Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ARHGEF5 (Rho guanine nucleotide exchange factor 5)

Identity

Alias (NCBI)GEF5
P60
TIM
TIM1
HGNC (Hugo) ARHGEF5
HGNC Alias symbTIM
TIM1
GEF5
P60
HGNC Alias nametransforming immortalized mammary oncogene
 guanine nucleotide regulatory protein TIM
 ephexin3
HGNC Previous nameRho guanine nucleotide exchange factor (GEF) 5
LocusID (NCBI) 7984
Atlas_Id 701
Location 7q35  [Link to chromosome band 7q35]
Location_base_pair Starts at 144355402 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    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]  ENSG00000050327 [Sequence]  chr7:144355402-144380632 [Contig_View]  ARHGEF5 [Vega]
ICGC DataPortalENSG00000050327
TCGA cBioPortalARHGEF5
AceView (NCBI)ARHGEF5
Genatlas (Paris)ARHGEF5
SOURCE (Princeton)ARHGEF5
Genetics Home Reference (NIH)ARHGEF5
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF5  -     chr7:144355402-144380632 +  7q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF5  -     7q35   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF5 - 7q35 [CytoView hg19]  ARHGEF5 - 7q35 [CytoView hg38]
ImmunoBaseENSG00000050327
Genome Data Viewer NCBIARHGEF5 [Mapview hg19]  
OMIM600888   
Gene and transcription
Genbank (Entrez)AK090570 AK123596 AK160365 BC010046 BC011839
RefSeq transcript (Entrez)NM_001002861 NM_005435
Consensus coding sequences : CCDS (NCBI)ARHGEF5
Gene ExpressionARHGEF5 [ NCBI-GEO ]   ARHGEF5 [ EBI - ARRAY_EXPRESS ]   ARHGEF5 [ SEEK ]   ARHGEF5 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF5 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGEF5 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
PhosPhoSitePlusQ12774
Domaine pattern : Prosite (Expaxy)DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)ARHGEF5/35_N    DBL_dom_sf    DH-domain    GDS_CDC24_CS    PH-like_dom_sf    PH_domain    SH3-like_dom_sf    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
SuperfamilyQ12774
AlphaFold pdb e-kbQ12774   
Human Protein Atlas [tissue]ENSG00000050327-ARHGEF5 [tissue]
HPRD02932
Protein Interaction databases
DIP (DOE-UCLA)Q12774
IntAct (EBI)Q12774
BioGRIDARHGEF5
STRING (EMBL)ARHGEF5
ZODIACARHGEF5
Ontologies - Pathways
QuickGOQ12774
Ontology : AmiGOpodosome  guanyl-nucleotide exchange factor activity  protein binding  GTP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  plasma membrane  G protein-coupled receptor signaling pathway  lipid binding  cell junction  regulation of actin cytoskeleton organization  intracellular signal transduction  cell projection  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of JUN kinase activity  regulation of small GTPase mediated signal transduction  positive regulation of DNA-binding transcription factor activity  regulation of cytoskeleton organization  positive regulation of stress fiber assembly  regulation of ERK1 and ERK2 cascade  cell periphery  activation of GTPase activity  positive regulation of protein import  
Ontology : EGO-EBIpodosome  guanyl-nucleotide exchange factor activity  protein binding  GTP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  plasma membrane  G protein-coupled receptor signaling pathway  lipid binding  cell junction  regulation of actin cytoskeleton organization  intracellular signal transduction  cell projection  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of JUN kinase activity  regulation of small GTPase mediated signal transduction  positive regulation of DNA-binding transcription factor activity  regulation of cytoskeleton organization  positive regulation of stress fiber assembly  regulation of ERK1 and ERK2 cascade  cell periphery  activation of GTPase activity  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
Homologs : HomoloGeneARHGEF5
Homology/Alignments : Family Browser (UCSC)ARHGEF5
Gene fusions - Rearrangements
Fusion : QuiverARHGEF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF5
dbVarARHGEF5
ClinVarARHGEF5
MonarchARHGEF5
1000_GenomesARHGEF5 
Exome Variant ServerARHGEF5
GNOMAD BrowserENSG00000050327
Varsome BrowserARHGEF5
ACMGARHGEF5 variants
VarityQ12774
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]  
Somatic Mutations in Cancer : COSMIC3DARHGEF5
Mutations and Diseases : HGMDARHGEF5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaARHGEF5
DgiDB (Drug Gene Interaction Database)ARHGEF5
DoCM (Curated mutations)ARHGEF5
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF5
Cancer3DARHGEF5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600888   
Orphanet
DisGeNETARHGEF5
MedgenARHGEF5
Genetic Testing Registry ARHGEF5
NextProtQ12774 [Medical]
GENETestsARHGEF5
Target ValidationARHGEF5
Huge Navigator ARHGEF5 [HugePedia]
ClinGenARHGEF5
Clinical trials, drugs, therapy
MyCancerGenomeARHGEF5
Protein Interactions : CTDARHGEF5
Pharm GKB GenePA24975
PharosQ12774
Clinical trialARHGEF5
Miscellaneous
canSAR (ICR)ARHGEF5
HarmonizomeARHGEF5
DataMed IndexARHGEF5
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXARHGEF5
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 15:00:03 CEST 2021

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