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Entry version 194 (05 Jun 2019)
Sequence version 4 (22 Jul 2008)
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Protein

Rho guanine nucleotide exchange factor 2

Gene

ARHGEF2

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

Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA. Involved in innate immune signaling transduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterial peptidoglycans; acts as a signaling intermediate between NOD2 receptor and RIPK2 kinase. Contributes to the tyrosine phosphorylation of RIPK2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Overexpression activates Rho-, but not Rac-GTPases, and increases paracellular permeability (By similarity). Involved in neuronal progenitor cell division and differentiation (PubMed:28453519). Involved in the migration of precerebellar neurons (By similarity).By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri39 – 86Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST48

<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, Guanine-nucleotide releasing factor
Biological processCell cycle, Cell division, Differentiation, Immunity, Innate immunity, Mitosis, Neurogenesis
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q92974

<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:
Rho guanine nucleotide exchange factor 2
Alternative name(s):
Guanine nucleotide exchange factor H1
Short name:
GEF-H1
Microtubule-regulated Rho-GEF
Proliferating cell nucleolar antigen p40
<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:ARHGEF2
Synonyms:KIAA0651, LFP40
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:682 ARHGEF2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607560 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92974

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Golgi apparatus, Membrane, Microtubule, Tight junction

<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

Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain-hindbrain malformations, and variable dysmorphic features.
Related information in OMIM

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>Mutagenesisi53C → R: Abolishes microtubule binding, increased activity in vitro. 1 Publication1
Mutagenesisi143S → A: Abolishes phosphorylation by PAK4, self aggregation in the cytoplasm. Increases activity; when associated with A-896. 1 Publication1
Mutagenesisi394Y → A: Reduces phosphorylation level, normal microtubule localization and activity. 1 Publication1
Mutagenesisi679T → A: Reduces phosphorylation level. 1 Publication1
Mutagenesisi886S → A: Normal activity. 1
Mutagenesisi886S → D: Increases activity. Abolishes nucleotide exchange activity; when associated with D-960. 1
Mutagenesisi896S → A: Abolishes phosphorylation by PAK4, self aggregation in the cytoplasm. Increases activity; when associated with A-143. 1 Publication1
Mutagenesisi960S → A: Normal activity. 1
Mutagenesisi960S → D: Increases activity. Abolishes nucleotide exchange activity; when associated with D-886. 1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9181

MalaCards human disease database

More...
MalaCardsi
ARHGEF2
MIMi617523 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000116584

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24972

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARHGEF2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205830906

<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_00000809091 – 986Rho guanine nucleotide exchange factor 2Add BLAST986

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 residuei109PhosphoserineCombined sources1
Modified residuei122PhosphoserineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei133PhosphoserineCombined sources1
Modified residuei137PhosphoserineCombined sources1
Modified residuei143Phosphoserine; by PAK41 Publication1
Modified residuei151PhosphoserineCombined sources1
Modified residuei163PhosphoserineCombined sources1
Modified residuei172PhosphoserineCombined sources1
Modified residuei174PhosphoserineCombined sources1
Modified residuei177PhosphoserineCombined sources1
Modified residuei353N6-acetyllysineCombined sources1
Modified residuei645PhosphoserineCombined sources1
Modified residuei648PhosphoserineCombined sources1
Modified residuei679Phosphothreonine; by MAPK1 or MAPK3Combined sources1 Publication1
Modified residuei691PhosphoserineCombined sources1
Modified residuei696PhosphoserineCombined sources1
Modified residuei711PhosphoserineCombined sources1
Modified residuei782PhosphoserineBy similarity1
Modified residuei886Phosphoserine; by PAK1 and AURKACombined sources2 Publications1
Modified residuei894PhosphotyrosineCombined sources1
Modified residuei896Phosphoserine; by PAK41 Publication1
Modified residuei932PhosphoserineCombined sources1
Modified residuei940PhosphoserineCombined sources1
Modified residuei941PhosphoserineCombined sources1
Modified residuei945PhosphothreonineCombined sources1
Modified residuei947PhosphoserineCombined sources1
Modified residuei952PhosphoserineBy similarity1
Modified residuei953PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei960PhosphoserineCombined sources1 Publication1

<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

Phosphorylation of Ser-886 by PAK1 induces binding to protein YWHAZ, promoting its relocation to microtubules and the inhibition of its activity. Phosphorylated by AURKA and CDK1 during mitosis, which negatively regulates its activity. Phosphorylation by MAPK1 or MAPK3 increases nucleotide exchange activity. Phosphorylation by PAK4 releases GEF-H1 from the microtubules. Phosphorylated on serine, threonine and tyrosine residues in a RIPK2-dependent manner.4 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92974

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92974

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92974

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

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PaxDbi
Q92974

PeptideAtlas

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PeptideAtlasi
Q92974

PRoteomics IDEntifications database

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PRIDEi
Q92974

ProteomicsDB human proteome resource

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ProteomicsDBi
75638
75639 [Q92974-2]
75640 [Q92974-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q92974-2 [Q92974-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92974

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

More...
PhosphoSitePlusi
Q92974

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by bacterial peptidoglycans stimulation, such as muramyl dipeptide and in biopsies from inflamed mucosal areas of Crohn's disease patients.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000116584 Expressed in 246 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q92974 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92974 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043437

<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

Found in a complex composed at least of ARHGEF2, NOD2 and RIPK2. Interacts with RIPK2; the interaction mediates tyrosine phosphorylation of RIPK2 by Src kinase CSK. Interacts with RIPK1 and RIPK3. Interacts with YWHAZ/14-3-3 zeta; when phosphorylated at Ser-886. Interacts with the kinases PAK4, AURKA and MAPK1. Interacts with RHOA and RAC1. Interacts with NOD1. Interacts (via the N-terminal zinc finger) with CAPN6 (via domain II). Interacts with DYNLT1 (By similarity).By similarity

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114618, 65 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q92974

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q92974

Protein interaction database and analysis system

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IntActi
Q92974, 47 interactors

Molecular INTeraction database

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MINTi
Q92974

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354837

<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

Secondary structure

1986
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q92974

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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>Domaini235 – 432DHPROSITE-ProRule annotationAdd BLAST198
Domaini472 – 571PHPROSITE-ProRule annotationAdd BLAST100

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni131 – 161Interaction with DYNLT1By similarityAdd BLAST31

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili587 – 611Sequence analysisAdd BLAST25
Coiled coili798 – 867Sequence analysisAdd BLAST70

<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 DH (DBL-homology) domain interacts with and promotes loading of GTP on RhoA. Promotes tyrosine phosphorylation of RIPK2.
The PH domain has no affinity for phosphoinositides suggesting that it does not interact directly with membranes.1 Publication
The phorbol-ester/DAG-type zinc-finger and the C-terminal coiled-coil domains (606-986) are both important for association with microtubules.2 Publications

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri39 – 86Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR0Y Eukaryota
ENOG410XT68 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158341

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q92974

KEGG Orthology (KO)

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KOi
K12791

Database of Orthologous Groups

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OrthoDBi
69816at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92974

TreeFam database of animal gene trees

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TreeFami
TF325887

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00029 C1, 1 hit
cd13393 PH_ARHGEF2, 1 hit
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037806 ARHGEF2_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR002219 PE/DAG-bd
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17838 PH_16, 1 hit
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00109 C1, 1 hit
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92974-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRIESLTRA RIDRSRELAS KTREKEKMKE AKDARYTNGH LFTTISVSGM
60 70 80 90 100
TMCYACNKSI TAKEALICPT CNVTIHNRCK DTLANCTKVK QKQQKAALLK
110 120 130 140 150
NNTALQSVSL RSKTTIRERP SSAIYPSDSF RQSLLGSRRG RSSLSLAKSV
160 170 180 190 200
STTNIAGHFN DESPLGLRRI LSQSTDSLNM RNRTLSVESL IDEAEVIYSE
210 220 230 240 250
LMSDFEMDEK DFAADSWSLA VDSSFLQQHK KEVMKQQDVI YELIQTELHH
260 270 280 290 300
VRTLKIMTRL FRTGMLEELH LEPGVVQGLF PCVDELSDIH TRFLSQLLER
310 320 330 340 350
RRQALCPGST RNFVIHRLGD LLISQFSGPS AEQMCKTYSE FCSRHSKALK
360 370 380 390 400
LYKELYARDK RFQQFIRKVT RPAVLKRHGV QECILLVTQR ITKYPLLISR
410 420 430 440 450
ILQHSHGIEE ERQDLTTALG LVKELLSNVD EGIYQLEKGA RLQEIYNRMD
460 470 480 490 500
PRAQTPVPGK GPFGREELLR RKLIHDGCLL WKTATGRFKD VLVLLMTDVL
510 520 530 540 550
VFLQEKDQKY IFPTLDKPSV VSLQNLIVRD IANQEKGMFL ISAAPPEMYE
560 570 580 590 600
VHTASRDDRS TWIRVIQQSV RTCPSREDFP LIETEDEAYL RRIKMELQQK
610 620 630 640 650
DRALVELLRE KVGLFAEMTH FQAEEDGGSG MALPTLPRGL FRSESLESPR
660 670 680 690 700
GERLLQDAIR EVEGLKDLLV GPGVELLLTP REPALPLEPD SGGNTSPGVT
710 720 730 740 750
ANGEARTFNG SIELCRADSD SSQRDRNGNQ LRSPQEEALQ RLVNLYGLLH
760 770 780 790 800
GLQAAVAQQD TLMEARFPEG PERREKLCRA NSRDGEAGRA GAAPVAPEKQ
810 820 830 840 850
ATELALLQRQ HALLQEELRR CRRLGEERAT EAGSLEARLR ESEQARALLE
860 870 880 890 900
REAEEARRQL AALGQTEPLP AEAPWARRPV DPRRRSLPAG DALYLSFNPP
910 920 930 940 950
QPSRGTDRLD LPVTTRSVHR NFEDRERQEL GSPEERLQDS SDPDTGSEEE
960 970 980
GSSRLSPPHS PRDFTRMQDI PEETESRDGE AVASES
Length:986
Mass (Da):111,543
Last modified:July 22, 2008 - v4
<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:i8986AF0A1174EA71
GO
Isoform 2 (identifier: Q92974-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     194-194: Missing.

Show »
Length:985
Mass (Da):111,471
Checksum:i6CD4CC60C17E19B4
GO
Isoform 3 (identifier: Q92974-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.
     194-194: Missing.

Show »
Length:958
Mass (Da):108,242
Checksum:iE9A0C474243344D3
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GYM8V9GYM8_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
1,031Annotation score:

Annotation score:2 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>
V9GYF0V9GYF0_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
263Annotation 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>
V9GYF5V9GYF5_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
178Annotation 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>
Q5VY93Q5VY93_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
264Annotation 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>
V9GY94V9GY94_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
83Annotation 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>
V9GZ14V9GZ14_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
229Annotation 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>
V9GYG5V9GYG5_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
214Annotation 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>
V9GZ58V9GZ58_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
59Annotation 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>
A0A1Y8EN19A0A1Y8EN19_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF2
7Annotation 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 AAC97383 differs from that shown. Sequence differs at a large extent from the sequence shown in the paper.Curated
The sequence AAH20567 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA31626 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA33634 differs from that shown. Reason: Frameshift at positions 887 and 984.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1 – 20MSRIE…RELAS → IVGAAGHGRALSLCFDNGPL EQVPLALEETASIGMPRPQG GPLPADPRRTGHLSGTGHQG GYASRLDQDSCHPSAGPLDH SATGMLSKSVPVSGINCLLD RSDTDGNVSQSSAIDLRKRC SQLEGHSGTRVGSSLRQTFS FLSGMTGKA in BAA31626 (PubMed:9734811).CuratedAdd BLAST20
Sequence conflicti631M → L in CAA33634 (PubMed:2466560).Curated1
Sequence conflicti868P → Q in CAA33634 (PubMed:2466560).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0394571 – 27Missing in isoform 3. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_039458194Missing in isoform 2 and isoform 3. 3 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U72206 mRNA Translation: AAC97383.1 Sequence problems.
AF486838 mRNA Translation: AAL96658.1
AB014551 mRNA Translation: BAA31626.3 Different initiation.
AL512715 mRNA Translation: CAC21656.1
AL355388 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53013.1
CH471121 Genomic DNA Translation: EAW53015.1
CH471121 Genomic DNA Translation: EAW53014.1
BC020567 mRNA Translation: AAH20567.1 Different initiation.
BT007407 mRNA Translation: AAP36075.1
X15610 mRNA Translation: CAA33634.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1125.1 [Q92974-3]
CCDS53375.1 [Q92974-2]
CCDS53376.1 [Q92974-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S28660

NCBI Reference Sequences

More...
RefSeqi
NP_001155855.1, NM_001162383.1 [Q92974-1]
NP_001155856.1, NM_001162384.1 [Q92974-2]
NP_004714.2, NM_004723.3 [Q92974-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313667; ENSP00000314787; ENSG00000116584 [Q92974-2]
ENST00000313695; ENSP00000315325; ENSG00000116584 [Q92974-3]
ENST00000361247; ENSP00000354837; ENSG00000116584 [Q92974-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9181

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9181

UCSC genome browser

More...
UCSCi
uc001fmr.3 human [Q92974-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

ARHGEF2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U72206 mRNA Translation: AAC97383.1 Sequence problems.
AF486838 mRNA Translation: AAL96658.1
AB014551 mRNA Translation: BAA31626.3 Different initiation.
AL512715 mRNA Translation: CAC21656.1
AL355388 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53013.1
CH471121 Genomic DNA Translation: EAW53015.1
CH471121 Genomic DNA Translation: EAW53014.1
BC020567 mRNA Translation: AAH20567.1 Different initiation.
BT007407 mRNA Translation: AAP36075.1
X15610 mRNA Translation: CAA33634.1 Frameshift.
CCDSiCCDS1125.1 [Q92974-3]
CCDS53375.1 [Q92974-2]
CCDS53376.1 [Q92974-1]
PIRiS28660
RefSeqiNP_001155855.1, NM_001162383.1 [Q92974-1]
NP_001155856.1, NM_001162384.1 [Q92974-2]
NP_004714.2, NM_004723.3 [Q92974-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EFXX-ray2.45A439-582[»]
SMRiQ92974
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114618, 65 interactors
CORUMiQ92974
ELMiQ92974
IntActiQ92974, 47 interactors
MINTiQ92974
STRINGi9606.ENSP00000354837

PTM databases

iPTMnetiQ92974
PhosphoSitePlusiQ92974

Polymorphism and mutation databases

BioMutaiARHGEF2
DMDMi205830906

Proteomic databases

EPDiQ92974
jPOSTiQ92974
MaxQBiQ92974
PaxDbiQ92974
PeptideAtlasiQ92974
PRIDEiQ92974
ProteomicsDBi75638
75639 [Q92974-2]
75640 [Q92974-3]
TopDownProteomicsiQ92974-2 [Q92974-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9181
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313667; ENSP00000314787; ENSG00000116584 [Q92974-2]
ENST00000313695; ENSP00000315325; ENSG00000116584 [Q92974-3]
ENST00000361247; ENSP00000354837; ENSG00000116584 [Q92974-1]
GeneIDi9181
KEGGihsa:9181
UCSCiuc001fmr.3 human [Q92974-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9181
DisGeNETi9181

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ARHGEF2
HGNCiHGNC:682 ARHGEF2
HPAiHPA043437
MalaCardsiARHGEF2
MIMi607560 gene
617523 phenotype
neXtProtiNX_Q92974
OpenTargetsiENSG00000116584
PharmGKBiPA24972

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR0Y Eukaryota
ENOG410XT68 LUCA
GeneTreeiENSGT00940000158341
InParanoidiQ92974
KOiK12791
OrthoDBi69816at2759
PhylomeDBiQ92974
TreeFamiTF325887

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
SIGNORiQ92974

Miscellaneous databases

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

More...
ChiTaRSi
ARHGEF2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ARHGEF2

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

More...
GenomeRNAii
9181

Protein Ontology

More...
PROi
PR:Q92974

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116584 Expressed in 246 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ92974 baseline and differential
GenevisibleiQ92974 HS

Family and domain databases

CDDicd00029 C1, 1 hit
cd13393 PH_ARHGEF2, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR037806 ARHGEF2_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR002219 PE/DAG-bd
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain
PfamiView protein in Pfam
PF17838 PH_16, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 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 nameiARHG2_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: Q92974
Secondary accession number(s): D3DVA6
, O75142, Q15079, Q5VY92, Q8TDA3, Q8WUG4, Q9H023
<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: May 30, 2000
Last sequence update: July 22, 2008
Last modified: June 5, 2019
This is version 194 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 1
    Human chromosome 1: 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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