Free for academic non-profit institutions. Other users need a Commercial license

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
  • Proliferating Cell Nucleolar Antigen P40 3 4
  • Guanine Nucleotide Exchange Factor H1 3 4
  • Microtubule-Regulated Rho-GEF 3 4
  • GEF-H1 3 4
  • LFP40 3 4
  • Rho Guanine Nucleotide Exchange Factor 2 3
  • KIAA0651 4
  • NEDMHM 3
  • GEFH1 3
  • GEF 3
  • P40 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 p75 NTR receptor-mediated signalling and G-AlphaQ Signaling. 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 AKAP13.

UniProtKB/Swiss-Prot 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

Additional gene information for ARHGEF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF2 Gene

Genomics for ARHGEF2 Gene

GeneHancer (GH) Regulatory Elements for ARHGEF2 Gene

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 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 677.6 +31.7 31693 19 MLX ZFP64 FEZF1 DMAP1 IRF4 SLC30A9 ZNF213 ZNF416 ZNF143 ZNF263 ARHGEF2 KHDC4 GON4L CLK2 RIT1 PRCC RRNAD1 ENSG00000271267 THBS3 RUSC1-AS1
GH01J156004 Enhancer 0.7 ENCODE dbSUPER 650.7 +1.8 1826 1.2 ELF3 SAP130 SP5 ETV5 EGR2 ARHGEF2 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 RIT1 LMNA MEX3A SNORA80E
GH01J156006 Enhancer 0.5 ENCODE dbSUPER 650.7 +0.2 225 0.2 PRDM10 ARHGEF2 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 LMNA MEX3A SNORA80E GLMP
GH01J156007 Enhancer 0.5 ENCODE dbSUPER 650.7 -0.1 -95 0.2 PRDM10 ARHGEF2 RXFP4 KHDC4 UBQLN4 LAMTOR2 SCARNA4 MEX3A LMNA SNORA80E GLMP
GH01J156456 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -450.3 -450306 2.7 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 C1orf61 ENSG00000236947 KHDC4 GON4L ENSG00000271267 RRNAD1 LOC246784 LMNA ASH1L MSTO2P
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ARHGEF2 Gene

Genomic Locations for ARHGEF2 Gene
chr1:155,946,640-156,007,070
(GRCh38/hg38)
Size:
60,431 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA31626.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA33634.1; Type=Frameshift; Positions=887, 984; 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 posLast=438438 and Lys148
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGEF2 Gene

Domains & Families for ARHGEF2 Gene

Gene Families for ARHGEF2 Gene

Protein Domains for ARHGEF2 Gene

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 Crohns 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 TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IDA,TAS --
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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Gene Ontology (GO) - Cellular Components for ARHGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005622 intracellular 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

genes like me logo Genes that share pathways with ARHGEF2: view

SIGNOR curated interactions for ARHGEF2 Gene

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

(15) Drugs for ARHGEF2 Gene - From: 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 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 B
  • 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 C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
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)
genes like me logo Genes that share compounds with ARHGEF2: view

Transcripts for ARHGEF2 Gene

Unigene Clusters for ARHGEF2 Gene

Rho/Rac guanine nucleotide exchange factor (GEF) 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ARHGEF2

Expression for ARHGEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF2 Gene:

ARHGEF2

SOURCE GeneReport for Unigene cluster for ARHGEF2 Gene:

Hs.743352

Evidence on tissue expression from TISSUES for ARHGEF2 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Liver(4.2)
  • Lung(3.1)
  • Heart(2.2)
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 34 33
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGEF2 34 33
  • 90.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF2 34 33
  • 88.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF2 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef2 33
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Arhgef2 16 34 33
  • 84.93 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGEF2 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef2 33
  • 66.29 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgef2 34 33
  • 62.1 (n)
OneToMany
arhgef1a 34
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10188 34
  • 16 (a)
OneToMany
Species where no ortholog for ARHGEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for ARHGEF2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000200811 -- 155,984,202(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000216692 -- 155,975,653(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000255798 -- 155,980,911(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000311177 -- 155,946,673(-) T/G downstream_transcript_variant
rs1000361967 -- 155,947,135(-) A/G 3_prime_UTR_variant

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

(5) MalaCards diseases for ARHGEF2 Gene - From: HGMD, OMIM, ClinVar, 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
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 22 58
  2. PAK4 mediates morphological changes through the regulation of GEF-H1. (PMID: 15827085) Callow MG … Smeal T (Journal of cell science 2005) 3 4 22 58
  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 58
  4. Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. (PMID: 28453519) Ravindran E … Kaindl AM (PLoS genetics 2017) 3 4 58
  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 58

Products for ARHGEF2 Gene