ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010] See more...

Aliases for ARHGAP18 Gene

Aliases for ARHGAP18 Gene

  • Rho GTPase Activating Protein 18 2 3 5
  • Rho-Type GTPase-Activating Protein 18 3 4
  • Rho GTPase-Activating Protein 18 3 4
  • MacGAP 3 4
  • BA307O14.2 3
  • SENEX 3

External Ids for ARHGAP18 Gene

Previous GeneCards Identifiers for ARHGAP18 Gene

  • GC06M129832
  • GC06M129878
  • GC06M129939
  • GC06M127478
  • GC06M129897

Summaries for ARHGAP18 Gene

Entrez Gene Summary for ARHGAP18 Gene

  • ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]

GeneCards Summary for ARHGAP18 Gene

ARHGAP18 (Rho GTPase Activating Protein 18) is a Protein Coding gene. Diseases associated with ARHGAP18 include Pthirus Pubis Infestation and Lice Infestation. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP40.

UniProtKB/Swiss-Prot Summary for ARHGAP18 Gene

  • Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595).

Additional gene information for ARHGAP18 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP18 Gene

Genomics for ARHGAP18 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP18 Gene

Promoters and enhancers for ARHGAP18 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
GH06J129707 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 513.4 +1.0 1018 4 SIN3A NRF1 POLR2G NCOR1 GTF2E2 ZIC2 REST POLR2A TCF7 SAP30 ARHGAP18 piR-43104-047
GH06J129767 Promoter/Enhancer 1.6 EPDnew ENCODE CraniofacialAtlas 500.2 -57.2 -57224 0.8 NRF1 MYC USF1 ZIC2 ZBTB26 TRIM28 HES1 RUNX1 CTBP1 EZH2 ARHGAP18 lnc-ARHGAP18-4 RPL5P21 lnc-TMEM244-2 ENSG00000219666
GH06J129859 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 500.1 -150.8 -150771 2.2 ZNF384 EZH2 JUND CTCF SMARCA4 POLR2A SIN3A EBF1 MLLT1 CEBPB TMEM244 ARHGAP18 LOC105377999
GH06J129634 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.6 +65.7 65724 20.6 TCF12 NCOR1 EP300 REST TCF7 RELA MEF2C CUX1 ZBTB25 TGIF2 ARHGAP18 RPL5P21 RF00017-5772 piR-43104-047
GH06J129677 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 18.2 +27.3 27320 11.3 CTCF NRF1 TCF12 POLR2G USF1 SP1 NCOR1 JUND PHB2 FOS ARHGAP18 RPL5P21 L3MBTL3 piR-43104-047 RF00017-5772
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP18

Top Transcription factor binding sites by QIAGEN in the ARHGAP18 gene promoter:
  • Chx10
  • FOXJ2
  • FOXJ2 (long isoform)
  • RORalpha1
  • S8
  • SREBP-1a
  • SREBP-1b
  • SRY
  • TBP

Genomic Locations for ARHGAP18 Gene

Genomic Locations for ARHGAP18 Gene
chr6:129,576,132-129,710,225
(GRCh38/hg38)
Size:
134,094 bases
Orientation:
Minus strand
chr6:129,897,277-130,031,370
(GRCh37/hg19)
Size:
134,094 bases
Orientation:
Minus strand

Genomic View for ARHGAP18 Gene

Genes around ARHGAP18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP18 Gene

Proteins for ARHGAP18 Gene

  • Protein details for ARHGAP18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N392-RHG18_HUMAN
    Recommended name:
    Rho GTPase-activating protein 18
    Protein Accession:
    Q8N392
    Secondary Accessions:
    • E1P575
    • Q58EZ3
    • Q6P679
    • Q6PJD7
    • Q96S64

    Protein attributes for ARHGAP18 Gene

    Size:
    663 amino acids
    Molecular mass:
    74977 Da
    Quaternary structure:
    • Interacts with MPHOSPH6.
    SequenceCaution:
    • Sequence=AAH17223.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH39611.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH62417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB61887.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP18 Gene

Post-translational modifications for ARHGAP18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGAP18 Gene

No data available for DME Specific Peptides for ARHGAP18 Gene

Domains & Families for ARHGAP18 Gene

Gene Families for ARHGAP18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGAP18 Gene

Blocks:
  • RhoGAP domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP18 Gene

GenScript: Design optimal peptide antigens:
  • Rho-type GTPase-activating protein 18 (RHG18_HUMAN)
genes like me logo Genes that share domains with ARHGAP18: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP18 Gene

Function for ARHGAP18 Gene

Molecular function for ARHGAP18 Gene

UniProtKB/Swiss-Prot Function:
Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595).

Phenotypes From GWAS Catalog for ARHGAP18 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP 21865595
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with ARHGAP18: view
genes like me logo Genes that share phenotypes with ARHGAP18: view

Animal Models for ARHGAP18 Gene

MGI Knock Outs for ARHGAP18:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP18 Gene

Localization for ARHGAP18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP18 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 ARHGAP18 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IMP,IBA 21865595
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ARHGAP18: view

Pathways & Interactions for ARHGAP18 Gene

genes like me logo Genes that share pathways with ARHGAP18: view

Pathways by source for ARHGAP18 Gene

3 Reactome pathways for ARHGAP18 Gene

Gene Ontology (GO) - Biological Process for ARHGAP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IMP 21865595
GO:0008360 regulation of cell shape IMP 21865595
GO:0030833 regulation of actin filament polymerization IBA,IMP 21865595
GO:0032956 regulation of actin cytoskeleton organization IMP,IBA 21865595
genes like me logo Genes that share ontologies with ARHGAP18: view

No data available for SIGNOR curated interactions for ARHGAP18 Gene

Drugs & Compounds for ARHGAP18 Gene

No Compound Related Data Available

Transcripts for ARHGAP18 Gene

mRNA/cDNA for ARHGAP18 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP18 Gene

No ASD Table

Relevant External Links for ARHGAP18 Gene

GeneLoc Exon Structure for
ARHGAP18

Expression for ARHGAP18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP18 Gene

mRNA differential expression in normal tissues according to GTEx for ARHGAP18 Gene

This gene is overexpressed in Adrenal Gland (x4.4).

Protein differential expression in normal tissues from HIPED for ARHGAP18 Gene

This gene is overexpressed in Platelet (22.4), Peripheral blood mononuclear cells (16.4), Milk (6.8), and Nasal epithelium (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP18 Gene



Protein tissue co-expression partners for ARHGAP18 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP18

SOURCE GeneReport for Unigene cluster for ARHGAP18 Gene:

Hs.486458

Evidence on tissue expression from TISSUES for ARHGAP18 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with ARHGAP18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP18 Gene

Orthologs for ARHGAP18 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP18 31 30
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP18 31 30
  • 89.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGAP18 31 30
  • 88.8 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arhgap18 30
  • 84.94 (n)
mouse
(Mus musculus)
Mammalia Arhgap18 17 31 30
  • 84.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP18 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP18 31 30
  • 74.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP18 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734415 30
  • 66.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18124 30
zebrafish
(Danio rerio)
Actinopterygii LOC100004252 30
  • 60.11 (n)
ARHGAP18 31
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17082 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for ARHGAP18 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)
  • worm (Caenorhabditis elegans)

Evolution for ARHGAP18 Gene

ENSEMBL:
Gene Tree for ARHGAP18 (if available)
TreeFam:
Gene Tree for ARHGAP18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP18: view image

Paralogs for ARHGAP18 Gene

Paralogs for ARHGAP18 Gene

(4) SIMAP similar genes for ARHGAP18 Gene using alignment to 1 proteins:

  • RHG18_HUMAN
genes like me logo Genes that share paralogs with ARHGAP18: view

Variants for ARHGAP18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP18 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
783473 Benign: not provided 129,710,043(-) C/T MISSENSE_VARIANT
rs11544371 - p.Asn91Ser
rs11544372 - p.Gln165His
rs3752536 - p.Thr23Ala

Additional dbSNP identifiers (rs#s) for ARHGAP18 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP18 Gene

Variant ID Type Subtype PubMed ID
esv1498345 CNV deletion 17803354
esv1575536 CNV deletion 17803354
esv1584644 CNV deletion 17803354
esv2639935 CNV insertion 19546169
esv2659313 CNV deletion 23128226
esv2732697 CNV deletion 23290073
esv3328429 CNV duplication 20981092
esv3610773 CNV loss 21293372
esv3610774 CNV loss 21293372
esv3610775 CNV gain 21293372
nsv1073587 CNV deletion 25765185
nsv1074014 CNV deletion 25765185
nsv1122137 CNV deletion 24896259
nsv1137149 CNV deletion 24896259
nsv1140694 CNV deletion 24896259
nsv522152 CNV gain 19592680
nsv524782 CNV loss 19592680
nsv604663 CNV gain 21841781
nsv830805 CNV gain 17160897
nsv950507 CNV duplication 24416366

Variation tolerance for ARHGAP18 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP18 Gene

Disorders for ARHGAP18 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ARHGAP18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pthirus pubis infestation
  • crabs
lice infestation
  • infestation by pediculus
parasitic ectoparasitic infectious disease
  • ectoparasitism
penicilliosis
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP18 Gene

Publications for ARHGAP18 Gene

  1. ARHGAP18, a GTPase-activating protein for RhoA, controls cell shape, spreading, and motility. (PMID: 21865595) Maeda M … Senga T (Molecular biology of the cell 2011) 3 4 54
  2. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 41 54
  3. Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia. (PMID: 19065146) Potkin SG … Macciardi F (Molecular psychiatry 2009) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B … Sanderson CM (Genome research 2004) 3 4 54

Products for ARHGAP18 Gene

Sources for ARHGAP18 Gene