Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ARHGEF11 (Rho guanine nucleotide exchange factor 11)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 11
Alias_symbol (synonym)KIAA0380
GTRAP48
PDZ-RHOGEF
Other alias
HGNC (Hugo) ARHGEF11
LocusID (NCBI) 9826
Atlas_Id 43145
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 156934840 and ends at 157045370 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF11 (1q23.1) / COL6A3 (2q37.3)ARHGEF11 (1q23.1) / DIS3L2 (2q37.1)ARHGEF11 (1q23.1) / EPN1 (19q13.42)
ARHGEF11 (1q23.1) / ETV3 (1q23.1)ARHGEF11 (1q23.1) / SEMA7A (15q24.1)COL6A3 (2q37.3) / ARHGEF11 (1q23.1)
ARHGEF11 1q23.1 / ETV3 1q23.1

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

 


External links

Nomenclature
HGNC (Hugo)ARHGEF11   14580
Cards
Entrez_Gene (NCBI)ARHGEF11  9826  Rho guanine nucleotide exchange factor 11
AliasesGTRAP48; PDZ-RHOGEF
GeneCards (Weizmann)ARHGEF11
Ensembl hg19 (Hinxton)ENSG00000132694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132694 [Gene_View]  chr1:156934840-157045370 [Contig_View]  ARHGEF11 [Vega]
ICGC DataPortalENSG00000132694
TCGA cBioPortalARHGEF11
AceView (NCBI)ARHGEF11
Genatlas (Paris)ARHGEF11
WikiGenes9826
SOURCE (Princeton)ARHGEF11
Genetics Home Reference (NIH)ARHGEF11
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF11  -     chr1:156934840-157045370 -  1q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF11  -     1q23.1   [Description]    (hg19-Feb_2009)
EnsemblARHGEF11 - 1q23.1 [CytoView hg19]  ARHGEF11 - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBIARHGEF11 [Mapview hg19]  ARHGEF11 [Mapview hg38]
OMIM605708   
Gene and transcription
Genbank (Entrez)AB002378 AK302500 AL832790 BC057394
RefSeq transcript (Entrez)NM_014784 NM_198236
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF11
Cluster EST : UnigeneHs.516954 [ NCBI ]
CGAP (NCI)Hs.516954
Alternative Splicing GalleryENSG00000132694
Gene ExpressionARHGEF11 [ NCBI-GEO ]   ARHGEF11 [ EBI - ARRAY_EXPRESS ]   ARHGEF11 [ SEEK ]   ARHGEF11 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9826
GTEX Portal (Tissue expression)ARHGEF11
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15085   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15085  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15085
Splice isoforms : SwissVarO15085
PhosPhoSitePlusO15085
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PDZ (PS50106)    PH_DOMAIN (PS50003)    RGS (PS50132)   
Domains : Interpro (EBI)DH-domain    PDZ    PDZ-RhoGEF    PH_dom-like    PH_domain    RGS    RGS-like_dom   
Domain families : Pfam (Sanger)PDZ (PF00595)    RGS-like (PF09128)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00595    pfam09128    pfam00621   
Domain families : Smart (EMBL)PDZ (SM00228)  PH (SM00233)  RGS (SM00315)  RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF11
DMDM Disease mutations9826
Blocks (Seattle)ARHGEF11
PDB (SRS)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
PDB (PDBSum)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
PDB (IMB)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
PDB (RSDB)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
Structural Biology KnowledgeBase1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
SCOP (Structural Classification of Proteins)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
CATH (Classification of proteins structures)1HTJ    1XCG    2DLS    3KZ1    3T06    5E6P   
SuperfamilyO15085
Human Protein AtlasENSG00000132694
Peptide AtlasO15085
HPRD09302
IPIIPI00157442   IPI01014632   IPI00377085   
Protein Interaction databases
DIP (DOE-UCLA)O15085
IntAct (EBI)O15085
FunCoupENSG00000132694
BioGRIDARHGEF11
STRING (EMBL)ARHGEF11
ZODIACARHGEF11
Ontologies - Pathways
QuickGOO15085
Ontology : AmiGOcytokinesis  regulation of cell growth  G-protein coupled receptor binding  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytoplasm  cytosol  movement of cell or subcellular component  striated muscle contraction  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway  Rho protein signal transduction  membrane  establishment of cell polarity  actin cytoskeleton organization  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of transcription, DNA-templated  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIcytokinesis  regulation of cell growth  G-protein coupled receptor binding  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytoplasm  cytosol  movement of cell or subcellular component  striated muscle contraction  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway  Rho protein signal transduction  membrane  establishment of cell polarity  actin cytoskeleton organization  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of transcription, DNA-templated  regulation of small GTPase mediated signal transduction  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]   
Pathways : KEGGVascular smooth muscle contraction   
NDEx NetworkARHGEF11
Atlas of Cancer Signalling NetworkARHGEF11
Wikipedia pathwaysARHGEF11
Orthology - Evolution
OrthoDB9826
GeneTree (enSembl)ENSG00000132694
Phylogenetic Trees/Animal Genes : TreeFamARHGEF11
HOVERGENO15085
HOGENOMO15085
Homologs : HomoloGeneARHGEF11
Homology/Alignments : Family Browser (UCSC)ARHGEF11
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF11/ETV3 [1q23.1/1q23.1]  
Fusion: TCGAARHGEF11 1q23.1 ETV3 1q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF11
dbVarARHGEF11
ClinVarARHGEF11
1000_GenomesARHGEF11 
Exome Variant ServerARHGEF11
ExAC (Exome Aggregation Consortium)ARHGEF11 (select the gene name)
Genetic variants : HAPMAP9826
Genomic Variants (DGV)ARHGEF11 [DGVbeta]
DECIPHERARHGEF11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF11 
Mutations
ICGC Data PortalARHGEF11 
TCGA Data PortalARHGEF11 
Broad Tumor PortalARHGEF11
OASIS PortalARHGEF11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ARHGEF11
DgiDB (Drug Gene Interaction Database)ARHGEF11
DoCM (Curated mutations)ARHGEF11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF11 (select a term)
intoGenARHGEF11
Cancer3DARHGEF11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605708   
Orphanet
MedgenARHGEF11
Genetic Testing Registry ARHGEF11
NextProtO15085 [Medical]
TSGene9826
GENETestsARHGEF11
Target ValidationARHGEF11
Huge Navigator ARHGEF11 [HugePedia]
snp3D : Map Gene to Disease9826
BioCentury BCIQARHGEF11
ClinGenARHGEF11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9826
Chemical/Pharm GKB GenePA24968
Clinical trialARHGEF11
Miscellaneous
canSAR (ICR)ARHGEF11 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF11
EVEXARHGEF11
GoPubMedARHGEF11
iHOPARHGEF11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:24:20 CEST 2017

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