Free for academic non-profit institutions. Other users need a Commercial license

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
  • RHOGAP6 3 4
  • Rho GTPase-Activating Protein 6 3
  • RHOGAPX-1 3

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 Microphthalmia. 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 and SH3/SH2 adaptor activity. An important paralog of this gene is ARHGAP36.

UniProtKB/Swiss-Prot 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.

Additional gene information for ARHGAP6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP6 Gene

Genomics for ARHGAP6 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP6 Gene

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
GH0XI011426 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 550.1 +238.0 238046 1.8 HDAC1 ATF1 TAF9B RB1 NFRKB NFXL1 EGR1 ARID2 ATF7 CREM ARHGAP6 LOC100422628 GC0XM011637
GH0XI011265 Promoter/Enhancer 1.3 EPDnew ENCODE 556.3 +399.5 399468 1.6 HDAC1 HDGF PKNOX1 ARNT NFRKB ZSCAN4 ARID2 SMARCA5 MTA1 SMARCA4 ARHGAP6 AMELX ENSG00000275194
GH0XI011664 Promoter/Enhancer 1.1 Ensembl ENCODE 556.8 +0.4 354 2.4 MAZ ZBTB6 ZBTB8A ZNF335 GLIS2 ZNF341 ZBTB26 EZH2 ZBTB20 ARHGAP6 GC0XM011661
GH0XI011264 Promoter 0.5 EPDnew 550 +401.1 401074 0.1 ARHGAP6 AMELX ENSG00000275194
GH0XI011425 Enhancer 0.6 FANTOM5 dbSUPER 24.3 +239.7 239719 0.2 ZNF148 PRDM10 ARHGAP6 LOC100422628 GC0XM011637
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGAP6 gene promoter:

Genomic Locations for ARHGAP6 Gene

Genomic Locations for ARHGAP6 Gene
chrX:11,137,543-11,665,701
(GRCh38/hg38)
Size:
528,159 bases
Orientation:
Minus strand
chrX:11,136,239-11,683,821
(GRCh37/hg19)

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
  • Predicted secreted proteins

Protein Domains for ARHGAP6 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ARHGAP6 Gene

Molecular function for ARHGAP6 Gene

GENATLAS Biochemistry:
Rho GTPase activating protein 6,aplysia related,involved in signal transduction
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.

Phenotypes From GWAS Catalog for ARHGAP6 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8570618
GO:0005096 GTPase activator activity TAS --
GO:0017124 SH3 domain binding IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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 5
mitochondrion 2
nucleus 2
golgi apparatus 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP6 Gene

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

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:0007266 Rho protein signal transduction NAS 10699171
GO:0009967 positive regulation of signal transduction IEA --
GO:0030041 actin filament polymerization NAS 10699171
genes like me logo Genes that share ontologies with ARHGAP6: view

No data available for SIGNOR curated interactions for ARHGAP6 Gene

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

Transcripts for ARHGAP6 Gene

Unigene Clusters for ARHGAP6 Gene

Rho GTPase activating protein 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ARHGAP6

Expression for ARHGAP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ARHGAP6 Gene



Protein tissue co-expression partners for ARHGAP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP6 Gene:

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(4.3)
genes like me logo Genes that share expression patterns with ARHGAP6: view

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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia ARHGAP6 33 34
  • 86.71 (n)
cow
(Bos Taurus)
Mammalia ARHGAP6 33 34
  • 86.49 (n)
mouse
(Mus musculus)
Mammalia Arhgap6 33 16 34
  • 84.88 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap6 33
  • 84.48 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP6 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP6 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP6 33 34
  • 71.51 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP6 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap6 33
  • 66.97 (n)
Str.14575 33
zebrafish
(Danio rerio)
Actinopterygii LOC101882360 33
  • 59.84 (n)
ARHGAP6 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP102A 35 34
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea rga-6 34
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LRG1 34
  • 14 (a)
OneToMany
SAC7 36
Species where no ortholog for ARHGAP6 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)
  • 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 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)

Evolution for ARHGAP6 Gene

ENSEMBL:
Gene Tree for ARHGAP6 (if available)
TreeFam:
Gene Tree for ARHGAP6 (if available)

Paralogs for ARHGAP6 Gene

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

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

Variants for ARHGAP6 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP6 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894733 pathogenic, Amelogenesis imperfecta, type 1E 11,298,243(-) C/T genic_upstream_transcript_variant, intron_variant
rs104894734 pathogenic, Amelogenesis imperfecta, type 1E 11,298,932(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs104894736 pathogenic, Amelogenesis imperfecta, type 1E 11,298,569(-) C/A genic_upstream_transcript_variant, intron_variant
rs104894737 pathogenic, Amelogenesis imperfecta, type 1E 11,294,790(-) T/C genic_upstream_transcript_variant, intron_variant
rs104894738 pathogenic, Amelogenesis imperfecta, type 1E 11,294,799(-) G/C genic_upstream_transcript_variant, intron_variant

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

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

Disorders for ARHGAP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP6

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 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 58
  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 58
  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 44 58
  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 58
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58

Products for ARHGAP6 Gene

Sources for ARHGAP6 Gene

Content
Loading form....