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Aliases for ARHGEF5 Gene

Aliases for ARHGEF5 Gene

  • Rho Guanine Nucleotide Exchange Factor 5 2 3 5
  • Transforming Immortalized Mammary Oncogene 2 3 4
  • Guanine Nucleotide Regulatory Protein TIM 2 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 5 2 3
  • Oncogene TIM 3 4
  • Ephexin-3 3 4
  • P60 TIM 3 4
  • TIM 3 4
  • GEF5 3
  • TIM1 3
  • P60 3

External Ids for ARHGEF5 Gene

Previous GeneCards Identifiers for ARHGEF5 Gene

  • GC07P142309
  • GC07P143376
  • GC07P143454
  • GC07P143453
  • GC07P143428
  • GC07P143500
  • GC07P143683
  • GC07P144052
  • GC07P138140

Summaries for ARHGEF5 Gene

Entrez Gene Summary for ARHGEF5 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGEF5 Gene

ARHGEF5 (Rho Guanine Nucleotide Exchange Factor 5) is a Protein Coding gene. Among its related pathways are Regulation of RhoA activity and CREB Pathway. GO annotations related to this gene include GTP binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF19.

UniProtKB/Swiss-Prot for ARHGEF5 Gene

  • Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity).

Gene Wiki entry for ARHGEF5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF5 Gene

Genomics for ARHGEF5 Gene

Regulatory Elements for ARHGEF5 Gene

Enhancers for ARHGEF5 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around ARHGEF5 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ARHGEF5 Gene

Chromosome:
7
Start:
144,355,288 bp from pter
End:
144,380,632 bp from pter
Size:
25,345 bases
Orientation:
Plus strand

Genomic View for ARHGEF5 Gene

Genes around ARHGEF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF5 Gene

Proteins for ARHGEF5 Gene

  • Protein details for ARHGEF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12774-ARHG5_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 5
    Protein Accession:
    Q12774
    Secondary Accessions:
    • A6NNJ2
    • Q6ZML7

    Protein attributes for ARHGEF5 Gene

    Size:
    1597 amino acids
    Molecular mass:
    176799 Da
    Quaternary structure:
    • Interacts with SRC (By similarity). Forms a ternary complex with SRC and the PI3K 85 kDa subunit (By similarity). Interacts with and is activated by the heterodimer formed by GNB1 and GNG2 (By similarity). Interacts with ODAM (via C-terminus) (PubMed:25911094). Interacts with RHOA (By similarity).
    SequenceCaution:
    • Sequence=BAD18708.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF5 Gene

Post-translational modifications for ARHGEF5 Gene

  • Activation of SRC induces tyrosine phosphorylation of ARHGEF5.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGEF5 Gene

No data available for DME Specific Peptides for ARHGEF5 Gene

Domains & Families for ARHGEF5 Gene

Gene Families for ARHGEF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q12774

UniProtKB/Swiss-Prot:

ARHG5_HUMAN :
  • The PH domain binds to phosphoinositides and is essential for podosome formation.
Domain:
  • The PH domain binds to phosphoinositides and is essential for podosome formation.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGEF5: view

Function for ARHGEF5 Gene

Molecular function for ARHGEF5 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity).

Gene Ontology (GO) - Molecular Function for ARHGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 15601624
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 21988832
GO:0005525 GTP binding TAS 8134109
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ARHGEF5: view
genes like me logo Genes that share phenotypes with ARHGEF5: view

Animal Models for ARHGEF5 Gene

MGI Knock Outs for ARHGEF5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF5 Gene

Localization for ARHGEF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF5 Gene

Cytoplasm. Nucleus. Cell projection, podosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF5 Gene COMPARTMENTS Subcellular localization image for ARHGEF5 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ARHGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005634 nucleus IDA 14662653
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 14662653
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARHGEF5: view

Pathways & Interactions for ARHGEF5 Gene

genes like me logo Genes that share pathways with ARHGEF5: view

Pathways by source for ARHGEF5 Gene

Gene Ontology (GO) - Biological Process for ARHGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002408 myeloid dendritic cell chemotaxis IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0032956 regulation of actin cytoskeleton organization IMP 14662653
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with ARHGEF5: view

No data available for SIGNOR curated interactions for ARHGEF5 Gene

Drugs & Compounds for ARHGEF5 Gene

No Compound Related Data Available

Transcripts for ARHGEF5 Gene

Unigene Clusters for ARHGEF5 Gene

Rho guanine nucleotide exchange factor (GEF) 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a ·
SP1: - -
SP2: - -
SP3:
SP4: - - - -
SP5: -
SP6:
SP7:
SP8:
SP9: - - - - - - - - -
SP10:
SP11: -

ExUns: 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ARHGEF5 Gene

GeneLoc Exon Structure for
ARHGEF5
ECgene alternative splicing isoforms for
ARHGEF5

Expression for ARHGEF5 Gene

mRNA expression in normal human tissues for ARHGEF5 Gene

mRNA differential expression in normal tissues according to GTEx for ARHGEF5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.0), Skin - Not Sun Exposed (Suprapubic) (x5.1), and Esophagus - Mucosa (x4.2).

Protein differential expression in normal tissues from HIPED for ARHGEF5 Gene

This gene is overexpressed in Breast (30.6) and Placenta (23.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARHGEF5 Gene



Protein tissue co-expression partners for ARHGEF5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF5 Gene:

ARHGEF5

SOURCE GeneReport for Unigene cluster for ARHGEF5 Gene:

Hs.334

mRNA Expression by UniProt/SwissProt for ARHGEF5 Gene:

Q12774-ARHG5_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in placenta. High levels are also found in colon, kidney, trachea, prostate, liver, pancreas, pituitary gland, thyroid gland and mammary gland. In fetal tissues, expressed at high levels in kidney, lung and liver (PubMed:15601624). Expressed at low levels in lung and heart (PubMed:14662653).
genes like me logo Genes that share expression patterns with ARHGEF5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ARHGEF5 Gene

Orthologs for ARHGEF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARHGEF5 34
  • 75.88 (n)
  • 66.56 (a)
ARHGEF5 35
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF5 34
  • 78.33 (n)
  • 69.71 (a)
ARHGEF5 35
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef5 34
  • 74.91 (n)
  • 66.69 (a)
Arhgef5 16
Arhgef5 35
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF5 34
  • 99.31 (n)
  • 99 (a)
ARHGEF5 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef5 34
  • 74.56 (n)
  • 65.91 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF5 35
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF5 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF5 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF5 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3231 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32005 34
zebrafish
(Danio rerio)
Actinopterygii ARHGEF5 35
  • 24 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH03693 36
  • 32 (a)
Exn 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K07D4.7a 36
  • 34 (a)
K07D4.7b 36
  • 34 (a)
ephx-1 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for ARHGEF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)

Evolution for ARHGEF5 Gene

ENSEMBL:
Gene Tree for ARHGEF5 (if available)
TreeFam:
Gene Tree for ARHGEF5 (if available)

Paralogs for ARHGEF5 Gene

Paralogs for ARHGEF5 Gene

(7) SIMAP similar genes for ARHGEF5 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ARHGEF5 Gene

genes like me logo Genes that share paralogs with ARHGEF5: view

Variants for ARHGEF5 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2266927 -- 144,373,880(+) CTGTC(A/G)CCCCA intron-variant
rs2464057 -- 144,369,577(-) GAAGC(A/C)GGATA intron-variant
rs7806384 -- 144,380,078(+) GTTTC(A/G/T)TGAGC utr-variant-3-prime
rs2525699 -- 144,360,148(+) ctgga(A/G)agcag intron-variant
rs2525700 -- 144,360,236(+) ctccc(A/G)agtag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF5 Gene

Variant ID Type Subtype PubMed ID
dgv11668n54 CNV gain 21841781
dgv11669n54 CNV loss 21841781
dgv11685n54 CNV loss 21841781
dgv11686n54 CNV loss 21841781
dgv152e203 CNV gain+loss 21179565
dgv24n31 CNV gain 19718026
dgv253n111 CNV duplication 26073780
dgv255n111 CNV deletion 26073780
dgv3687n106 CNV duplication 24896259
dgv3980e59 CNV duplication 20981092
dgv3981e59 CNV duplication 20981092
dgv3982e59 CNV duplication 20981092
dgv6726n100 CNV gain 25217958
dgv6727n100 CNV loss 25217958
dgv6728n100 CNV gain+loss 25217958
dgv6734n100 CNV gain+loss 25217958
dgv6735n100 CNV gain 25217958
dgv6740n100 CNV loss 25217958
dgv6743n100 CNV gain+loss 25217958
dgv6744n100 CNV loss 25217958
dgv6745n100 CNV loss 25217958
esv24292 CNV gain+loss 19812545
esv2759570 CNV gain+loss 17122850
esv3350828 CNV duplication 20981092
esv3367970 CNV duplication 20981092
esv3418468 CNV duplication 20981092
esv3432947 CNV duplication 20981092
esv3584873 CNV loss 24956385
esv3891225 CNV gain 25118596
nsv1016831 CNV gain 25217958
nsv1077501 CNV duplication 25765185
nsv1128962 CNV duplication 24896259
nsv1141560 CNV duplication 24896259
nsv1148198 CNV duplication 26484159
nsv1150071 CNV duplication 26484159
nsv428188 CNV gain+loss 18775914
nsv469769 CNV gain+loss 16826518
nsv471456 CNV gain 19718026
nsv471646 CNV gain+loss 15918152
nsv482117 CNV gain 20164927
nsv515042 CNV gain 21397061
nsv608699 CNV gain 21841781
nsv608885 CNV loss 21841781
nsv7411 OTHER inversion 18451855
nsv819701 CNV insertion 19587683
nsv821609 CNV duplication 20802225
nsv8227 CNV gain+loss 18304495
nsv824360 CNV gain 20364138
nsv831175 CNV loss 17160897
nsv831177 CNV loss 17160897
nsv981602 CNV duplication 23825009

Variation tolerance for ARHGEF5 Gene

Gene Damage Index Score: 1.99; 36.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF5 Gene

Disorders for ARHGEF5 Gene

Relevant External Links for ARHGEF5

Genetic Association Database (GAD)
ARHGEF5
Human Genome Epidemiology (HuGE) Navigator
ARHGEF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF5

No disorders were found for ARHGEF5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF5 Gene

Publications for ARHGEF5 Gene

  1. Expression cDNA cloning of a novel oncogene with sequence similarity to regulators of small GTP-binding proteins. (PMID: 8134109) Chan A.M.-L. … Miki T. (Oncogene 1994) 2 3 4 22 65
  2. Odontogenic Ameloblast-associated Protein (ODAM) Mediates Junctional Epithelium Attachment to Teeth via Integrin-ODAM-Rho Guanine Nucleotide Exchange Factor 5 (ARHGEF5)-RhoA Signaling. (PMID: 25911094) Lee H.K. … Park J.C. (J. Biol. Chem. 2015) 3 4 65
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  4. TIM, a Dbl-related protein, regulates cell shape and cytoskeletal organization in a Rho-dependent manner. (PMID: 15601624) Xie X. … Miki T. (Cell. Signal. 2005) 3 4 65
  5. Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer. (PMID: 14662653) Debily M.A. … Piatier-Tonneau D. (Hum. Mol. Genet. 2004) 3 4 65

Products for ARHGEF5 Gene

Sources for ARHGEF5 Gene

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