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Aliases for ARHGEF18 Gene

Aliases for ARHGEF18 Gene

  • Rho/Rac Guanine Nucleotide Exchange Factor 18 2 3 5
  • 114 KDa Rho-Specific Guanine Nucleotide Exchange Factor 3 4
  • Rho-Specific Guanine Nucleotide Exchange Factor P114 2 3
  • Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 18 2 3
  • Septin-Associated RhoGEF 3 4
  • P114RhoGEF 3 4
  • SA-RhoGEF 3 4
  • Rho Guanine Nucleotide Exchange Factor 18 3
  • P114-Rho-GEF 4
  • P114-RhoGEF 3
  • EC 3.4.24 61
  • KIAA0521 4
  • EC 3.6.1 61
  • RP78 3

External Ids for ARHGEF18 Gene

Previous GeneCards Identifiers for ARHGEF18 Gene

  • GC19P007366
  • GC19P007459
  • GC19P007128

Summaries for ARHGEF18 Gene

Entrez Gene Summary for ARHGEF18 Gene

  • Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for ARHGEF18 Gene

ARHGEF18 (Rho/Rac Guanine Nucleotide Exchange Factor 18) is a Protein Coding gene. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and p75 NTR receptor-mediated signalling. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268861.

UniProtKB/Swiss-Prot for ARHGEF18 Gene

  • Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF18 Gene

Genomics for ARHGEF18 Gene

Regulatory Elements for ARHGEF18 Gene

Enhancers for ARHGEF18 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
GH19G007196 2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -150.2 -150219 5.0 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 GLIS1 ELAVL1 XAB2 ZNF557 ARHGEF18 GTF2F1 PSPN INSR RETN CAMSAP3 GC19P007214
GH19G007177 1.5 Ensembl ENCODE dbSUPER 11.1 -167.8 -167837 7.1 HDGF PKNOX1 SIN3A FEZF1 ZNF121 ZNF302 CBX5 ZNF143 ZNF207 ZNF202 ELAVL1 XAB2 ZNF557 ARHGEF18 EVI5L INSR GC19P007214 GC19P007151
GH19G007205 1.5 Ensembl ENCODE dbSUPER 11 -137.7 -137720 10.5 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 ZNF207 KLF7 ARHGEF18 INSR SH2D3A ADGRE1 TRIP10 GC19P007214 GC19P007151
GH19G007424 0.9 ENCODE 18.1 +77.1 77117 3.3 ELF3 ATF1 CREB3L1 SREBF2 RARA ZNF121 FOS CREM EGR2 SP3 ARHGEF18 TEX45 PEX11G CAMSAP3 GC19P007434 ENSG00000267852
GH19G007158 1.4 Ensembl ENCODE dbSUPER 11.3 -189.4 -189375 2.2 PKNOX1 ATF1 ZNF76 INSM2 KLF17 ZNF121 ZNF366 ZNF263 SP3 ZNF362 ARHGEF18 PCP2 GC19P007151 GC19P007214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGEF18 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106648 789 201 NR2F1 CHD4

Genomic Location for ARHGEF18 Gene

Chromosome:
19
Start:
7,348,911 bp from pter
End:
7,476,990 bp from pter
Size:
128,080 bases
Orientation:
Plus strand

Genomic View for ARHGEF18 Gene

Genes around ARHGEF18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF18 Gene

Proteins for ARHGEF18 Gene

  • Protein details for ARHGEF18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSZ5-ARHGI_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 18
    Protein Accession:
    Q6ZSZ5
    Secondary Accessions:
    • A8MV62
    • B5ME81
    • O60274
    • Q6DD92

    Protein attributes for ARHGEF18 Gene

    Size:
    1173 amino acids
    Molecular mass:
    130780 Da
    Quaternary structure:
    • Interacts with SEPT9 (PubMed:15558029); interaction may inhibit GEF activity. Interacts with Gbetagamma subunits GNB1 and GNG2 (PubMed:14512443). Interacts with EPB41L4B (PubMed:22006950). Interacts with PATJ (via C-terminus) (PubMed:22006950).
    SequenceCaution:
    • Sequence=AAH77721.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAA25447.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF18 Gene

Selected DME Specific Peptides for ARHGEF18 Gene

Q6ZSZ5:
  • VLVERII
  • SKLKNGLT

Post-translational modifications for ARHGEF18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ARHGEF18 Gene

Protein Domains for ARHGEF18 Gene

Suggested Antigen Peptide Sequences for ARHGEF18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARHGEF18: view

No data available for UniProtKB/Swiss-Prot for ARHGEF18 Gene

Function for ARHGEF18 Gene

Molecular function for ARHGEF18 Gene

UniProtKB/Swiss-Prot Function:
Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950).

Enzyme Numbers (IUBMB) for ARHGEF18 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF18 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 IEA,TAS --
genes like me logo Genes that share ontologies with ARHGEF18: view
genes like me logo Genes that share phenotypes with ARHGEF18: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ARHGEF18

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF18 Gene

Localization for ARHGEF18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF18 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Apical cell membrane.

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 ARHGEF18 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ARHGEF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARHGEF18: view

Pathways & Interactions for ARHGEF18 Gene

genes like me logo Genes that share pathways with ARHGEF18: view

Pathways by source for ARHGEF18 Gene

SIGNOR curated interactions for ARHGEF18 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ARHGEF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction IDA 14512443
GO:0008360 regulation of cell shape IDA 14512443
GO:0030036 actin cytoskeleton organization IDA 14512443
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with ARHGEF18: view

Drugs & Compounds for ARHGEF18 Gene

(3) Drugs for ARHGEF18 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 ARHGEF18: view

Transcripts for ARHGEF18 Gene

Unigene Clusters for ARHGEF18 Gene

Rho/Rac guanine nucleotide exchange factor (GEF) 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF18 Gene

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

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b
SP1: - - -
SP2: -
SP3: - - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ARHGEF18 Gene

GeneLoc Exon Structure for
ARHGEF18
ECgene alternative splicing isoforms for
ARHGEF18

Expression for ARHGEF18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGEF18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF18 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.6), CD8 Tcells (9.9), and Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF18 Gene



Protein tissue co-expression partners for ARHGEF18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF18 Gene:

ARHGEF18

SOURCE GeneReport for Unigene cluster for ARHGEF18 Gene:

Hs.465761

mRNA Expression by UniProt/SwissProt for ARHGEF18 Gene:

Q6ZSZ5-ARHGI_HUMAN
Tissue specificity: Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis.

Evidence on tissue expression from TISSUES for ARHGEF18 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ARHGEF18: 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 ARHGEF18 Gene

Orthologs for ARHGEF18 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 99 (a)
OneToMany
ARHGEF18 34
  • 98.85 (n)
dog
(Canis familiaris)
Mammalia ARHGEF18 34
  • 83.56 (n)
-- 35
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARHGEF18 34
  • 82.44 (n)
-- 35
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arhgef18 34
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Arhgef18 34 16 35
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARHGEF18 34
  • 65.27 (n)
-- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef18 34
  • 61.12 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgef18b 34 35
  • 60.73 (n)
arhgef18a 35
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10188 35
  • 19 (a)
OneToMany
Species where no ortholog for ARHGEF18 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 ARHGEF18 Gene

ENSEMBL:
Gene Tree for ARHGEF18 (if available)
TreeFam:
Gene Tree for ARHGEF18 (if available)

Paralogs for ARHGEF18 Gene

(4) SIMAP similar genes for ARHGEF18 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ARHGEF18: view

Variants for ARHGEF18 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF18 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs142818148 Uncertain significance 7,453,584(+) GATCG(A/C/T)AGGGA reference, missense
rs1000006809 -- 7,350,316(+) GCTAG(A/G)AAGTG intron-variant
rs1000027477 -- 7,423,301(+) TTCTC(A/G)GATTC intron-variant
rs1000072425 -- 7,412,227(+) GGTCA(A/G)GCTGG intron-variant
rs1000074795 -- 7,361,994(+) GTGGA(A/G)GAAGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF18 Gene

Variant ID Type Subtype PubMed ID
dgv500e201 CNV deletion 23290073
esv22545 CNV loss 19812545
esv2659522 CNV deletion 23128226
esv2718091 CNV deletion 23290073
esv2718093 CNV deletion 23290073
esv2751809 CNV gain 17911159
esv2762023 CNV loss 21179565
esv28715 CNV loss 19812545
esv3643584 CNV loss 21293372
esv3821 OTHER complex 18987735
esv6076 CNV loss 19470904
esv9482 CNV gain 19470904
nsv1060887 CNV gain 25217958
nsv509719 CNV insertion 20534489
nsv821186 CNV duplication 20802225

Variation tolerance for ARHGEF18 Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF18 Gene

Human Gene Mutation Database (HGMD)
ARHGEF18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF18 Gene

Disorders for ARHGEF18 Gene

Relevant External Links for ARHGEF18

Human Genome Epidemiology (HuGE) Navigator
ARHGEF18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF18

No disorders were found for ARHGEF18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF18 Gene

Publications for ARHGEF18 Gene

  1. G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production. (PMID: 14512443) Niu J. … Voyno-Yasenetskaya T. (Circ. Res. 2003) 3 4 22 64
  2. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. (PMID: 11318610) Acierno J.S. Jr. … Slaugenhaupt S.A. (Genomics 2001) 2 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  4. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H. … Tanoue T. (J. Cell Biol. 2011) 3 4 64
  5. Identification and characterization of a novel Rho-specific guanine nucleotide exchange factor. (PMID: 11085924) Blomquist A. … Ruemenapp U. (Biochem. J. 2000) 3 4 64

Products for ARHGEF18 Gene

Sources for ARHGEF18 Gene

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