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ARHGEF5 (Rho guanine nucleotide exchange factor 5)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 5
Alias_symbol (synonym)TIM
TIM1
GEF5
P60
Other alias
HGNC (Hugo) ARHGEF5
LocusID (NCBI) 7984
Atlas_Id 701
Location 7q35  [Link to chromosome band 7q35]
Location_base_pair Starts at 144355396 and ends at 144380632 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)

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)ARHGEF5   13209
Cards
Entrez_Gene (NCBI)ARHGEF5  7984  Rho guanine nucleotide exchange factor 5
AliasesGEF5; P60; TIM; TIM1
GeneCards (Weizmann)ARHGEF5
Ensembl hg19 (Hinxton)ENSG00000050327 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000050327 [Gene_View]  chr7:144355396-144380632 [Contig_View]  ARHGEF5 [Vega]
ICGC DataPortalENSG00000050327
TCGA cBioPortalARHGEF5
AceView (NCBI)ARHGEF5
Genatlas (Paris)ARHGEF5
WikiGenes7984
SOURCE (Princeton)ARHGEF5
Genetics Home Reference (NIH)ARHGEF5
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF5  -     chr7:144355396-144380632 +  7q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF5  -     7q35   [Description]    (hg19-Feb_2009)
EnsemblARHGEF5 - 7q35 [CytoView hg19]  ARHGEF5 - 7q35 [CytoView hg38]
Mapping of homologs : NCBIARHGEF5 [Mapview hg19]  ARHGEF5 [Mapview hg38]
OMIM600888   
Gene and transcription
Genbank (Entrez)AK090570 AK123596 AK160365 BC010046 BC011839
RefSeq transcript (Entrez)NM_001002861 NM_005435
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF5
Cluster EST : UnigeneHs.534621 [ NCBI ]
CGAP (NCI)Hs.534621
Alternative Splicing GalleryENSG00000050327
Gene ExpressionARHGEF5 [ NCBI-GEO ]   ARHGEF5 [ EBI - ARRAY_EXPRESS ]   ARHGEF5 [ SEEK ]   ARHGEF5 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7984
GTEX Portal (Tissue expression)ARHGEF5
Human Protein AtlasENSG00000050327-ARHGEF5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12774   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12774  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12774
Splice isoforms : SwissVarQ12774
PhosPhoSitePlusQ12774
Domaine pattern : Prosite (Expaxy)DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)ARHGEF5/35_N    DH-domain    GDS_CDC24_CS    PH_dom-like    PH_domain    SH3_domain   
Domain families : Pfam (Sanger)ARHGEF5_35 (PF15441)    RhoGEF (PF00621)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam15441    pfam00621    pfam14604   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ARHGEF5
DMDM Disease mutations7984
Blocks (Seattle)ARHGEF5
SuperfamilyQ12774
Human Protein Atlas [tissue]ENSG00000050327-ARHGEF5 [tissue]
Peptide AtlasQ12774
HPRD02932
IPIIPI00457243   IPI00418545   IPI00902602   IPI00945090   
Protein Interaction databases
DIP (DOE-UCLA)Q12774
IntAct (EBI)Q12774
FunCoupENSG00000050327
BioGRIDARHGEF5
STRING (EMBL)ARHGEF5
ZODIACARHGEF5
Ontologies - Pathways
QuickGOQ12774
Ontology : AmiGOpodosome  myeloid dendritic cell chemotaxis  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  GTP binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  lipid binding  actin cytoskeleton organization  cell junction  regulation of actin cytoskeleton organization  regulation of Rho protein signal transduction  intracellular signal transduction  cell projection  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of JUN kinase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of cytoskeleton organization  positive regulation of stress fiber assembly  regulation of ERK1 and ERK2 cascade  positive regulation of podosome assembly  cell periphery  positive regulation of protein import  
Ontology : EGO-EBIpodosome  myeloid dendritic cell chemotaxis  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  GTP binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  lipid binding  actin cytoskeleton organization  cell junction  regulation of actin cytoskeleton organization  regulation of Rho protein signal transduction  intracellular signal transduction  cell projection  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of JUN kinase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of cytoskeleton organization  positive regulation of stress fiber assembly  regulation of ERK1 and ERK2 cascade  positive regulation of podosome assembly  cell periphery  positive regulation of protein import  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]   
NDEx NetworkARHGEF5
Atlas of Cancer Signalling NetworkARHGEF5
Wikipedia pathwaysARHGEF5
Orthology - Evolution
OrthoDB7984
GeneTree (enSembl)ENSG00000050327
Phylogenetic Trees/Animal Genes : TreeFamARHGEF5
HOVERGENQ12774
HOGENOMQ12774
Homologs : HomoloGeneARHGEF5
Homology/Alignments : Family Browser (UCSC)ARHGEF5
Gene fusions - Rearrangements
Tumor Fusion PortalARHGEF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF5
dbVarARHGEF5
ClinVarARHGEF5
1000_GenomesARHGEF5 
Exome Variant ServerARHGEF5
ExAC (Exome Aggregation Consortium)ENSG00000050327
GNOMAD BrowserENSG00000050327
Genetic variants : HAPMAP7984
Genomic Variants (DGV)ARHGEF5 [DGVbeta]
DECIPHERARHGEF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF5 
Mutations
ICGC Data PortalARHGEF5 
TCGA Data PortalARHGEF5 
Broad Tumor PortalARHGEF5
OASIS PortalARHGEF5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF5
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 ARHGEF5
DgiDB (Drug Gene Interaction Database)ARHGEF5
DoCM (Curated mutations)ARHGEF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF5 (select a term)
intoGenARHGEF5
Cancer3DARHGEF5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600888   
Orphanet
DisGeNETARHGEF5
MedgenARHGEF5
Genetic Testing Registry ARHGEF5
NextProtQ12774 [Medical]
TSGene7984
GENETestsARHGEF5
Target ValidationARHGEF5
Huge Navigator ARHGEF5 [HugePedia]
snp3D : Map Gene to Disease7984
BioCentury BCIQARHGEF5
ClinGenARHGEF5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7984
Chemical/Pharm GKB GenePA24975
Clinical trialARHGEF5
Miscellaneous
canSAR (ICR)ARHGEF5 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF5
EVEXARHGEF5
GoPubMedARHGEF5
iHOPARHGEF5
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 : Tue Nov 21 14:03:41 CET 2017

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