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Aliases for ARHGEF3 Gene

Aliases for ARHGEF3 Gene

  • Rho Guanine Nucleotide Exchange Factor 3 2 3 5
  • 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
  • XPLN 3 4
  • Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues 4
  • 59.8 KDA Protein 3
  • GEF3 3
  • STA3 3

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 Charcot-Marie-Tooth Disease, Type 4H and Osteoporosis. Among its related pathways are p75 NTR receptor-mediated signalling and Phospholipase-C Pathway. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is NET1.

UniProtKB/Swiss-Prot for ARHGEF3 Gene

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

Gene Wiki entry for ARHGEF3 Gene

Additional gene information for ARHGEF3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF3 Gene

Genomics for ARHGEF3 Gene

Regulatory Elements for ARHGEF3 Gene

Enhancers for ARHGEF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H056794 1.6 Ensembl ENCODE dbSUPER 17 +280.6 280629 8 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ARHGEF3 CCDC66 GC03P056724 GC03M056906
GH03H056752 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +324.4 324365 5 HDGF PKNOX1 TBL1XR1 BATF ATF7 ETV6 RUNX3 IKZF2 CREM JUNB ARHGEF3 CCDC66 GC03P056724 GC03M056906
GH03H056921 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +155.0 154965 6 MAX PYGO2 ZNF7 POLR2A RUNX3 ZBTB20 ZNF639 RFX1 CAVIN1 ZNF740 CCDC66 FAM208A DENND6A APPL1 ARHGEF3 PDE12 GC03M056906 ARHGEF3-AS1
GH03H057016 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +62.0 62043 1 PKNOX1 NFRKB ZSCAN4 TCF12 FOS RCOR1 ETV6 RUNX3 CREM ZBTB2 FLNB APPL1 PDE12 SPATA12 ARHGEF3 CCDC66 ARHGEF3-AS1
GH03H057003 1.4 Ensembl ENCODE dbSUPER 12.2 +72.5 72463 6 TBP SIN3A RAD21 HSF1 FOS RCOR1 SMARCB1 ZNF217 MAFF SMARCA4 ARHGEF3 SPATA12 ARHGEF3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGEF3 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153053 329 1601 HDGF SREBF2 SIN3A RFX5 RARA GLIS2 SMARCC2 RCOR1 ATF7 RUNX3

Genomic Location for ARHGEF3 Gene

Chromosome:
3
Start:
56,727,418 bp from pter
End:
57,079,329 bp from pter
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 posLast=249249
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGEF3 Gene

Domains & Families for ARHGEF3 Gene

Gene Families for ARHGEF3 Gene

Protein Domains for ARHGEF3 Gene

Suggested Antigen Peptide Sequences for ARHGEF3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARHGEF3: view

No data available for 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 TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS,IEA --
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

Clone Products

  • Applied Biological Materials Clones for ARHGEF3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytosol 5
nucleus 4
cytoskeleton 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,IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGEF3: view

Pathways & Interactions for ARHGEF3 Gene

genes like me logo Genes that share pathways with ARHGEF3: view

Gene Ontology (GO) - Biological Process for ARHGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction TAS 10873612
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGEF3: view

No data available for SIGNOR curated interactions for ARHGEF3 Gene

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

Unigene Clusters for ARHGEF3 Gene

Rho guanine nucleotide exchange factor (GEF) 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARHGEF3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
ARHGEF3

Expression for ARHGEF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ARHGEF3 Gene



Protein tissue co-expression partners for ARHGEF3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF3 Gene:

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(4.8)
genes like me logo Genes that share expression patterns with ARHGEF3: view

Primer Products

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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia ARHGEF3 33 34
  • 91.51 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef3 33
  • 88.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Arhgef3 33 16 34
  • 85.82 (n)
dog
(Canis familiaris)
Mammalia ARHGEF3 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF3 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF3 33 34
  • 79.07 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGEF3 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef3 33
  • 74.27 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgef3 33 34
  • 70.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 34
  • 8 (a)
ManyToMany
ROM2 34
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for ARHGEF3 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)
  • 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 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)

Paralogs for ARHGEF3 Gene

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

genes like me logo Genes that share paralogs with ARHGEF3: view

Variants for ARHGEF3 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000007613 -- 56,899,385(+) AGAGA(A/G)ATGCT intron-variant
rs1000017976 -- 56,904,645(+) ATACA(C/T)CTGCT intron-variant
rs1000024288 -- 56,900,551(+) ACTGA(A/G)CCACG intron-variant
rs1000036886 -- 56,944,574(+) TTTTT(-/TTTTC)TTTTT intron-variant
rs1000043341 -- 56,993,033(+) TTTCA(C/G)CATAT intron-variant

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)

Relevant External Links 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

(2) MalaCards diseases for ARHGEF3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4h
  • charcot-marie-tooth disease type 4h
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGEF3

Genetic Association Database (GAD)
ARHGEF3
Human Genome Epidemiology (HuGE) Navigator
ARHGEF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF3
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 22 60
  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 60
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 45 60
  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 45 60
  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 45 60

Products for ARHGEF3 Gene

Sources for ARHGEF3 Gene

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