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Aliases for ARHGEF18 Gene

Aliases for ARHGEF18 Gene

  • Rho/Rac Guanine Nucleotide Exchange Factor 18 2 3 5
  • Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 18 2 2 3
  • 114 KDa Rho-Specific Guanine Nucleotide Exchange Factor 3 4
  • Rho-Specific Guanine Nucleotide Exchange Factor P114 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
  • KIAA0521 4
  • 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. Diseases associated with ARHGEF18 include Retinitis Pigmentosa 78 and Retinitis Pigmentosa. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (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).

Additional gene information for ARHGEF18 Gene

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

GeneHancer (GH) Regulatory Elements for ARHGEF18 Gene

Promoters and enhancers for ARHGEF18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007344 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 652.4 -1.0 -1012 7 HDGF PKNOX1 FOXA2 ARID4B YBX1 ZNF143 ATF7 RUNX3 SP5 REST ARHGEF18 ENSG00000263264 ELAVL1 ZNF557 XAB2 KHSRP MAP2K7 FCER2 GC19P007345
GH19J007394 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.2 +46.7 46655 2.8 PKNOX1 ARID4B SIN3A ZNF48 ETS1 ZNF121 POLR2B GLIS2 E2F8 ELK1 ENSG00000267852 ARHGEF18 INSR TEX45 PEX11G NDUFA7 ENSG00000268861 GC19P007434
GH19J007441 Promoter 0.5 EPDnew 662.1 +92.8 92776 0.1 ARHGEF18 GC19P007442 TEX45 PEX11G GC19M007438 ENSG00000268861
GH19J007452 Promoter 0.5 EPDnew 650.1 +102.4 102360 0.1 ARHGEF18 GC19M007445 PIR39674 GC19P007466 ENSG00000268861
GH19J006587 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -761.1 -761144 1.5 HDGF PKNOX1 SMAD1 ARNT SIN3A YBX1 ZNF48 ZNF143 ZNF207 ATF7 DUS3L ZNF557 VMAC DENND1C LOC390877 FLJ25758 MBD3L5 MBD3L3 ACSBG2 ARHGEF18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGEF18 gene promoter:
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • AP-2gamma
  • ER-alpha
  • E4BP4
  • SEF-1 (1)
  • ZID
  • Evi-1
  • NRSF form 2

Genomic Locations for ARHGEF18 Gene

Genomic Locations for ARHGEF18 Gene
chr19:7,348,911-7,476,990
(GRCh38/hg38)
Size:
128,080 bases
Orientation:
Plus strand
chr19:7,459,999-7,537,371
(GRCh37/hg19)
Size:
77,373 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

Post-translational modifications for ARHGEF18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGEF18 Gene

Domains & Families for ARHGEF18 Gene

Gene 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).

Phenotypes From GWAS Catalog 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 TAS,IEA --
genes like me logo Genes that share ontologies with ARHGEF18: view
genes like me logo Genes that share phenotypes with ARHGEF18: view

Human Phenotype Ontology for ARHGEF18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ARHGEF18

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGEF18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA --
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:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction IDA,IEA 14512443
GO:0008360 regulation of cell shape IDA 14512443
GO:0030036 actin cytoskeleton organization IDA 14512443
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:

Clone 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

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 -- 34
  • 99 (a)
OneToMany
ARHGEF18 33
  • 98.85 (n)
dog
(Canis familiaris)
Mammalia ARHGEF18 33
  • 83.56 (n)
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARHGEF18 33
  • 82.44 (n)
-- 34
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arhgef18 33
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Arhgef18 16 34 33
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARHGEF18 33
  • 65.27 (n)
-- 34
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef18 33
  • 61.12 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgef18b 34 33
  • 60.73 (n)
ManyToMany
arhgef18a 34
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10188 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF18: view image

Paralogs for ARHGEF18 Gene

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

  • ARHGI_HUMAN
  • M0QZS0_HUMAN
  • M0R125_HUMAN
  • M0R150_HUMAN
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 Variation AA Info Type
rs1064793000 pathogenic, Retinitis pigmentosa 78 7,462,259(+) C/T coding_sequence_variant, stop_gained
rs1064793002 pathogenic, Retinitis pigmentosa 78 7,456,408(+) G/A intron_variant
rs767689418 pathogenic, Retinitis pigmentosa 78 7,467,400(+) G/C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained
rs987233144 pathogenic, Retinitis pigmentosa 78, Retinitis pigmentosa 78 (RP78) [MIM:617433] 7,444,215(+) A/G coding_sequence_variant, missense_variant
rs142818148 uncertain-significance, not provided 7,453,584(+) C/A/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for ARHGEF18 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 78
  • rp78
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARHGI_HUMAN
  • Retinitis pigmentosa 78 (RP78) [MIM:617433]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive. {ECO:0000269 PubMed:28132693}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARHGEF18

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

No data available for 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 (Circulation research 2003) 3 4 22 58
  2. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. (PMID: 11318610) Acierno JS … Slaugenhaupt SA (Genomics 2001) 2 3 4 58
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. (PMID: 28132693) Arno G … Webster AR (American journal of human genetics 2017) 3 4 58
  5. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H … Tanoue T (The Journal of cell biology 2011) 3 4 58

Products for ARHGEF18 Gene

Sources for ARHGEF18 Gene

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