This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple al... See more...

Aliases for ARHGAP6 Gene

Aliases for ARHGAP6 Gene

  • Rho GTPase Activating Protein 6 2 3 5
  • Rho-Type GTPase-Activating Protein RhoGAPX-1 3 4
  • Rho-Type GTPase-Activating Protein 6 3 4
  • Rho GTPase-Activating Protein 6 3 4
  • RHOGAP6 3 4
  • RHOGAPX-1 3
  • RhoGAPX-1 2
  • ARHGAP6 5

External Ids for ARHGAP6 Gene

Previous GeneCards Identifiers for ARHGAP6 Gene

  • GC0XM010134
  • GC0XM009921
  • GC0XM010452
  • GC0XM010517
  • GC0XM010915
  • GC0XM011065
  • GC0XM011155
  • GC0XM008936

Summaries for ARHGAP6 Gene

Entrez Gene Summary for ARHGAP6 Gene

  • This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGAP6 Gene

ARHGAP6 (Rho GTPase Activating Protein 6) is a Protein Coding gene. Diseases associated with ARHGAP6 include Amelogenesis Imperfecta, Type Ie and Amelogenesis Imperfecta. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3/SH2 adaptor activity. An important paralog of this gene is ARHGAP36.

UniProtKB/Swiss-Prot Summary for ARHGAP6 Gene

  • GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP6 Gene

Genomics for ARHGAP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGAP6 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
GH0XJ011425 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 278.4 +239.2 239247 3.7 IKZF1 ZNF592 NONO REST SMAD5 TBP MNT CTCF TAF9B TARDBP ARHGAP6 HSALNG0136647-001 HSALNG0136647-002 HSALNG0136648 AMELX
GH0XJ011664 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 256.7 +1.0 1019 4.2 ZNF341 CTCF BHLHE40 ZBTB8A EZH2 GLIS2 ZBTB6 ZBTB20 ZNF335 ZBTB26 ARHGAP6 lnc-MID1-5 AMELX
GH0XJ011265 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 256.3 +399.7 399687 1.6 NCOR1 IKZF1 ARNT NBN NKRF TRIM25 MYNN HLTF IRF9 MLLT1 ARHGAP6 AMELX HSALNG0136644 HCCS
GH0XJ011398 Promoter 0.5 EPDnew 250.1 +267.6 267640 0.1 HDAC1 ATF7 ARHGAP6 piR-48209-733 HSALNG0136647-001 HSALNG0136647-002 AMELX
GH0XJ011340 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +324.1 324119 3.6 MYC NCOR1 IKZF1 ZNF592 YY1 MBD2 MNT ARNT FOXA2 RXRA ARHGAP6 HCCS MSL3 GOT2P7 HSALNG0136646 AMELX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP6

Top Transcription factor binding sites by QIAGEN in the ARHGAP6 gene promoter:
  • CREB
  • deltaCREB
  • HSF2
  • IRF-7A
  • TBP
  • TFIID

Genomic Locations for ARHGAP6 Gene

Latest Assembly
chrX:11,117,651-11,665,920
(GRCh38/hg38)
Size:
548,270 bases
Orientation:
Minus strand

Previous Assembly
chrX:11,155,664-11,684,040
(GRCh37/hg19 by Entrez Gene)
Size:
528,377 bases
Orientation:
Minus strand

chrX:11,136,239-11,683,821
(GRCh37/hg19 by Ensembl)
Size:
547,583 bases
Orientation:
Minus strand

Genomic View for ARHGAP6 Gene

Genes around ARHGAP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP6 Gene

Proteins for ARHGAP6 Gene

  • Protein details for ARHGAP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43182-RHG06_HUMAN
    Recommended name:
    Rho GTPase-activating protein 6
    Protein Accession:
    O43182
    Secondary Accessions:
    • B2RWQ0
    • O43437
    • Q9P1B3
    • Q9UK81
    • Q9UK82

    Protein attributes for ARHGAP6 Gene

    Size:
    974 amino acids
    Molecular mass:
    105947 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • ARHGAP6 gene undergoes X inactivation.

    Alternative splice isoforms for ARHGAP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP6 Gene

Post-translational modifications for ARHGAP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP6 Gene

Domains & Families for ARHGAP6 Gene

Gene Families for ARHGAP6 Gene

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

Protein Domains for ARHGAP6 Gene

Suggested Antigen Peptide Sequences for ARHGAP6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59725, highly similar to Rho-GTPase-activating protein 6 (B4DN07_HUMAN)
  • cDNA FLJ55566, highly similar to Rho-GTPase-activating protein 6 (B7Z8H7_HUMAN)
  • Rho-type GTPase-activating protein RhoGAPX-1 (RHG06_HUMAN)
genes like me logo Genes that share domains with ARHGAP6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP6 Gene

Function for ARHGAP6 Gene

Molecular function for ARHGAP6 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology.
GENATLAS Biochemistry:
Rho GTPase activating protein 6,aplysia related,involved in signal transduction

Phenotypes From GWAS Catalog for ARHGAP6 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0016004 phospholipase activator activity IBA 21873635
GO:0017124 SH3 domain binding IEA --
GO:0043274 phospholipase binding IBA 21873635
genes like me logo Genes that share ontologies with ARHGAP6: view
genes like me logo Genes that share phenotypes with ARHGAP6: view

Animal Models for ARHGAP6 Gene

MGI Knock Outs for ARHGAP6:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP6

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP6 Gene

Localization for ARHGAP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP6 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 ARHGAP6 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IMP 10699171
GO:0005829 cytosol TAS --
GO:0005884 actin filament NAS 10699171
GO:0015629 actin cytoskeleton ISS 10699171
genes like me logo Genes that share ontologies with ARHGAP6: view

Pathways & Interactions for ARHGAP6 Gene

genes like me logo Genes that share pathways with ARHGAP6: view

Pathways by source for ARHGAP6 Gene

1 BioSystems pathway for ARHGAP6 Gene
3 Reactome pathways for ARHGAP6 Gene

SIGNOR curated interactions for ARHGAP6 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ARHGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0007165 signal transduction IEA --
GO:0007202 activation of phospholipase C activity IBA 21873635
GO:0007266 Rho protein signal transduction TAS,NAS 10699171
GO:0010518 positive regulation of phospholipase activity IDA --
genes like me logo Genes that share ontologies with ARHGAP6: view

Drugs & Compounds for ARHGAP6 Gene

(1) Drugs for ARHGAP6 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
HJC 0350 Pharma 0

(1) ApexBio Compounds for ARHGAP6 Gene

Compound Action Cas Number
HJC 0350 885434-70-8
genes like me logo Genes that share compounds with ARHGAP6: view

Drug products for research

Transcripts for ARHGAP6 Gene

mRNA/cDNA for ARHGAP6 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP6

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6:

Relevant External Links for ARHGAP6 Gene

GeneLoc Exon Structure for
ARHGAP6

Expression for ARHGAP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.3) and Platelet (30.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP6 Gene



Protein tissue co-expression partners for ARHGAP6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP6

SOURCE GeneReport for Unigene cluster for ARHGAP6 Gene:

Hs.435291

mRNA Expression by UniProt/SwissProt for ARHGAP6 Gene:

O43182-RHG06_HUMAN
Tissue specificity: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.

Evidence on tissue expression from TISSUES for ARHGAP6 Gene

  • Blood(4.5)
genes like me logo Genes that share expression patterns with ARHGAP6: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP6 Gene

Orthologs for ARHGAP6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGAP6 29 30
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGAP6 29 30
  • 86.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGAP6 29 30
  • 86.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgap6 29 16 30
  • 84.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgap6 29
  • 84.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP6 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGAP6 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGAP6 29 30
  • 71.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGAP6 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgap6 29
  • 66.97 (n)
Str.14575 29
Zebrafish
(Danio rerio)
Actinopterygii LOC101882360 29
  • 59.84 (n)
ARHGAP6 30
  • 56 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGAP102A 30 31
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rga-6 30
  • 20 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LRG1 30
  • 14 (a)
OneToMany
SAC7 32
Species where no ortholog for ARHGAP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)

Evolution for ARHGAP6 Gene

ENSEMBL:
Gene Tree for ARHGAP6 (if available)
TreeFam:
Gene Tree for ARHGAP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP6: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGAP6

Paralogs for ARHGAP6 Gene

Paralogs for ARHGAP6 Gene

(4) SIMAP similar genes for ARHGAP6 Gene using alignment to 4 proteins:

  • RHG06_HUMAN
  • B4DN07_HUMAN
  • B7Z8H7_HUMAN
  • H7BYE6_HUMAN
genes like me logo Genes that share paralogs with ARHGAP6: view

Variants for ARHGAP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP6 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
982928 Likely Benign: Neurodevelopmental disorder 11,169,549(-) C/T
NM_013427.3(ARHGAP6):c.1765G>A (p.Ala589Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs104894733 Pathogenic: Amelogenesis imperfecta, type 1E 11,298,243(-) C/T
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)
MISSENSE_VARIANT,INTRON
rs104894734 Pathogenic: Amelogenesis imperfecta, type 1E 11,298,932(-) G/T
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)
NONSENSE,INTRON
rs104894736 Pathogenic: Amelogenesis imperfecta, type 1E 11,298,569(-) C/A
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)
MISSENSE_VARIANT,INTRON
rs104894737 Pathogenic: Amelogenesis imperfecta, type 1E 11,294,790(-) T/C
NM_001142.2(AMELX):c.2T>C (p.Met1Thr)
INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGAP6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP6 Gene

Variant ID Type Subtype PubMed ID
dgv2221e212 CNV loss 25503493
esv2739963 CNV deletion 23290073
esv3307419 CNV mobile element insertion 20981092
esv3371651 CNV insertion 20981092
esv3394184 CNV insertion 20981092
esv3573577 CNV loss 25503493
nsv472587 CNV novel sequence insertion 20440878
nsv515163 CNV loss 21397061
nsv6797 CNV deletion 18451855

Variation tolerance for ARHGAP6 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP6 Gene

Human Gene Mutation Database (HGMD)
ARHGAP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP6
Leiden Open Variation Database (LOVD)
ARHGAP6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP6 Gene

Disorders for ARHGAP6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARHGAP6 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARHGAP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP6 Gene

Publications for ARHGAP6 Gene

  1. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. (PMID: 9417914) Schaefer L … Zoghbi HY (Genomics 1997) 2 3 4 22
  2. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. (PMID: 10699171) Prakash SK … Zoghbi HY (Human molecular genetics 2000) 3 4 22
  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 SD … DREAM investigators (Diabetes care 2010) 3 40
  4. Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension. (PMID: 18434237) Ochocka AM … Pawelczyk T (The international journal of biochemistry & cell biology 2008) 3 22
  5. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3

Products for ARHGAP6 Gene

Sources for ARHGAP6 Gene