Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)

Identity

Alias (NCBI)COLLYBISTIN
DEE8
EIEE8
HPEM-2
PEM-2
PEM2
HGNC (Hugo) ARHGEF9
HGNC Alias symbKIAA0424
PEM-2
HGNC Alias namecollybistin
HGNC Previous nameCdc42 guanine nucleotide exchange factor (GEF) 9
LocusID (NCBI) 23229
Atlas_Id 43154
Location Xq11.1  [Link to chromosome band Xq11]
Location_base_pair Starts at 63634967 and ends at 63755123 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    Cdc42 guanine nucleotide exchange factor 9
AliasesCOLLYBISTIN; DEE8; EIEE8; HPEM-2; 
PEM-2; PEM2
GeneCards (Weizmann)ARHGEF9
Ensembl hg19 (Hinxton)ENSG00000131089 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131089 [Gene_View]  ENSG00000131089 [Sequence]  chrX:63634967-63755123 [Contig_View]  ARHGEF9 [Vega]
ICGC DataPortalENSG00000131089
TCGA cBioPortalARHGEF9
AceView (NCBI)ARHGEF9
Genatlas (Paris)ARHGEF9
SOURCE (Princeton)ARHGEF9
Genetics Home Reference (NIH)ARHGEF9
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF9  -     chrX:63634967-63755123 -  Xq11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF9  -     Xq11.1   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF9 - Xq11.1 [CytoView hg19]  ARHGEF9 - Xq11.1 [CytoView hg38]
ImmunoBaseENSG00000131089
Genome Data Viewer NCBIARHGEF9 [Mapview hg19]  
OMIM300429   300607   
Gene and transcription
Genbank (Entrez)AB007884 AK289993 AK294721 AK295033 AK295178
RefSeq transcript (Entrez)NM_001173479 NM_001173480 NM_001330495 NM_001353921 NM_001353922 NM_001353923 NM_001353924 NM_001353926 NM_001353927 NM_001353928 NM_001369030 NM_001369031 NM_001369032 NM_001369033 NM_001369034 NM_001369035 NM_001369036 NM_001369037 NM_001369038 NM_001369039 NM_001369040 NM_001369041 NM_001369042 NM_001369043 NM_001369044 NM_001369045 NM_015185
Consensus coding sequences : CCDS (NCBI)ARHGEF9
Gene ExpressionARHGEF9 [ NCBI-GEO ]   ARHGEF9 [ EBI - ARRAY_EXPRESS ]   ARHGEF9 [ SEEK ]   ARHGEF9 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF9 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGEF9 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23229
GTEX Portal (Tissue expression)ARHGEF9
Human Protein AtlasENSG00000131089-ARHGEF9 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO43307
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)ARHGEF9_SH3    DBL_dom_sf    DH-domain    PH-like_dom_sf    PH_domain    SH3-like_dom_sf    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
PDB (RSDB)2YSQ   
PDB Europe2YSQ   
PDB (PDBSum)2YSQ   
PDB (IMB)2YSQ   
Structural Biology KnowledgeBase2YSQ   
SCOP (Structural Classification of Proteins)2YSQ   
CATH (Classification of proteins structures)2YSQ   
SuperfamilyO43307
AlphaFold pdb e-kbO43307   
Human Protein Atlas [tissue]ENSG00000131089-ARHGEF9 [tissue]
HPRD02337
Protein Interaction databases
DIP (DOE-UCLA)O43307
IntAct (EBI)O43307
BioGRIDARHGEF9
STRING (EMBL)ARHGEF9
ZODIACARHGEF9
Ontologies - Pathways
QuickGOO43307
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  cytosol  cytosol  G protein-coupled receptor signaling pathway  postsynaptic density  positive regulation of apoptotic process  regulation of catalytic activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  cytosol  cytosol  G protein-coupled receptor signaling pathway  postsynaptic density  positive regulation of apoptotic process  regulation of catalytic 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
Homologs : HomoloGeneARHGEF9
Homology/Alignments : Family Browser (UCSC)ARHGEF9
Gene fusions - Rearrangements
Fusion : QuiverARHGEF9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF9
dbVarARHGEF9
ClinVarARHGEF9
MonarchARHGEF9
1000_GenomesARHGEF9 
Exome Variant ServerARHGEF9
GNOMAD BrowserENSG00000131089
Varsome BrowserARHGEF9
ACMGARHGEF9 variants
VarityO43307
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]  
Somatic Mutations in Cancer : COSMIC3DARHGEF9
Mutations and Diseases : HGMDARHGEF9
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaARHGEF9
DgiDB (Drug Gene Interaction Database)ARHGEF9
DoCM (Curated mutations)ARHGEF9
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF9
Cancer3DARHGEF9
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300429    300607   
Orphanet17561   
DisGeNETARHGEF9
MedgenARHGEF9
Genetic Testing Registry ARHGEF9
NextProtO43307 [Medical]
GENETestsARHGEF9
Target ValidationARHGEF9
Huge Navigator ARHGEF9 [HugePedia]
ClinGenARHGEF9 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeARHGEF9
Protein Interactions : CTDARHGEF9
Pharm GKB GenePA24978
PharosO43307
Clinical trialARHGEF9
Miscellaneous
canSAR (ICR)ARHGEF9
HarmonizomeARHGEF9
DataMed IndexARHGEF9
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXARHGEF9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:04 CEST 2021

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