Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] See more...

Aliases for ARHGEF2 Gene

Aliases for ARHGEF2 Gene

  • Rho/Rac Guanine Nucleotide Exchange Factor 2 2 3 5
  • Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 2 2 2 3
  • GEF-H1 2 3 4
  • LFP40 2 3 4
  • Rho Guanine Nucleotide Exchange Factor 2 3 4
  • Proliferating Cell Nucleolar Antigen P40 3 4
  • Guanine Nucleotide Exchange Factor H1 3 4
  • Microtubule-Regulated Rho-GEF 3 4
  • KIAA0651 2 4
  • GEFH1 2 3
  • Lfc 2 3
  • P40 2 3
  • ARHGEF2 5
  • NEDMHM 3
  • GEF 3

External Ids for ARHGEF2 Gene

Previous GeneCards Identifiers for ARHGEF2 Gene

  • GC01M153779
  • GC01M151676
  • GC01M152694
  • GC01M153133
  • GC01M152729
  • GC01M154183
  • GC01M155916
  • GC01M127277

Summaries for ARHGEF2 Gene

Entrez Gene Summary for ARHGEF2 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

GeneCards Summary for ARHGEF2 Gene

ARHGEF2 (Rho/Rac Guanine Nucleotide Exchange Factor 2) is a Protein Coding gene. Diseases associated with ARHGEF2 include Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations and Unilateral Focal Polymicrogyria. Among its related pathways are Guidance Cues and Growth Cone Motility and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transcription factor binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF28.

UniProtKB/Swiss-Prot Summary for ARHGEF2 Gene

  • 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).

Gene Wiki entry for ARHGEF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF2 Gene

Genomics for ARHGEF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J155965 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 627.6 +31.7 31693 19 ARHGAP35 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 TFE3 LEF1 IKZF1 ARHGEF2 RIT1 KHDC4 GON4L CLK2 PAQR6 PRCC RRNAD1 YY1AP1 ENSG00000271267
GH01J156004 Enhancer 0.6 ENCODE dbSUPER 600.7 +1.8 1826 1.2 ZBTB17 EGR2 SP5 ARHGEF2 lnc-ARHGEF2-1 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 RIT1 LMNA MEX3A
GH01J156007 Enhancer 0.4 ENCODE dbSUPER 600.7 -0.1 -95 0.2 PRDM10 ARHGEF2 MN308813 lnc-ARHGEF2-1 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 LMNA MEX3A
GH01J156006 Enhancer 0.4 ENCODE dbSUPER 600.7 +0.2 225 0.2 PRDM10 ARHGEF2 lnc-ARHGEF2-1 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 LMNA MEX3A SNORA80E
GH01J156456 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -450.2 -450202 2.9 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 LEF1 HSALNG0007590 MIR9-1HG lnc-C1orf61-2-003 KHDC4 GON4L ENSG00000271267 RRNAD1 SMU1P1 CCT3 LMNA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF2

Top Transcription factor binding sites by QIAGEN in the ARHGEF2 gene promoter:
  • FOXO1
  • FOXO1a
  • p53
  • POU2F1
  • POU2F1a
  • Sp1
  • STAT5A

Genomic Locations for ARHGEF2 Gene

Genomic Locations for ARHGEF2 Gene
chr1:155,946,839-156,007,070
(GRCh38/hg38)
Size:
60,232 bases
Orientation:
Minus strand
chr1:155,916,630-155,976,861
(GRCh37/hg19)
Size:
60,232 bases
Orientation:
Minus strand

Genomic View for ARHGEF2 Gene

Genes around ARHGEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF2 Gene

Proteins for ARHGEF2 Gene

  • Protein details for ARHGEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92974-ARHG2_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 2
    Protein Accession:
    Q92974
    Secondary Accessions:
    • D3DVA6
    • O75142
    • Q15079
    • Q5VY92
    • Q8TDA3
    • Q8WUG4
    • Q9H023

    Protein attributes for ARHGEF2 Gene

    Size:
    986 amino acids
    Molecular mass:
    111543 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAC97383.1; Type=Miscellaneous discrepancy; Note=Sequence differs at a large extent from the sequence shown in the paper.; Evidence={ECO:0000305}; Sequence=AAH20567.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA31626.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA33634.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF2 Gene

    Alternative splice isoforms for ARHGEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF2 Gene

Post-translational modifications for ARHGEF2 Gene

  • 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.
  • Ubiquitination at Lys148 and Lys438
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ARHGEF2

No data available for DME Specific Peptides for ARHGEF2 Gene

Domains & Families for ARHGEF2 Gene

Gene Families for ARHGEF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ARHGEF2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGEF2 Gene

GenScript: Design optimal peptide antigens:
  • Proliferating cell nucleolar antigen p40 (ARHG2_HUMAN)
  • cDNA FLJ55568, highly similar to Rho/Rac guanine nucleotide exchange factor 2 (B7Z977_HUMAN)
  • Rho/rac guanine nucleotide exchange factor (GEF) 2, isoform CRA_a (D3DVA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92974

UniProtKB/Swiss-Prot:

ARHG2_HUMAN :
  • The DH (DBL-homology) domain interacts with and promotes loading of GTP on RhoA. Promotes tyrosine phosphorylation of RIPK2.
Domain:
  • 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.
  • The phorbol-ester/DAG-type zinc-finger and the C-terminal coiled-coil domains (606-986) are both important for association with microtubules.
genes like me logo Genes that share domains with ARHGEF2: view

Function for ARHGEF2 Gene

Molecular function for ARHGEF2 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Induction:
Up-regulated by bacterial peptidoglycans stimulation, such as muramyl dipeptide and in biopsies from inflamed mucosal areas of Crohn's disease patients.

Phenotypes From GWAS Catalog for ARHGEF2 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IDA 9857026
GO:0005515 protein binding IPI 14970201
GO:0008017 microtubule binding IDA 9857026
GO:0008134 transcription factor binding ISS --
genes like me logo Genes that share ontologies with ARHGEF2: view
genes like me logo Genes that share phenotypes with ARHGEF2: view

Human Phenotype Ontology for ARHGEF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF2 Gene

Localization for ARHGEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF2 Gene

Cytoplasm, cytoskeleton. Cytoplasm. Cell junction, tight junction. Golgi apparatus. Cytoplasm, cytoskeleton, spindle. Cell projection, ruffle membrane. Cytoplasmic vesicle. Note=Localizes to the tips of cortical microtubules of the mitotic spindle during cell division, and is further released upon microtubule depolymerization (PubMed:15827085). Recruited into membrane ruffles induced by S.flexneri at tight junctions of polarized epithelial cells (PubMed:19043560). Colocalized with NOD2 and RIPK2 in vesicles and with the cytoskeleton (PubMed:21887730). {ECO:0000269 PubMed:15827085, ECO:0000269 PubMed:19043560, ECO:0000269 PubMed:21887730}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGEF2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ARHGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA,IDA 21887730
GO:0005794 Golgi apparatus IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with ARHGEF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGEF2 Gene

Pathways & Interactions for ARHGEF2 Gene

PathCards logo

SuperPathways for ARHGEF2 Gene

SuperPathway Contained pathways
1 p75 NTR receptor-mediated signalling
2 GPCR Pathway
.73
.62
.59
.58
3 G-AlphaQ Signaling
.47
.47
.40
4 Signaling by GPCR
5 fMLP Pathway
.39
.31
genes like me logo Genes that share pathways with ARHGEF2: view

Pathways by source for ARHGEF2 Gene

3 GeneGo (Thomson Reuters) pathways for ARHGEF2 Gene
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway
  • G-protein signaling_RhoB regulation pathway
22 Qiagen pathways for ARHGEF2 Gene
  • Activation of PKC through GPCR
  • Breast Cancer Regulation by Stathmin1
  • CXCR4 Pathway
  • Epithelial Tight Junctions
  • G-AlphaI Signaling
1 Cell Signaling Technology pathway for ARHGEF2 Gene

SIGNOR curated interactions for ARHGEF2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARHGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0000902 cell morphogenesis IMP 11912491
GO:0002376 immune system process IEA --
GO:0006886 intracellular protein transport NAS 9857026
GO:0007015 actin filament organization IMP 9857026
genes like me logo Genes that share ontologies with ARHGEF2: view

Drugs & Compounds for ARHGEF2 Gene

(16) Drugs for ARHGEF2 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
NSC 23766 Pharma Selective inhibitor of Rac1-GEF interaction., Selective inhibitor of Rac1-GEF interaction; antioncogenic 0

(12) Additional Compounds for ARHGEF2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(1) ApexBio Compounds for ARHGEF2 Gene

Compound Action Cas Number
NSC 23766 Selective inhibitor of Rac1-GEF interaction. 1177865-17-6
genes like me logo Genes that share compounds with ARHGEF2: view

Drug Products

Transcripts for ARHGEF2 Gene

mRNA/cDNA for ARHGEF2 Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6: - - - - -
SP7:

ExUns: 23 ^ 24a · 24b ^ 25a · 25b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ARHGEF2 Gene

GeneLoc Exon Structure for
ARHGEF2

Expression for ARHGEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF2 Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for ARHGEF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.3), Frontal cortex (7.7), Lymph node (7.7), and Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF2 Gene



Protein tissue co-expression partners for ARHGEF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF2

SOURCE GeneReport for Unigene cluster for ARHGEF2 Gene:

Hs.743352

Evidence on tissue expression from TISSUES for ARHGEF2 Gene

  • Nervous system(4.6)
  • Blood(4.5)
  • Liver(4.4)
  • Lung(3.2)
  • Heart(2.7)
  • Intestine(2.5)
  • Kidney(2.4)
  • Muscle(2.3)
  • Lymph node(2.3)
  • Bone marrow(2.3)
  • Spleen(2.2)
  • Skin(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with ARHGEF2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF2 Gene

Orthologs for ARHGEF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF2 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF2 30 31
  • 90.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF2 30 31
  • 88.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF2 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef2 30
  • 85.2 (n)
Mouse
(Mus musculus)
Mammalia Arhgef2 30 17 31
  • 84.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF2 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgef2 30
  • 66.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii arhgef2 30 31
  • 62.1 (n)
OneToMany
arhgef1a 31
  • 45 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG10188 31
  • 16 (a)
OneToMany
Species where no ortholog for ARHGEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARHGEF2 Gene

ENSEMBL:
Gene Tree for ARHGEF2 (if available)
TreeFam:
Gene Tree for ARHGEF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF2: view image

Paralogs for ARHGEF2 Gene

(4) SIMAP similar genes for ARHGEF2 Gene using alignment to 10 proteins:

  • ARHG2_HUMAN
  • D3DVA5_HUMAN
  • Q5VY93_HUMAN
  • V9GY94_HUMAN
  • V9GYF0_HUMAN
  • V9GYF5_HUMAN
  • V9GYG5_HUMAN
  • V9GYM8_HUMAN
  • V9GZ14_HUMAN
  • V9GZ58_HUMAN
genes like me logo Genes that share paralogs with ARHGEF2: view

Variants for ARHGEF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724752 Likely Benign: not provided 155,962,701(-) C/T SYNONYMOUS_VARIANT
729577 Benign: not provided 155,963,056(-) G/A SYNONYMOUS_VARIANT
738610 Likely Benign: not provided 155,969,241(-) G/A SYNONYMOUS_VARIANT
746850 Likely Benign: not provided 155,957,862(-) C/T SYNONYMOUS_VARIANT
773284 Benign: not provided 155,950,335(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGEF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF2 Gene

Variant ID Type Subtype PubMed ID
esv33869 CNV loss 17666407
nsv509513 CNV insertion 20534489

Variation tolerance for ARHGEF2 Gene

Residual Variation Intolerance Score: 3.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF2 Gene

Human Gene Mutation Database (HGMD)
ARHGEF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF2 Gene

Disorders for ARHGEF2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ARHGEF2 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARHG2_HUMAN
  • Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM) [MIM:617523]: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain-hindbrain malformations, and variable dysmorphic features. {ECO:0000269 PubMed:28453519}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARHGEF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ARHGEF2: view

No data available for Genatlas for ARHGEF2 Gene

Publications for ARHGEF2 Gene

  1. Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPases. (PMID: 9857026) Ren Y … Busch H (The Journal of biological chemistry 1998) 2 3 4 23
  2. PAK4 mediates morphological changes through the regulation of GEF-H1. (PMID: 15827085) Callow MG … Smeal T (Journal of cell science 2005) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  4. Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. (PMID: 28453519) Ravindran E … Kaindl AM (PLoS genetics 2017) 3 4
  5. Crystal structure of hGEF-H1 PH domain provides insight into incapability in phosphoinositide binding. (PMID: 26820534) Jiang Y … Ouyang S (Biochemical and biophysical research communications 2016) 3 4

Products for ARHGEF2 Gene