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Aliases for ARHGEF3 Gene

Aliases for ARHGEF3 Gene

  • Rho Guanine Nucleotide Exchange Factor 3 2 3 5
  • XPLN 2 3 4
  • Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues 2 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 3 2 3
  • RhoGEF Protein 2 3
  • Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues, XPLN 3
  • 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 osteoporosis. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. 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

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

Genomics for ARHGEF3 Gene

Regulatory Elements for ARHGEF3 Gene

Promoters for ARHGEF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF3 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ARHGEF3 Gene at MOPED

Post-translational modifications for ARHGEF3 Gene

  • Ubiquitination at Lys 249
  • 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

Q9NR81

UniProtKB/Swiss-Prot:

ARHG3_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with ARHGEF3: view

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.
genes like me logo Genes that share phenotypes with ARHGEF3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for ARHGEF3 Gene COMPARTMENTS Subcellular localization image for ARHGEF3 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for ARHGEF3 Gene

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:0007264 small GTPase mediated signal transduction TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0048011 neurotrophin TRK receptor signaling pathway TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
GO:0097190 apoptotic signaling pathway TAS --
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:

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 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, MOPED, and MaxQB for ARHGEF3 Gene



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.
genes like me logo Genes that share expression patterns with ARHGEF3: view

Protein tissue co-expression partners for ARHGEF3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ARHGEF3 35
  • 91.51 (n)
  • 96.77 (a)
ARHGEF3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef3 35
  • 85.82 (n)
  • 92.07 (a)
Arhgef3 16
Arhgef3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF3 35
  • 99.62 (n)
  • 100 (a)
ARHGEF3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef3 35
  • 88.15 (n)
  • 94.07 (a)
dog
(Canis familiaris)
Mammalia ARHGEF3 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF3 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARHGEF3 35
  • 79.07 (n)
  • 87.4 (a)
ARHGEF3 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF3 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef3 35
  • 74.27 (n)
  • 81.99 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef3 35
  • 70.89 (n)
  • 79 (a)
arhgef3 36
  • 72 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 36
  • 8 (a)
ManyToMany
ROM2 36
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for ARHGEF3:
  • 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

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
rs3732507 - 56,801,761(-) GGTCA(A/G)GAGAG intron-variant, reference, missense
rs3772219 - 56,737,223(-) GAGTC(A/C/G/T)TGTGT reference, missense
rs808 -- 56,727,622(+) CACCA(A/G)TAAAG utr-variant-3-prime
rs6978 -- 56,727,687(-) CAAGT(C/T)GTTAT utr-variant-3-prime
rs902226 -- 56,778,131(+) GAAAC(C/T)CTAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv507095 CNV Insertion 20534489
nsv512803 CNV Insertion 21212237
esv1591931 CNV Insertion 17803354
esv2670903 CNV Deletion 23128226
nsv876818 CNV Gain 21882294
nsv523538 CNV Loss 19592680
esv2666798 CNV Deletion 23128226
nsv515842 CNV Loss 19592680
esv272491 CNV Insertion 20981092
nsv509827 CNV Loss 20534489
esv2666251 CNV Deletion 23128226
esv2725308 CNV Deletion 23290073
esv2660634 CNV Deletion 23128226
esv2676065 CNV Deletion 23128226
esv1700976 CNV Insertion 17803354
nsv876819 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
ARHGEF3

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

Disorders for ARHGEF3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
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. Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (PMID: 10873612) Thiesen S. … Nothwang H.G. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 67
  2. XPLN, a guanine nucleotide exchange factor for RhoA and RhoB, but not RhoC. (PMID: 12221096) Arthur W.T. … Wennerberg K. (J. Biol. Chem. 2002) 3 23
  3. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PMID: 24026423) Shameer K. … Kullo I.J. (Hum. Genet. 2014) 3
  4. Influence of ARHGEF3 and RHOA knockdown on ACTA2 and other genes in osteoblasts and osteoclasts. (PMID: 24840563) Mullin B.H. … Wilson S.G. (PLoS ONE 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ARHGEF3 Gene

Sources for ARHGEF3 Gene

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