Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)

Identity

Alias_namesCdc42 guanine nucleotide exchange factor (GEF) 9
Alias_symbol (synonym)KIAA0424
PEM-2
Other aliasCOLLYBISTIN
EIEE8
HPEM-2
PEM2
HGNC (Hugo) ARHGEF9
LocusID (NCBI) 23229
Atlas_Id 43154
Location Xq11.1  [Link to chromosome band Xq11]
Location_base_pair Starts at 63634968 and ends at 63785546 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF9 (Xq11.1) / DIP2A (21q22.3)PRMT2 (21q22.3) / ARHGEF9 (Xq11.1)

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)ARHGEF9   14561
Cards
Entrez_Gene (NCBI)ARHGEF9  23229  Cdc42 guanine nucleotide exchange factor 9
AliasesCOLLYBISTIN; EIEE8; HPEM-2; PEM-2; 
PEM2
GeneCards (Weizmann)ARHGEF9
Ensembl hg19 (Hinxton)ENSG00000131089 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131089 [Gene_View]  chrX:63634968-63785546 [Contig_View]  ARHGEF9 [Vega]
ICGC DataPortalENSG00000131089
TCGA cBioPortalARHGEF9
AceView (NCBI)ARHGEF9
Genatlas (Paris)ARHGEF9
WikiGenes23229
SOURCE (Princeton)ARHGEF9
Genetics Home Reference (NIH)ARHGEF9
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF9  -     chrX:63634968-63785546 -  Xq11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF9  -     Xq11.1   [Description]    (hg19-Feb_2009)
EnsemblARHGEF9 - Xq11.1 [CytoView hg19]  ARHGEF9 - Xq11.1 [CytoView hg38]
Mapping of homologs : NCBIARHGEF9 [Mapview hg19]  ARHGEF9 [Mapview hg38]
OMIM300429   300607   
Gene and transcription
Genbank (Entrez)AB007884 AK289993 AK294721 AK295033 AK295178
RefSeq transcript (Entrez)NM_001173479 NM_001173480 NM_001330495 NM_015185
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF9
Cluster EST : UnigeneHs.734375 [ NCBI ]
CGAP (NCI)Hs.734375
Alternative Splicing GalleryENSG00000131089
Gene ExpressionARHGEF9 [ NCBI-GEO ]   ARHGEF9 [ EBI - ARRAY_EXPRESS ]   ARHGEF9 [ SEEK ]   ARHGEF9 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23229
GTEX Portal (Tissue expression)ARHGEF9
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43307   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43307  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43307
Splice isoforms : SwissVarO43307
PhosPhoSitePlusO43307
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain    SH3_domain   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00169    pfam00621    pfam00018   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ARHGEF9
DMDM Disease mutations23229
Blocks (Seattle)ARHGEF9
PDB (SRS)2YSQ   
PDB (PDBSum)2YSQ   
PDB (IMB)2YSQ   
PDB (RSDB)2YSQ   
Structural Biology KnowledgeBase2YSQ   
SCOP (Structural Classification of Proteins)2YSQ   
CATH (Classification of proteins structures)2YSQ   
SuperfamilyO43307
Human Protein AtlasENSG00000131089
Peptide AtlasO43307
HPRD02337
IPIIPI00552489   IPI00909049   IPI00956432   IPI00178151   IPI00642855   
Protein Interaction databases
DIP (DOE-UCLA)O43307
IntAct (EBI)O43307
FunCoupENSG00000131089
BioGRIDARHGEF9
STRING (EMBL)ARHGEF9
ZODIACARHGEF9
Ontologies - Pathways
QuickGOO43307
Ontology : AmiGOguanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  cytosol  ion transmembrane transport  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  cytosol  cytosol  ion transmembrane transport  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
NDEx NetworkARHGEF9
Atlas of Cancer Signalling NetworkARHGEF9
Wikipedia pathwaysARHGEF9
Orthology - Evolution
OrthoDB23229
GeneTree (enSembl)ENSG00000131089
Phylogenetic Trees/Animal Genes : TreeFamARHGEF9
HOVERGENO43307
HOGENOMO43307
Homologs : HomoloGeneARHGEF9
Homology/Alignments : Family Browser (UCSC)ARHGEF9
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF9
dbVarARHGEF9
ClinVarARHGEF9
1000_GenomesARHGEF9 
Exome Variant ServerARHGEF9
ExAC (Exome Aggregation Consortium)ARHGEF9 (select the gene name)
Genetic variants : HAPMAP23229
Genomic Variants (DGV)ARHGEF9 [DGVbeta]
DECIPHERARHGEF9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF9 
Mutations
ICGC Data PortalARHGEF9 
TCGA Data PortalARHGEF9 
Broad Tumor PortalARHGEF9
OASIS PortalARHGEF9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF9
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ARHGEF9
DgiDB (Drug Gene Interaction Database)ARHGEF9
DoCM (Curated mutations)ARHGEF9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF9 (select a term)
intoGenARHGEF9
Cancer3DARHGEF9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300429    300607   
Orphanet17561   
MedgenARHGEF9
Genetic Testing Registry ARHGEF9
NextProtO43307 [Medical]
TSGene23229
GENETestsARHGEF9
Target ValidationARHGEF9
Huge Navigator ARHGEF9 [HugePedia]
snp3D : Map Gene to Disease23229
BioCentury BCIQARHGEF9
ClinGenARHGEF9 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23229
Chemical/Pharm GKB GenePA24978
Clinical trialARHGEF9
Miscellaneous
canSAR (ICR)ARHGEF9 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF9
EVEXARHGEF9
GoPubMedARHGEF9
iHOPARHGEF9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:55:24 CEST 2017

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