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ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6)

Identity

Alias_namesMRX46
mental retardation, X-linked 46
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Alias_symbol (synonym)alphaPIX
Cool-2
KIAA0006
alpha-PIX
Cool2
Other aliasCOOL2
PIXA
HGNC (Hugo) ARHGEF6
LocusID (NCBI) 9459
Atlas_Id 43152
Location Xq26.3  [Link to chromosome band Xq26]
Location_base_pair Starts at 136665551 and ends at 136767392 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CRKL (22q11.21) / ARHGEF6 (Xq26.3)CRLF3 (17q11.2) / ARHGEF6 (Xq26.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;12)(q33;q24) GIT2/PDGFRB


External links

Nomenclature
HGNC (Hugo)ARHGEF6   685
Cards
Entrez_Gene (NCBI)ARHGEF6  9459  Rac/Cdc42 guanine nucleotide exchange factor 6
AliasesCOOL2; Cool-2; MRX46; PIXA; 
alpha-PIX; alphaPIX
GeneCards (Weizmann)ARHGEF6
Ensembl hg19 (Hinxton)ENSG00000129675 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129675 [Gene_View]  chrX:136665551-136767392 [Contig_View]  ARHGEF6 [Vega]
ICGC DataPortalENSG00000129675
TCGA cBioPortalARHGEF6
AceView (NCBI)ARHGEF6
Genatlas (Paris)ARHGEF6
WikiGenes9459
SOURCE (Princeton)ARHGEF6
Genetics Home Reference (NIH)ARHGEF6
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF6  -     chrX:136665551-136767392 -  Xq26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF6  -     Xq26.3   [Description]    (hg19-Feb_2009)
EnsemblARHGEF6 - Xq26.3 [CytoView hg19]  ARHGEF6 - Xq26.3 [CytoView hg38]
Mapping of homologs : NCBIARHGEF6 [Mapview hg19]  ARHGEF6 [Mapview hg38]
OMIM300267   300436   
Gene and transcription
Genbank (Entrez)AF207831 AK129909 AK291742 AK294929 AK295709
RefSeq transcript (Entrez)NM_001306177 NM_004840
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF6
Cluster EST : UnigeneHs.522795 [ NCBI ]
CGAP (NCI)Hs.522795
Alternative Splicing GalleryENSG00000129675
Gene ExpressionARHGEF6 [ NCBI-GEO ]   ARHGEF6 [ EBI - ARRAY_EXPRESS ]   ARHGEF6 [ SEEK ]   ARHGEF6 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9459
GTEX Portal (Tissue expression)ARHGEF6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15052   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15052  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15052
Splice isoforms : SwissVarQ15052
PhosPhoSitePlusQ15052
Domaine pattern : Prosite (Expaxy)CH (PS50021)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)CH-domain    DH-domain    GEF_CC    PH_dom-like    PH_domain    SH3_domain    SM22_calponin   
Domain families : Pfam (Sanger)betaPIX_CC (PF16523)    CH (PF00307)    PH (PF00169)    RhoGEF (PF00621)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam16523    pfam00307    pfam00169    pfam00621    pfam14604   
Domain families : Smart (EMBL)CH (SM00033)  PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ARHGEF6
DMDM Disease mutations9459
Blocks (Seattle)ARHGEF6
PDB (SRS)1UJY    1WYR   
PDB (PDBSum)1UJY    1WYR   
PDB (IMB)1UJY    1WYR   
PDB (RSDB)1UJY    1WYR   
Structural Biology KnowledgeBase1UJY    1WYR   
SCOP (Structural Classification of Proteins)1UJY    1WYR   
CATH (Classification of proteins structures)1UJY    1WYR   
SuperfamilyQ15052
Human Protein AtlasENSG00000129675
Peptide AtlasQ15052
HPRD02226
IPIIPI00014256   IPI00640748   IPI01013212   
Protein Interaction databases
DIP (DOE-UCLA)Q15052
IntAct (EBI)Q15052
FunCoupENSG00000129675
BioGRIDARHGEF6
STRING (EMBL)ARHGEF6
ZODIACARHGEF6
Ontologies - Pathways
QuickGOQ15052
Ontology : AmiGOguanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytosol  apoptotic process  JNK cascade  lamellipodium  lamellipodium assembly  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytosol  apoptotic process  JNK cascade  lamellipodium  lamellipodium assembly  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]   
Pathways : KEGGRegulation of actin cytoskeleton    Pancreatic cancer   
NDEx NetworkARHGEF6
Atlas of Cancer Signalling NetworkARHGEF6
Wikipedia pathwaysARHGEF6
Orthology - Evolution
OrthoDB9459
GeneTree (enSembl)ENSG00000129675
Phylogenetic Trees/Animal Genes : TreeFamARHGEF6
HOVERGENQ15052
HOGENOMQ15052
Homologs : HomoloGeneARHGEF6
Homology/Alignments : Family Browser (UCSC)ARHGEF6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF6
dbVarARHGEF6
ClinVarARHGEF6
1000_GenomesARHGEF6 
Exome Variant ServerARHGEF6
ExAC (Exome Aggregation Consortium)ARHGEF6 (select the gene name)
Genetic variants : HAPMAP9459
Genomic Variants (DGV)ARHGEF6 [DGVbeta]
DECIPHERARHGEF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF6 
Mutations
ICGC Data PortalARHGEF6 
TCGA Data PortalARHGEF6 
Broad Tumor PortalARHGEF6
OASIS PortalARHGEF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF6
intOGen PortalARHGEF6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch ARHGEF6
DgiDB (Drug Gene Interaction Database)ARHGEF6
DoCM (Curated mutations)ARHGEF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF6 (select a term)
intoGenARHGEF6
Cancer3DARHGEF6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300267    300436   
Orphanet3256   
MedgenARHGEF6
Genetic Testing Registry ARHGEF6
NextProtQ15052 [Medical]
TSGene9459
GENETestsARHGEF6
Huge Navigator ARHGEF6 [HugePedia]
snp3D : Map Gene to Disease9459
BioCentury BCIQARHGEF6
ClinGenARHGEF6 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9459
Chemical/Pharm GKB GenePA24976
Clinical trialARHGEF6
Miscellaneous
canSAR (ICR)ARHGEF6 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF6
EVEXARHGEF6
GoPubMedARHGEF6
iHOPARHGEF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:06:39 CEST 2017

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