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Aliases for ARHGEF6 Gene

Aliases for ARHGEF6 Gene

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

External Ids for ARHGEF6 Gene

Previous Symbols for ARHGEF6 Gene

  • MRX46

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 (GEF) 6) is a Protein Coding gene. Diseases associated with ARHGEF6 include non-syndromic x-linked intellectual disability and mental retardation. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include phospholipid binding 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

Genomic Location for ARHGEF6 Gene

Start:
136,665,547 bp from pter
End:
136,782,088 bp from pter
Size:
116,542 bases
Orientation:
Minus strand

Genomic View for ARHGEF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARHGEF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF6 Gene

Regulatory Elements for ARHGEF6 Gene

Proteins for ARHGEF6 Gene

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

    Protein Symbol:
    Q15052-ARHG6_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 6
    Protein Accession:
    Q15052
    Secondary Accessions:
    • A6NMW9
    • A8K6S7
    • B1AL37
    • Q15396
    • Q5JQ66
    • Q7Z3W1
    • Q86XH0

    Protein attributes for ARHGEF6 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF6 Gene

Proteomics data for ARHGEF6 Gene at MOPED

Post-translational modifications for ARHGEF6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys648, Lys682, Lys712, Lys722, and Lys736

Other Protein References for ARHGEF6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ARHGEF6 Gene

Domains for ARHGEF6 Gene

Gene Families for ARHGEF6 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ARHGEF :Rho guanine nucleotide exchange factors

UniProtKB/Swiss-Prot:

ARHG6_HUMAN
Domain:
  • Contains 1 CH (calponin-homology) domain.:
    • Q15052
  • Contains 1 DH (DBL-homology) domain.:
    • Q15052
  • Contains 1 PH domain.:
    • Q15052
  • Contains 1 SH3 domain.:
    • Q15052
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 NAS 11017088
GO:0005096 GTPase activator activity NAS 9582122
GO:0005515 protein binding IPI 11864573
genes like me logo Genes that share ontologies with ARHGEF6: view
genes like me logo Genes that share phenotypes with ARHGEF6: view

Animal Models for ARHGEF6 Gene

MGI Knock Outs for ARHGEF6:

miRNA for ARHGEF6 Gene

miRTarBase miRNAs that target ARHGEF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ARHGEF6 Gene COMPARTMENTS Subcellular localization image for ARHGEF6 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ARHGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11017088
GO:0005829 cytosol TAS --
GO:0005911 cell-cell junction IEA --
GO:0030027 lamellipodium ISS --
genes like me logo Genes that share ontologies with ARHGEF6: view

Pathways 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:0007254 JNK cascade NAS 11564864
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0030032 lamellipodium assembly ISS --
GO:0034329 cell junction assembly TAS --
genes like me logo Genes that share ontologies with ARHGEF6: view

Compounds for ARHGEF6 Gene

(3) HMDB Compounds for ARHGEF6 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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
ARHGEF6
ECgene alternative splicing isoforms for
ARHGEF6

Expression for ARHGEF6 Gene

mRNA expression in normal human tissues for ARHGEF6 Gene

Integrated Proteomics: protein expression 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

Q15052-ARHG6_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ARHGEF6: view

Orthologs for ARHGEF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF6 36
  • 96.5 (n)
  • 94.95 (a)
ARHGEF6 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGEF6 36
  • 92.44 (n)
  • 94.59 (a)
ARHGEF6 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF6 36
  • 91.61 (n)
  • 93.94 (a)
ARHGEF6 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef6 36
  • 88.83 (n)
  • 91.82 (a)
Arhgef6 16
Arhgef6 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF6 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF6 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef6 36
  • 89.06 (n)
  • 91.83 (a)
chicken
(Gallus gallus)
Aves ARHGEF6 36
  • 72.21 (n)
  • 75.23 (a)
ARHGEF6 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF6 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef6 36
  • 70.27 (n)
  • 70.44 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef6 37
  • 61 (a)
OneToOne
LOC558288 36
  • 63.32 (n)
  • 64.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta rtGEF 37
  • 15 (a)
OneToMany
rtGEF 38
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea pix-1 37
  • 26 (a)
OneToMany
K11E4.4 38
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2909 37
  • 39 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ARHGEF6 (if available)
TreeFam:
Gene Tree for ARHGEF6 (if available)

Paralogs for ARHGEF6 Gene

Selected 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 MAF
rs9670 -- 136,665,614(-) TTGTT(A/T)TTATT utr-variant-3-prime
rs473838 -- 136,753,792(-) AGGTT(A/G)TAAGC intron-variant
rs476774 -- 136,760,712(-) GAATT(G/T)GGCAT intron-variant
rs523143 -- 136,742,287(-) ggctg(G/T)agtgc intron-variant
rs529096 -- 136,761,763(-) AGAGA(C/T)CACTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7109 CNV Insertion 18451855

Relevant External Links for ARHGEF6 Gene

HapMap Linkage Disequilibrium report
ARHGEF6
Human Gene Mutation Database (HGMD)
ARHGEF6
Locus Specific Mutation Databases (LSDB)
ARHGEF6

Disorders for ARHGEF6 Gene

(1) OMIM Diseases for ARHGEF6 Gene (300267)

UniProtKB/Swiss-Prot

ARHG6_HUMAN
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ARHGEF6 Gene

(1) Novoseek inferred disease relationships for ARHGEF6 Gene

Disease -log(P) Hits PubMed IDs
mental retardation 69.3 9

Relevant External Links for ARHGEF6

Genetic Association Database (GAD)
ARHGEF6
Human Genome Epidemiology (HuGE) Navigator
ARHGEF6
genes like me logo Genes that share disorders with ARHGEF6: view

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
  2. Involvement of alpha-PAK-interacting exchange factor in the PAK1-c-Jun NH(2)-terminal kinase 1 activation and apoptosis induced by benzo[a]pyrene. (PMID: 11564864) Yoshii S. … Sugimura H. (Mol. Cell. Biol. 2001) 3 23
  3. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. (PMID: 12499396) Rosenberger G. … Kutsche K. (Hum. Mol. Genet. 2003) 3 23
  4. The first CH domain of affixin activates Cdc42 and Rac1 through alphaPIX, a Cdc42/Rac1-specific guanine nucleotide exchanging factor. (PMID: 15005707) Mishima W. … Ishigatsubo Y. (Genes Cells 2004) 4 23
  5. Novel regulatory mechanisms for the Dbl family guanine nucleotide exchange factor Cool-2/alpha-Pix. (PMID: 15306850) Feng Q. … Cerione R.A. (EMBO J. 2004) 3 23

Products for ARHGEF6 Gene

Sources for ARHGEF6 Gene

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