abolishes cAMP-binding. 1 Publication1
Mutagenesisi215R → D: Does not abolish cAMP-binding. 1 Publication1
Mutagenesisi396 – 399PLPF → AAA: Loss of cell membrane targeting. 1 Publication4
Mutagenesisi606 – 626Missing : Abolishes interaction with RAP1A GTP-bound form and translocation from the cytoplasm to the perinuclear region. Does not abolish GEF activity on RAP1A. 1 PublicationAdd BLAST21
Mutagenesisi898R → D: Does not inhibit interaction with NEDD4. Does not interact with HRAS. Reduces ubiquitination. 1 Publication1
Mutagenesisi1406Y → A: Abolishes interaction with NEDD4 and NEDD4-induced ubiquitination and degradation; when associated with A-1428. 1 Publication1
Mutagenesisi1428Y → A: Abolishes interaction with NEDD4 and NEDD4-induced ubiquitination and degradation; when associated with A-1406. 1 Publication1
Mutagenesisi1497 – 1499SAV → AAA: No loss of cell membrane targeting. 1 Publication3

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNET

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DisGeNETi
9693
MIMi618075 phenotype

Open Targets

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OpenTargetsi
ENSG00000109756

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA130413152

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RAPGEF2

Domain mapping of disease mutations (DMDM)

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DMDMi
34395737

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000688651 – 1499Rap guanine nucleotide exchange factor 2Add BLAST1499

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei501PhosphoserineBy similarity1
Modified residuei644Phosphothreonine; by PLK2By similarity1
Modified residuei806Phosphoserine; by PLK2By similarity1
Modified residuei930PhosphoserineBy similarity1
Modified residuei933Phosphoserine; by PLK2By similarity1
Modified residuei1022PhosphoserineCombined sources1
Modified residuei1080PhosphoserineCombined sources1
Modified residuei1089PhosphoserineCombined sources1
Modified residuei1095PhosphoserineCombined sources1
Modified residuei1116PhosphoserineBy similarity1
Modified residuei1120PhosphoserineBy similarity1
Modified residuei1159PhosphoserineCombined sources1
Modified residuei1176Phosphoserine; by PLK2By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by NEDD4, leading to proteasomal degradation.1 Publication
Phosphorylation by PLK2 promotes its activity.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y4G8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y4G8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9Y4G8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y4G8

PeptideAtlas

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PeptideAtlasi
Q9Y4G8

PRoteomics IDEntifications database

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PRIDEi
Q9Y4G8

ProteomicsDB human proteome resource

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ProteomicsDBi
86204

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y4G8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9Y4G8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in primary neuronal and endocrine cells (at protein level). Highest expression levels in brain. Lower expression levels in heart, kidney, lung, placenta and blood leukocytes.4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000109756 Expressed in 234 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_RAPGEF2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y4G8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y4G8 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA057169

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CDH1, CTNNB1 and TJP1 (By similarity). Interacts (via C-terminal domain) with MAGI2 (via PDZ and WW domains); the interaction occurs before or after NGF stimulation. Interacts with KIDINS220 and NTRK1; the interactions occur after NGF stimulation (By similarity). Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a neuronal growth factor (NGF)-dependent manner. Interacts (via C-terminal domain) with NEDD4 (via WW domains); this interaction leads to ubiquitination and degradation via the proteasome pathway in a cAMP-independent manner. Interacts with MAGI1 isoform 3 (via PDZ domain). Interacts with ADRB1 (via C-terminal PDZ motif); the interaction is direct. Interacts (via Ras-associating domain) with RAP1A (via GTP-bound active form). Interacts weakly with HRAS (via GDP- and GTP-bound forms). Interacts (via C-terminal domain) with MAGI2 (via PDZ and WW domains).By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MAGI1Q96QZ7-32EBI-307079,EBI-8769674

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115045, 64 interactors

Protein interaction database and analysis system

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IntActi
Q9Y4G8, 38 interactors

Molecular INTeraction database

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MINTi
Q9Y4G8

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264431

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y4G8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y4G8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini267 – 380N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST114
Domaini385 – 470PDZPROSITE-ProRule annotationCuratedAdd BLAST86
Domaini606 – 692Ras-associatingPROSITE-ProRule annotationAdd BLAST87
Domaini717 – 944Ras-GEFPROSITE-ProRule annotationAdd BLAST228

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1108 – 1166Ser-richAdd BLAST59

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Ras-associating domain is necessary for the Rap guanine nucleotide exchange activity. The N-terminal regionis necessary for cAMP-binding. The PDZ domain is necessary for its targeting to the cell membrane.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RAPGEF2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3542 Eukaryota
ENOG410XS6B LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156418

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000247009

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG056658

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y4G8

KEGG Orthology (KO)

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KOi
K08018

Identification of Orthologs from Complete Genome Data

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OMAi
EVCSEHN

Database of Orthologous Groups

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OrthoDBi
31139at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y4G8

TreeFam database of animal gene trees

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TreeFami
TF313184

Family and domain databases

Conserved Domains Database

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CDDi
cd00038 CAP_ED, 1 hit
cd00155 RasGEF, 1 hit
cd06224 REM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR000159 RA_dom
IPR030739 RapGEF2
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR014710 RmlC-like_jellyroll
IPR029071 Ubiquitin-like_domsf

The PANTHER Classification System

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PANTHERi
PTHR23113 PTHR23113, 1 hit
PTHR23113:SF217 PTHR23113:SF217, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00595 PDZ, 1 hit
PF00788 RA, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00100 cNMP, 1 hit
SM00228 PDZ, 1 hit
SM00314 RA, 1 hit
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48366 SSF48366, 1 hit
SSF50156 SSF50156, 1 hit
SSF51206 SSF51206, 1 hit
SSF54236 SSF54236, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50042 CNMP_BINDING_3, 1 hit
PS50106 PDZ, 1 hit
PS50200 RA, 1 hit
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All

Q9Y4G8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKPLAIPANH GVMGQQEKHS LPADFTKLHL TDSLHPQVTH VSSSHSGCSI
60 70 80 90 100
TSDSGSSSLS DIYQATESEA GDMDLSGLPE TAVDSEDDDD EEDIERASDP
110 120 130 140 150
LMSRDIVRDC LEKDPIDRTD DDIEQLLEFM HQLPAFANMT MSVRRELCAV
160 170 180 190 200
MVFAVVERAG TIVLNDGEEL DSWSVILNGS VEVTYPDGKA EILCMGNSFG
210 220 230 240 250
VSPTMDKEYM KGVMRTKVDD CQFVCIAQQD YCRILNQVEK NMQKVEEEGE
260 270 280 290 300
IVMVKEHREL DRTGTRKGHI VIKGTSERLT MHLVEEHSVV DPTFIEDFLL
310 320 330 340 350
TYRTFLSSPM EVGKKLLEWF NDPSLRDKVT RVVLLWVNNH FNDFEGDPAM
360 370 380 390 400
TRFLEEFENN LEREKMGGHL RLLNIACAAK AKRRLMTLTK PSREAPLPFI
410 420 430 440 450
LLGGSEKGFG IFVDSVDSGS KATEAGLKRG DQILEVNGQN FENIQLSKAM
460 470 480 490 500
EILRNNTHLS ITVKTNLFVF KELLTRLSEE KRNGAPHLPK IGDIKKASRY
510 520 530 540 550
SIPDLAVDVE QVIGLEKVNK KSKANTVGGR NKLKKILDKT RISILPQKPY
560 570 580 590 600
NDIGIGQSQD DSIVGLRQTK HIPTALPVSG TLSSSNPDLL QSHHRILDFS
610 620 630 640 650
ATPDLPDQVL RVFKADQQSR YIMISKDTTA KEVVIQAIRE FAVTATPDQY
660 670 680 690 700
SLCEVSVTPE GVIKQRRLPD QLSKLADRIQ LSGRYYLKNN METETLCSDE
710 720 730 740 750
DAQELLRESQ ISLLQLSTVE VATQLSMRNF ELFRNIEPTE YIDDLFKLRS
760 770 780 790 800
KTSCANLKRF EEVINQETFW VASEILRETN QLKRMKIIKH FIKIALHCRE
810 820 830 840 850
CKNFNSMFAI ISGLNLAPVA RLRTTWEKLP NKYEKLFQDL QDLFDPSRNM
860 870 880 890 900
AKYRNVLNSQ NLQPPIIPLF PVIKKDLTFL HEGNDSKVDG LVNFEKLRMI
910 920 930 940 950
AKEIRHVGRM ASVNMDPALM FRTRKKKWRS LGSLSQGSTN ATVLDVAQTG
960 970 980 990 1000
GHKKRVRRSS FLNAKKLYED AQMARKVKQY LSNLELEMDE ESLQTLSLQC
1010 1020 1030 1040 1050
EPATNTLPKN PGDKKPVKSE TSPVAPRAGS QQKAQSLPQP QQQPPPAHKI
1060 1070 1080 1090 1100
NQGLQVPAVS LYPSRKKVPV KDLPPFGINS PQALKKILSL SEEGSLERHK
1110 1120 1130 1140 1150
KQAEDTISNA SSQLSSPPTS PQSSPRKGYT LAPSGTVDNF SDSGHSEISS
1160 1170 1180 1190 1200
RSSIVSNSSF DSVPVSLHDE RRQRHSVSIV ETNLGMGRME RRTMIEPDQY
1210 1220 1230 1240 1250
SLGSYAPMSE GRGLYATATV ISSPSTEELS QDQGDRASLD AADSGRGSWT
1260 1270 1280 1290 1300
SCSSGSHDNI QTIQHQRSWE TLPFGHTHFD YSGDPAGLWA SSSHMDQIMF
1310 1320 1330 1340 1350
SDHSTKYNRQ NQSRESLEQA QSRASWASST GYWGEDSEGD TGTIKRRGGK
1360 1370 1380 1390 1400
DVSIEAESSS LTSVTTEETK PVPMPAHIAV ASSTTKGLIA RKEGRYREPP
1410 1420 1430 1440 1450
PTPPGYIGIP ITDFPEGHSH PARKPPDYNV ALQRSRMVAR SSDTAGPSSV
1460 1470 1480 1490
QQPHGHPTSS RPVNKPQWHK PNESDPRLAP YQSQGFSTEE DEDEQVSAV
Length:1,499
Mass (Da):167,417
Last modified:November 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1909E8A12637E001
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y661A0A2R8Y661_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
1,559Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGD3A0A2R8YGD3_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
1,679Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8N8H0Y8N8_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y905H0Y905_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
279Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8T6H0Y8T6_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REY8D6REY8_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RC78D6RC78_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
154Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8H7H0Y8H7_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAK0D6RAK0_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAJ8H0YAJ8_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF2
324Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20772 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB002311 mRNA Translation: BAA20772.2 Different initiation.
CH471056 Genomic DNA Translation: EAX04847.1
CH471056 Genomic DNA Translation: EAX04848.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43277.1

NCBI Reference Sequences

More...
RefSeqi
NP_055062.1, NM_014247.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.744884

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264431; ENSP00000264431; ENSG00000109756

Database of genes from NCBI RefSeq genomes

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GeneIDi
9693

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9693

UCSC genome browser

More...
UCSCi
uc003iqg.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002311 mRNA Translation: BAA20772.2 Different initiation.
CH471056 Genomic DNA Translation: EAX04847.1
CH471056 Genomic DNA Translation: EAX04848.1
CCDSiCCDS43277.1
RefSeqiNP_055062.1, NM_014247.2
UniGeneiHs.744884

3D structure databases

ProteinModelPortaliQ9Y4G8
SMRiQ9Y4G8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115045, 64 interactors
IntActiQ9Y4G8, 38 interactors
MINTiQ9Y4G8
STRINGi9606.ENSP00000264431

PTM databases

iPTMnetiQ9Y4G8
PhosphoSitePlusiQ9Y4G8

Polymorphism and mutation databases

BioMutaiRAPGEF2
DMDMi34395737

Proteomic databases

EPDiQ9Y4G8
jPOSTiQ9Y4G8
MaxQBiQ9Y4G8
PaxDbiQ9Y4G8
PeptideAtlasiQ9Y4G8
PRIDEiQ9Y4G8
ProteomicsDBi86204

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264431; ENSP00000264431; ENSG00000109756
GeneIDi9693
KEGGihsa:9693
UCSCiuc003iqg.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9693
DisGeNETi9693
EuPathDBiHostDB:ENSG00000109756.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RAPGEF2
HGNCiHGNC:16854 RAPGEF2
HPAiHPA057169
MIMi609530 gene
618075 phenotype
neXtProtiNX_Q9Y4G8
OpenTargetsiENSG00000109756
PharmGKBiPA130413152

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3542 Eukaryota
ENOG410XS6B LUCA
GeneTreeiENSGT00940000156418
HOGENOMiHOG000247009
HOVERGENiHBG056658
InParanoidiQ9Y4G8
KOiK08018
OMAiEVCSEHN
OrthoDBi31139at2759
PhylomeDBiQ9Y4G8
TreeFamiTF313184

Enzyme and pathway databases

ReactomeiR-HSA-5673001 RAF/MAP kinase cascade
SIGNORiQ9Y4G8

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RAPGEF2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RAPGEF2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9693

Protein Ontology

More...
PROi
PR:Q9Y4G8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109756 Expressed in 234 organ(s), highest expression level in corpus callosum
CleanExiHS_RAPGEF2
ExpressionAtlasiQ9Y4G8 baseline and differential
GenevisibleiQ9Y4G8 HS

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
cd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR000159 RA_dom
IPR030739 RapGEF2
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR014710 RmlC-like_jellyroll
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR23113 PTHR23113, 1 hit
PTHR23113:SF217 PTHR23113:SF217, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 1 hit
PF00788 RA, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00100 cNMP, 1 hit
SM00228 PDZ, 1 hit
SM00314 RA, 1 hit
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
SSF50156 SSF50156, 1 hit
SSF51206 SSF51206, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50042 CNMP_BINDING_3, 1 hit
PS50106 PDZ, 1 hit
PS50200 RA, 1 hit
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRPGF2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y4G8
Secondary accession number(s): D3DP27
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: November 1, 1999
Last modified: January 16, 2019
This is version 166 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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