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Aliases for ARHGEF6 Gene

Aliases for ARHGEF6 Gene

  • Rac/Cdc42 Guanine Nucleotide Exchange Factor 6 2 3 4 5
  • Rac/Cdc42 Guanine Nucleotide Exchange Factor (GEF) 6 2 3
  • Rac/Cdc42 Guanine Exchange Factor (GEF) 6 2 3
  • PAK-Interacting Exchange Factor Alpha 3 4
  • Alpha-PIX 3 4
  • Cool-2 3 4
  • COOL2 3 4
  • PIXA 3 4
  • Rho Guanine Nucleotide Exchange Factor 6 2
  • PAK-Interacting Exchange Factor, Alpha 3
  • PAK-Interacting Exchange Factor 2
  • Mental Retardation, X-Linked 46 2
  • AlphaPIX 3
  • KIAA0006 4
  • Alpha 2
  • MRX46 3

External Ids for ARHGEF6 Gene

Previous HGNC Symbols for ARHGEF6 Gene

  • MRX46

Previous GeneCards Identifiers for ARHGEF6 Gene

  • GC0XM130319
  • GC0XM132593
  • GC0XM133692
  • GC0XM134453
  • GC0XM135473
  • GC0XM135575
  • GC0XM135747
  • GC0XM125018

Summaries for ARHGEF6 Gene

Entrez Gene Summary for ARHGEF6 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGEF6 Gene

ARHGEF6 (Rac/Cdc42 Guanine Nucleotide Exchange Factor 6) is a Protein Coding gene. Diseases associated with ARHGEF6 include Non-Syndromic X-Linked Intellectual Disability and Laryngeal Benign Neoplasm. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF7.

UniProtKB/Swiss-Prot for ARHGEF6 Gene

  • Acts as a RAC1 guanine nucleotide exchange factor (GEF).

Gene Wiki entry for ARHGEF6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF6 Gene

Genomics for ARHGEF6 Gene

Regulatory Elements for ARHGEF6 Gene

Enhancers for ARHGEF6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARHGEF6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGEF6 Gene

136,665,547 bp from pter
136,782,088 bp from pter
116,542 bases
Minus strand

Genomic View for ARHGEF6 Gene

Genes around ARHGEF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF6 Gene

Proteins for ARHGEF6 Gene

  • Protein details for ARHGEF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rho guanine nucleotide exchange factor 6
    Protein Accession:
    Secondary Accessions:
    • A6NMW9
    • A8K6S7
    • B1AL37
    • Q15396
    • Q5JQ66
    • Q7Z3W1
    • Q86XH0

    Protein attributes for ARHGEF6 Gene

    776 amino acids
    Molecular mass:
    87499 Da
    Quaternary structure:
    • Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1 (By similarity). Interacts with PARVB. Interacts with BIN2. Identified in a complex with BIN2 and GIT2.
    • Sequence=BAA02796.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF6 Gene

    Alternative splice isoforms for ARHGEF6 Gene


neXtProt entry for ARHGEF6 Gene

Proteomics data for ARHGEF6 Gene at MOPED

Post-translational modifications for ARHGEF6 Gene

  • Ubiquitination at Lys 682, Lys 712, Lys 722, and Lys 736
  • Modification sites at PhosphoSitePlus

Other Protein References for ARHGEF6 Gene

No data available for DME Specific Peptides for ARHGEF6 Gene

Domains & Families for ARHGEF6 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGEF6: view

Function for ARHGEF6 Gene

Molecular function for ARHGEF6 Gene

UniProtKB/Swiss-Prot Function:
Acts as a RAC1 guanine nucleotide exchange factor (GEF).

Gene Ontology (GO) - Molecular Function for ARHGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with ARHGEF6: view
genes like me logo Genes that share phenotypes with ARHGEF6: view

Human Phenotype Ontology for ARHGEF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARHGEF6 Gene

MGI Knock Outs for ARHGEF6:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGEF6 Gene

Localization for ARHGEF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF6 Gene

Cell projection, lamellipodium.

Subcellular locations from

Jensen Localization Image for ARHGEF6 Gene COMPARTMENTS Subcellular localization image for ARHGEF6 gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ARHGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11017088
genes like me logo Genes that share ontologies with ARHGEF6: view

Pathways & Interactions for ARHGEF6 Gene

genes like me logo Genes that share pathways with ARHGEF6: view

Gene Ontology (GO) - Biological Process for ARHGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11564864
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0030032 lamellipodium assembly ISS --
GO:0034329 cell junction assembly TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with ARHGEF6: view

No data available for SIGNOR curated interactions for ARHGEF6 Gene

Drugs & Compounds for ARHGEF6 Gene

(3) Drugs for ARHGEF6 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 ARHGEF6: view

Transcripts for ARHGEF6 Gene

Unigene Clusters for ARHGEF6 Gene

Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF6 Gene

No ASD Table

Relevant External Links for ARHGEF6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARHGEF6 Gene

mRNA expression in normal human tissues for ARHGEF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.6) and Lymph node (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF6 Gene

SOURCE GeneReport for Unigene cluster for ARHGEF6 Gene Hs.522795

mRNA Expression by UniProt/SwissProt for ARHGEF6 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ARHGEF6: view

Protein tissue co-expression partners for ARHGEF6 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for ARHGEF6 Gene

Orthologs for ARHGEF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ARHGEF6 35
  • 92.44 (n)
  • 94.59 (a)
  • 95 (a)
(Canis familiaris)
Mammalia ARHGEF6 35
  • 91.61 (n)
  • 93.94 (a)
  • 94 (a)
(Mus musculus)
Mammalia Arhgef6 35
  • 88.83 (n)
  • 91.82 (a)
Arhgef6 16
Arhgef6 36
  • 89 (a)
(Pan troglodytes)
Mammalia ARHGEF6 35
  • 96.5 (n)
  • 94.95 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Arhgef6 35
  • 89.06 (n)
  • 91.83 (a)
(Monodelphis domestica)
Mammalia ARHGEF6 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia ARHGEF6 36
  • 81 (a)
(Gallus gallus)
Aves ARHGEF6 35
  • 72.21 (n)
  • 75.23 (a)
  • 75 (a)
(Anolis carolinensis)
Reptilia ARHGEF6 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef6 35
  • 70.27 (n)
  • 70.44 (a)
(Danio rerio)
Actinopterygii LOC558288 35
  • 63.32 (n)
  • 64.07 (a)
arhgef6 36
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta rtGEF 37
  • 43 (a)
rtGEF 36
  • 15 (a)
(Caenorhabditis elegans)
Secernentea K11E4.4 37
  • 26 (a)
pix-1 36
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2909 36
  • 39 (a)
Species with no ortholog for ARHGEF6:
  • 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)
  • 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)

Evolution for ARHGEF6 Gene

Gene Tree for ARHGEF6 (if available)
Gene Tree for ARHGEF6 (if available)

Paralogs for ARHGEF6 Gene

(6) SIMAP similar genes for ARHGEF6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ARHGEF6: view

Variants for ARHGEF6 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs5974620 - 136,708,707(+) AGTGT(A/C)TGTTG reference, missense
rs747675481 -- 136,694,603(+) GTCTT(A/T)GCACC intron-variant
rs747684272 -- 136,685,566(+) GGCAC(C/T)ACTGC intron-variant
rs747684789 -- 136,682,724(+) TAGGG(A/G)GTCTG intron-variant
rs747705134 -- 136,737,468(+) ATCTC(-/AA)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF6 Gene

Variant ID Type Subtype PubMed ID
nsv7109 CNV Insertion 18451855

Variation tolerance for ARHGEF6 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF6 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF6 Gene

Disorders for ARHGEF6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARHGEF6 Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Mental retardation, X-linked 46 (MRX46) [MIM:300436]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:11017088}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARHGEF6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ARHGEF6: view

No data available for Genatlas for ARHGEF6 Gene

Publications for ARHGEF6 Gene

  1. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. (PMID: 11017088) Kutsche K. … Gal A. (Nat. Genet. 2000) 3 4 23 67
  2. Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin. (PMID: 16320026) Yokota T. … Tsunoda T. (Acta Neuropathol. 2006) 3 23
  3. PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation. (PMID: 16897755) Gringel A. … Linder S. (J. Cell. Physiol. 2006) 3 23
  4. AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading. (PMID: 15611136) Rosenberger G. … Kutsche K. (J. Biol. Chem. 2005) 3 23
  5. The Cool-2/alpha-Pix protein mediates a Cdc42-Rac signaling cascade. (PMID: 15649357) Baird D. … Cerione R.A. (Curr. Biol. 2005) 3 23

Products for ARHGEF6 Gene

Sources for ARHGEF6 Gene