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ARHGEF4 (Rho guanine nucleotide exchange factor 4)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 4
Alias_symbol (synonym)STM6
KIAA1112
ASEF
Other aliasASEF1
GEF4
HGNC (Hugo) ARHGEF4
LocusID (NCBI) 50649
Atlas_Id 700
Location 2q21.1  [Link to chromosome band 2q21]
Location_base_pair Starts at 131674224 and ends at 131804826 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGEF4 (2q21.1) / ECE1 (1p36.12)CPE (4q32.3) / ARHGEF4 (2q21.1)IGFBP5 (2q35) / ARHGEF4 (2q21.1)
PLEKHB2 (2q21.1) / ARHGEF4 (2q21.1)CPE 4q32.3 / ARHGEF4 2q21.1IGFBP5 2q35 / ARHGEF4 2q21.1

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)ARHGEF4   684
Cards
Entrez_Gene (NCBI)ARHGEF4  50649  Rho guanine nucleotide exchange factor 4
AliasesASEF; ASEF1; GEF4; STM6
GeneCards (Weizmann)ARHGEF4
Ensembl hg19 (Hinxton)ENSG00000136002 [Gene_View]  chr2:131674224-131804826 [Contig_View]  ARHGEF4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136002 [Gene_View]  chr2:131674224-131804826 [Contig_View]  ARHGEF4 [Vega]
ICGC DataPortalENSG00000136002
TCGA cBioPortalARHGEF4
AceView (NCBI)ARHGEF4
Genatlas (Paris)ARHGEF4
WikiGenes50649
SOURCE (Princeton)ARHGEF4
Genetics Home Reference (NIH)ARHGEF4
Genomic and cartography
GoldenPath hg19 (UCSC)ARHGEF4  -     chr2:131674224-131804826 +  2q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ARHGEF4  -     2q21.1   [Description]    (hg38-Dec_2013)
EnsemblARHGEF4 - 2q21.1 [CytoView hg19]  ARHGEF4 - 2q21.1 [CytoView hg38]
Mapping of homologs : NCBIARHGEF4 [Mapview hg19]  ARHGEF4 [Mapview hg38]
OMIM605216   
Gene and transcription
Genbank (Entrez)AB029035 AB042199 AF249745 AK127124 AL137289
RefSeq transcript (Entrez)NM_015320 NM_032995
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)ARHGEF4
Cluster EST : UnigeneHs.469935 [ NCBI ]
CGAP (NCI)Hs.469935
Alternative Splicing GalleryENSG00000136002
Gene ExpressionARHGEF4 [ NCBI-GEO ]   ARHGEF4 [ EBI - ARRAY_EXPRESS ]   ARHGEF4 [ SEEK ]   ARHGEF4 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50649
GTEX Portal (Tissue expression)ARHGEF4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR80   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR80  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR80
Splice isoforms : SwissVarQ9NR80
PhosPhoSitePlusQ9NR80
Domaine pattern : Prosite (Expaxy)DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)DH-domain    GDS_CDC24_CS    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)ARHGEF4
DMDM Disease mutations50649
Blocks (Seattle)ARHGEF4
PDB (SRS)2DX1    2PZ1    3NMX    3NMZ   
PDB (PDBSum)2DX1    2PZ1    3NMX    3NMZ   
PDB (IMB)2DX1    2PZ1    3NMX    3NMZ   
PDB (RSDB)2DX1    2PZ1    3NMX    3NMZ   
Structural Biology KnowledgeBase2DX1    2PZ1    3NMX    3NMZ   
SCOP (Structural Classification of Proteins)2DX1    2PZ1    3NMX    3NMZ   
CATH (Classification of proteins structures)2DX1    2PZ1    3NMX    3NMZ   
SuperfamilyQ9NR80
Human Protein AtlasENSG00000136002
Peptide AtlasQ9NR80
HPRD05559
IPIIPI00022186   IPI00154201   IPI00470754   IPI00871298   IPI00915898   IPI00852748   IPI00980893   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR80
IntAct (EBI)Q9NR80
FunCoupENSG00000136002
BioGRIDARHGEF4
STRING (EMBL)ARHGEF4
ZODIACARHGEF4
Ontologies - Pathways
QuickGOQ9NR80
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  protein domain specific binding  lamellipodium assembly  Rac guanyl-nucleotide exchange factor activity  ruffle membrane  regulation of Rho protein signal transduction  intracellular signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  filopodium assembly  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  protein domain specific binding  lamellipodium assembly  Rac guanyl-nucleotide exchange factor activity  ruffle membrane  regulation of Rho protein signal transduction  intracellular signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  filopodium assembly  regulation of small GTPase mediated signal transduction  
Pathways : KEGGRegulation of actin cytoskeleton   
NDEx NetworkARHGEF4
Atlas of Cancer Signalling NetworkARHGEF4
Wikipedia pathwaysARHGEF4
Orthology - Evolution
OrthoDB50649
GeneTree (enSembl)ENSG00000136002
Phylogenetic Trees/Animal Genes : TreeFamARHGEF4
HOVERGENQ9NR80
HOGENOMQ9NR80
Homologs : HomoloGeneARHGEF4
Homology/Alignments : Family Browser (UCSC)ARHGEF4
Gene fusions - Rearrangements
Fusion : MitelmanCPE/ARHGEF4 [4q32.3/2q21.1]  [t(2;4)(q21;q32)]  
Fusion : MitelmanIGFBP5/ARHGEF4 [2q35/2q21.1]  [t(2;2)(q21;q35)]  
Fusion : MitelmanPLEKHB2/ARHGEF4 [2q21.1/2q21.1]  [t(2;2)(q21;q22)]  
Fusion: TCGACPE 4q32.3 ARHGEF4 2q21.1 LGG
Fusion: TCGAIGFBP5 2q35 ARHGEF4 2q21.1 THCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF4
dbVarARHGEF4
ClinVarARHGEF4
1000_GenomesARHGEF4 
Exome Variant ServerARHGEF4
ExAC (Exome Aggregation Consortium)ARHGEF4 (select the gene name)
Genetic variants : HAPMAP50649
Genomic Variants (DGV)ARHGEF4 [DGVbeta]
DECIPHER (Syndromes)2:131674224-131804826  ENSG00000136002
CONAN: Copy Number AnalysisARHGEF4 
Mutations
ICGC Data PortalARHGEF4 
TCGA Data PortalARHGEF4 
Broad Tumor PortalARHGEF4
OASIS PortalARHGEF4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF4
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 ARHGEF4
DgiDB (Drug Gene Interaction Database)ARHGEF4
DoCM (Curated mutations)ARHGEF4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF4 (select a term)
intoGenARHGEF4
Cancer3DARHGEF4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605216   
Orphanet
MedgenARHGEF4
Genetic Testing Registry ARHGEF4
NextProtQ9NR80 [Medical]
TSGene50649
GENETestsARHGEF4
Huge Navigator ARHGEF4 [HugePedia]
snp3D : Map Gene to Disease50649
BioCentury BCIQARHGEF4
ClinGenARHGEF4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50649
Chemical/Pharm GKB GenePA24974
Clinical trialARHGEF4
Miscellaneous
canSAR (ICR)ARHGEF4 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF4
EVEXARHGEF4
GoPubMedARHGEF4
iHOPARHGEF4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:59 CEST 2017

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