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ARHGEF4 (Rho guanine nucleotide exchange factor 4)

Identity

Alias (NCBI)ASEF
ASEF1
GEF4
SMIM39
STM6
HGNC (Hugo) ARHGEF4
HGNC Alias symbSTM6
KIAA1112
ASEF
ASEF1
HGNC Alias nameAPC-stimulated guanine nucleotide exchange factor
 APC-stimulated guanine nucleotide exchange factor 1
HGNC Previous nameRho guanine nucleotide exchange factor (GEF) 4
LocusID (NCBI) 50649
Atlas_Id 700
Location 2q21.1  [Link to chromosome band 2q21]
Location_base_pair Starts at 130836914 and ends at 131047253 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)
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    Rho guanine nucleotide exchange factor 4
AliasesASEF; ASEF1; GEF4; SMIM39; 
STM6
GeneCards (Weizmann)ARHGEF4
Ensembl hg19 (Hinxton)ENSG00000136002 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136002 [Gene_View]  ENSG00000136002 [Sequence]  chr2:130836914-131047253 [Contig_View]  ARHGEF4 [Vega]
ICGC DataPortalENSG00000136002
TCGA cBioPortalARHGEF4
AceView (NCBI)ARHGEF4
Genatlas (Paris)ARHGEF4
SOURCE (Princeton)ARHGEF4
Genetics Home Reference (NIH)ARHGEF4
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF4  -     chr2:130836914-131047253 +  2q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF4  -     2q21.1   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF4 - 2q21.1 [CytoView hg19]  ARHGEF4 - 2q21.1 [CytoView hg38]
ImmunoBaseENSG00000136002
Genome Data Viewer NCBIARHGEF4 [Mapview hg19]  
OMIM605216   
Gene and transcription
Genbank (Entrez)AB029035 AB042199 AF249745 AK127124 AL137289
RefSeq transcript (Entrez)NM_001367493 NM_001375900 NM_001375901 NM_001375902 NM_001375903 NM_001375904 NM_015320 NM_032995
Consensus coding sequences : CCDS (NCBI)ARHGEF4
Gene ExpressionARHGEF4 [ NCBI-GEO ]   ARHGEF4 [ EBI - ARRAY_EXPRESS ]   ARHGEF4 [ SEEK ]   ARHGEF4 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF4 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGEF4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50649
GTEX Portal (Tissue expression)ARHGEF4
Human Protein AtlasENSG00000136002-ARHGEF4 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9NR80
Domaine pattern : Prosite (Expaxy)DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)DBL_dom_sf    DH-domain    GDS_CDC24_CS    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)ARHGEF4
PDB (RSDB)2DX1    2PZ1    3NMX    3NMZ   
PDB Europe2DX1    2PZ1    3NMX    3NMZ   
PDB (PDBSum)2DX1    2PZ1    3NMX    3NMZ   
PDB (IMB)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
AlphaFold pdb e-kbQ9NR80   
Human Protein Atlas [tissue]ENSG00000136002-ARHGEF4 [tissue]
HPRD05559
Protein Interaction databases
DIP (DOE-UCLA)Q9NR80
IntAct (EBI)Q9NR80
BioGRIDARHGEF4
STRING (EMBL)ARHGEF4
ZODIACARHGEF4
Ontologies - Pathways
QuickGOQ9NR80
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  cytosol  G protein-coupled receptor signaling pathway  protein domain specific binding  lamellipodium assembly  ruffle membrane  intracellular signal transduction  positive regulation of apoptotic process  filopodium assembly  regulation of catalytic activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  cytosol  G protein-coupled receptor signaling pathway  protein domain specific binding  lamellipodium assembly  ruffle membrane  intracellular signal transduction  positive regulation of apoptotic process  filopodium assembly  regulation of catalytic activity  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
Homologs : HomoloGeneARHGEF4
Homology/Alignments : Family Browser (UCSC)ARHGEF4
Gene fusions - Rearrangements
Fusion : MitelmanCPE/ARHGEF4 [4q32.3/2q21.1]  
Fusion : MitelmanIGFBP5/ARHGEF4 [2q35/2q21.1]  
Fusion : MitelmanPLEKHB2/ARHGEF4 [2q21.1/2q21.1]  
Fusion : QuiverARHGEF4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF4
dbVarARHGEF4
ClinVarARHGEF4
MonarchARHGEF4
1000_GenomesARHGEF4 
Exome Variant ServerARHGEF4
GNOMAD BrowserENSG00000136002
Varsome BrowserARHGEF4
ACMGARHGEF4 variants
VarityQ9NR80
Genomic Variants (DGV)ARHGEF4 [DGVbeta]
DECIPHERARHGEF4 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DARHGEF4
Mutations and Diseases : HGMDARHGEF4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaARHGEF4
DgiDB (Drug Gene Interaction Database)ARHGEF4
DoCM (Curated mutations)ARHGEF4
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF4
Cancer3DARHGEF4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605216   
Orphanet
DisGeNETARHGEF4
MedgenARHGEF4
Genetic Testing Registry ARHGEF4
NextProtQ9NR80 [Medical]
GENETestsARHGEF4
Target ValidationARHGEF4
Huge Navigator ARHGEF4 [HugePedia]
ClinGenARHGEF4
Clinical trials, drugs, therapy
MyCancerGenomeARHGEF4
Protein Interactions : CTDARHGEF4
Pharm GKB GenePA24974
PharosQ9NR80
Clinical trialARHGEF4
Miscellaneous
canSAR (ICR)ARHGEF4
HarmonizomeARHGEF4
DataMed IndexARHGEF4
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXARHGEF4
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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