Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which spe... See more...

Aliases for ARHGEF3 Gene

Aliases for ARHGEF3 Gene

  • Rho Guanine Nucleotide Exchange Factor 3 2 3 3 4 5
  • XPLN 2 3 4
  • Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues, XPLN 2 3
  • Rho Guanine Nucleotide Exchange Factor (GEF) 3 2 3
  • RhoGEF Protein 2 3
  • GEF3 2 3
  • STA3 2 3
  • Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues 4
  • 59.8 KDA Protein 3
  • DKFZP434F2429 2
  • ARHGEF3 5

External Ids for ARHGEF3 Gene

Previous GeneCards Identifiers for ARHGEF3 Gene

  • GC03M055636
  • GC03M056119
  • GC03M056616
  • GC03M056718

Summaries for ARHGEF3 Gene

Entrez Gene Summary for ARHGEF3 Gene

  • Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGEF3 Gene

ARHGEF3 (Rho Guanine Nucleotide Exchange Factor 3) is a Protein Coding gene. Diseases associated with ARHGEF3 include Methotrexate-Associated Lymphoproliferation and Osteoporosis. Among its related pathways are Guidance Cues and Growth Cone Motility and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is NET1.

UniProtKB/Swiss-Prot Summary for ARHGEF3 Gene

  • Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.

Gene Wiki entry for ARHGEF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF3 Gene

Genomics for ARHGEF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF3

Top Transcription factor binding sites by QIAGEN in the ARHGEF3 gene promoter:
  • ARP-1
  • CREB
  • deltaCREB
  • E47
  • FOXD1
  • GR
  • GR-alpha
  • p53
  • PPAR-alpha
  • Sox5

Genomic Locations for ARHGEF3 Gene

Genomic Locations for ARHGEF3 Gene
chr3:56,727,418-57,079,329
(GRCh38/hg38)
Size:
351,912 bases
Orientation:
Minus strand
chr3:56,761,446-57,113,357
(GRCh37/hg19)
Size:
351,912 bases
Orientation:
Minus strand

Genomic View for ARHGEF3 Gene

Genes around ARHGEF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF3 Gene

Proteins for ARHGEF3 Gene

  • Protein details for ARHGEF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR81-ARHG3_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 3
    Protein Accession:
    Q9NR81
    Secondary Accessions:
    • A8K5U7
    • Q4FZB6
    • Q4QQI5
    • Q4QQQ0
    • Q59F00
    • Q6NUN3
    • Q7Z4U2
    • Q7Z5T2
    • Q9H7T4

    Protein attributes for ARHGEF3 Gene

    Size:
    526 amino acids
    Molecular mass:
    59783 Da
    Quaternary structure:
    • Interacts with RHOA and RHOB.
    SequenceCaution:
    • Sequence=AAH68513.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14891.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92898.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF3 Gene

Post-translational modifications for ARHGEF3 Gene

  • Ubiquitination at Lys249
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGEF3 Gene

Domains & Families for ARHGEF3 Gene

Gene Families for ARHGEF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGEF3 Gene

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

Suggested Antigen Peptide Sequences for ARHGEF3 Gene

GenScript: Design optimal peptide antigens:
  • Exchange factor found in platelets and leukemic and neuronal tissues (ARHG3_HUMAN)
genes like me logo Genes that share domains with ARHGEF3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGEF3 Gene

Function for ARHGEF3 Gene

Molecular function for ARHGEF3 Gene

UniProtKB/Swiss-Prot Function:
Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.

Phenotypes From GWAS Catalog for ARHGEF3 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF3 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 TAS,IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ARHGEF3: view
genes like me logo Genes that share phenotypes with ARHGEF3: view

Animal Models for ARHGEF3 Gene

MGI Knock Outs for ARHGEF3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF3 Gene

Localization for ARHGEF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF3 Gene

Cytoplasm.

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 ARHGEF3 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGEF3: view

Pathways & Interactions for ARHGEF3 Gene

PathCards logo

SuperPathways for ARHGEF3 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 ARHGEF3: view

Pathways by source for ARHGEF3 Gene

2 GeneGo (Thomson Reuters) pathways for ARHGEF3 Gene
  • G-protein signaling_RhoA regulation pathway
  • G-protein signaling_RhoB regulation pathway
21 Qiagen pathways for ARHGEF3 Gene
  • Activation of PKC through GPCR
  • Breast Cancer Regulation by Stathmin1
  • CXCR4 Pathway
  • G-AlphaI Signaling
  • G-AlphaQ Signaling

SIGNOR curated interactions for ARHGEF3 Gene

Activates:

Gene Ontology (GO) - Biological Process for ARHGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007266 Rho protein signal transduction TAS 10873612
GO:0035025 positive regulation of Rho protein signal transduction IBA 21873635
GO:0035556 intracellular signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with ARHGEF3: view

Drugs & Compounds for ARHGEF3 Gene

(3) Drugs for ARHGEF3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARHGEF3: view

Transcripts for ARHGEF3 Gene

mRNA/cDNA for ARHGEF3 Gene

13 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
15 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 ARHGEF3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: -
SP3:
SP4: - -

Relevant External Links for ARHGEF3 Gene

GeneLoc Exon Structure for
ARHGEF3

Expression for ARHGEF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF3 Gene

This gene is overexpressed in Plasma (58.5) and Peripheral blood mononuclear cells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF3 Gene



Protein tissue co-expression partners for ARHGEF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF3

SOURCE GeneReport for Unigene cluster for ARHGEF3 Gene:

Hs.476402

mRNA Expression by UniProt/SwissProt for ARHGEF3 Gene:

Q9NR81-ARHG3_HUMAN
Tissue specificity: Widely expressed. Highest levels are found in adult brain and skeletal muscle. Lower levels are found in heart and kidney.

Evidence on tissue expression from TISSUES for ARHGEF3 Gene

  • Nervous system(4.9)
  • Skin(2.2)
  • Kidney(2.2)
  • Blood(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ARHGEF3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF3 Gene

Orthologs for ARHGEF3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF3 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF3 30 31
  • 91.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef3 30
  • 88.15 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Arhgef3 30 17 31
  • 85.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF3 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF3 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGEF3 30 31
  • 79.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF3 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgef3 30
  • 74.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii arhgef3 30 31
  • 70.89 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 31
  • 8 (a)
ManyToMany
ROM2 31
  • 7 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
Species where no ortholog for ARHGEF3 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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 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 ARHGEF3 Gene

ENSEMBL:
Gene Tree for ARHGEF3 (if available)
TreeFam:
Gene Tree for ARHGEF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF3: view image

Paralogs for ARHGEF3 Gene

(1) SIMAP similar genes for ARHGEF3 Gene using alignment to 10 proteins:

  • ARHG3_HUMAN
  • C9J586_HUMAN
  • C9J5K8_HUMAN
  • C9J609_HUMAN
  • C9JNF2_HUMAN
  • E7EU49_HUMAN
  • E9PG37_HUMAN
  • F8WC29_HUMAN
  • F8WDB7_HUMAN
  • H7C4P0_HUMAN
genes like me logo Genes that share paralogs with ARHGEF3: view

Variants for ARHGEF3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs3732507 - p.Lys13Arg
rs3772219 - p.Leu335Val

Additional dbSNP identifiers (rs#s) for ARHGEF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF3 Gene

Variant ID Type Subtype PubMed ID
dgv1377e212 CNV gain 25503493
esv1591931 CNV insertion 17803354
esv1700976 CNV insertion 17803354
esv2660634 CNV deletion 23128226
esv2666251 CNV deletion 23128226
esv2666798 CNV deletion 23128226
esv2670903 CNV deletion 23128226
esv2676065 CNV deletion 23128226
esv2725308 CNV deletion 23290073
esv3308217 CNV mobile element insertion 20981092
esv3361524 CNV insertion 20981092
esv3392720 CNV duplication 20981092
esv3561922 CNV deletion 23714750
esv3568763 CNV loss 25503493
esv3568765 CNV loss 25503493
esv3584503 CNV gain 24956385
esv3596218 CNV loss 21293372
esv3596219 CNV loss 21293372
esv3596221 CNV loss 21293372
esv3596222 CNV loss 21293372
esv3596223 CNV loss 21293372
nsv1074596 CNV deletion 25765185
nsv1116990 CNV deletion 24896259
nsv1139116 CNV deletion 24896259
nsv1139117 CNV deletion 24896259
nsv1139118 CNV deletion 24896259
nsv1160943 CNV duplication 26073780
nsv507095 OTHER sequence alteration 20534489
nsv509827 OTHER sequence alteration 20534489
nsv512803 CNV insertion 21212237
nsv515842 CNV loss 19592680
nsv523538 CNV loss 19592680
nsv590363 CNV loss 21841781

Variation tolerance for ARHGEF3 Gene

Residual Variation Intolerance Score: 52.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.31; 90.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF3 Gene

Human Gene Mutation Database (HGMD)
ARHGEF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF3 Gene

Disorders for ARHGEF3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGEF3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
methotrexate-associated lymphoproliferation
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
febrile seizures, familial, 8
  • feb8
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGEF3

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 ARHGEF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF3 Gene

Publications for ARHGEF3 Gene

  1. XPLN, a guanine nucleotide exchange factor for RhoA and RhoB, but not RhoC. (PMID: 12221096) Arthur WT … Wennerberg K (The Journal of biological chemistry 2002) 3 4 23
  2. Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (PMID: 10873612) Thiesen S … Nothwang HG (Biochemical and biophysical research communications 2000) 2 3 4
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41
  4. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. (PMID: 21452313) Freudenberg J … Bae SC (Arthritis and rheumatism 2011) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for ARHGEF3 Gene

  • Signalway Proteins for ARHGEF3

Sources for ARHGEF3 Gene