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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
  • Rho Guanine Nucleotide Exchange Factor 6 2 3
  • PAK-Interacting Exchange Factor, Alpha 2 3
  • Alpha-PIX 3 4
  • Cool-2 3 4
  • COOL2 3 4
  • PIXA 3 4
  • PAK-Interacting Exchange Factor Alpha 4
  • Mental Retardation, X-Linked 46 2
  • AlphaPIX 3
  • KIAA0006 4
  • 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 Supraglottis Cancer. Among its related pathways are Signaling by GPCR and GPCR Pathway. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF136764 0.2 ENCODE 13.3 +14.8 14790 4.6 ATF1 PKNOX1 FEZF1 GLIS2 GATA2 ZNF143 FOS ZNF263 SMARCA4 GLIS1 ARHGEF6 LOC100420958 PIR61624 GC0XP136774
GH0XF136878 0.2 ENCODE 12.4 -98.0 -98046 2.8 PKNOX1 ATF1 WRNIP1 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ARHGEF6 SRRM1P3 ENSG00000232611 GC0XM136880 GC0XM136881 SNORD61 RBMX
GH0XF136856 0.2 Ensembl 12.2 -74.5 -74522 0.8 PBX2 IKZF1 NBN SPI1 ARHGEF6 ENSG00000232611 SNORD61 GC0XM136880 GC0XM136881
GH0XF136828 0.7 Ensembl 12.1 -47.1 -47113 0.8 SPI1 ARHGEF6 ENSG00000202279 GC0XM136817 RAB28P5
GH0XF136749 0.6 Ensembl 11.4 +31.9 31888 1.6 ESRRA CEBPB DPF2 REST JUND ATF3 KLF16 HMBOX1 PRDM10 TRIM24 ARHGEF6 PIR61624 GC0XP136652
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARHGEF6 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001491813 1788 2201 PKNOX1 ETV1 MAX CEBPB ELF1 GABPA POLR2A ID3 HMBOX1 ZMIZ1

Genomic Location for ARHGEF6 Gene

Chromosome:
X
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

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:
    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

Post-translational modifications for ARHGEF6 Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ARHGEF6 (ARHGEF6)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ARHGEF6

No data available for DME Specific Peptides for ARHGEF6 Gene

Domains & Families for ARHGEF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q15052

UniProtKB/Swiss-Prot:

ARHG6_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
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:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
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

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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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
GO:0005829 cytosol TAS --
GO:0030027 lamellipodium ISS --
GO:0042995 cell projection IEA --
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:0007254 JNK cascade NAS 11564864
GO:0030032 lamellipodium assembly ISS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ARHGEF6 Gene



Protein tissue co-expression partners for ARHGEF6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF6 Gene:

ARHGEF6

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 expression patterns with ARHGEF6: view

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
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF6 34 35
  • 96.5 (n)
cow
(Bos Taurus)
Mammalia ARHGEF6 34 35
  • 92.44 (n)
dog
(Canis familiaris)
Mammalia ARHGEF6 34 35
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef6 34
  • 89.06 (n)
mouse
(Mus musculus)
Mammalia Arhgef6 34 16 35
  • 88.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF6 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF6 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF6 34 35
  • 72.21 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGEF6 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef6 34
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558288 34
  • 63.32 (n)
arhgef6 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rtGEF 36 35
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea K11E4.4 36
  • 26 (a)
pix-1 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2909 35
  • 39 (a)
OneToMany
Species where no ortholog for ARHGEF6 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)
  • 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

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
rs12008084 Likely benign 136,675,035(+) TTTGC(A/G)CTGGT reference, synonymous-codon
rs532348958 Likely benign 136,687,987(+) GATGA(C/G)TATCC reference, missense
rs75329154 Likely benign 136,732,149(+) TTTGA(C/T)GGCTT reference, missense
rs147131853 Uncertain significance 136,779,494(+) CAGAC(A/G)AAACT reference, missense
rs149768069 Uncertain significance 136,747,580(+) GTCAT(C/G)AGGAT reference, missense, utr-variant-5-prime

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)
ARHGEF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF6

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

Disorders for ARHGEF6 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

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. {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)
ARHGEF6
Human Genome Epidemiology (HuGE) Navigator
ARHGEF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF6
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 22 64
  2. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M. … Kaibuchi K. (J. Hum. Genet. 2010) 3 46 64
  3. 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 22 64
  4. 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 22 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64

Products for ARHGEF6 Gene

Sources for ARHGEF6 Gene

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