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ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18)

Identity

Alias_namesrho/rac guanine nucleotide exchange factor (GEF) 18
Rho/Rac guanine nucleotide exchange factor (GEF) 18
Alias_symbol (synonym)P114-RhoGEF
KIAA0521
MGC15913
Other aliasRP78
HGNC (Hugo) ARHGEF18
LocusID (NCBI) 23370
Atlas_Id 43148
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7439688 and ends at 7472485 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF18 (19p13.2) / AAMDC (11q14.1)ARHGEF18 (19p13.2) / ABL1 (9q34.12)ARHGEF18 (19p13.2) / CHODL-AS1 (21q21.1)
ARHGEF18 (19p13.2) / HSCB (22q12.1)ARHGEF18 (19p13.2) / INSR (19p13.2)ARHGEF18 (19p13.2) / MYO9B (19p13.11)
GNG7 (19p13.3) / ARHGEF18 (19p13.2)PAK1 (11q13.5) / ARHGEF18 (19p13.2)PITPNB (22q12.1) / ARHGEF18 (19p13.2)
ARHGEF18 19p13.2 C11orf67ARHGEF18 19p13.2 / MYO9B 19p13.11GNG7 19p13.3 / ARHGEF18 19p13.2
PAK1 11q13.5 / ARHGEF18 19p13.2

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)ARHGEF18   17090
Cards
Entrez_Gene (NCBI)ARHGEF18  23370  Rho/Rac guanine nucleotide exchange factor 18
AliasesP114-RhoGEF; RP78
GeneCards (Weizmann)ARHGEF18
Ensembl hg19 (Hinxton)ENSG00000104880 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104880 [Gene_View]  chr19:7439688-7472485 [Contig_View]  ARHGEF18 [Vega]
ICGC DataPortalENSG00000104880
TCGA cBioPortalARHGEF18
AceView (NCBI)ARHGEF18
Genatlas (Paris)ARHGEF18
WikiGenes23370
SOURCE (Princeton)ARHGEF18
Genetics Home Reference (NIH)ARHGEF18
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF18  -     chr19:7439688-7472485 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF18  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblARHGEF18 - 19p13.2 [CytoView hg19]  ARHGEF18 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIARHGEF18 [Mapview hg19]  ARHGEF18 [Mapview hg38]
OMIM616432   617433   
Gene and transcription
Genbank (Entrez)AA609742 AA829883 AB011093 AK074372 AK127045
RefSeq transcript (Entrez)NM_001130955 NM_015318
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF18
Cluster EST : UnigeneHs.736818 [ NCBI ]
CGAP (NCI)Hs.736818
Alternative Splicing GalleryENSG00000104880
Gene ExpressionARHGEF18 [ NCBI-GEO ]   ARHGEF18 [ EBI - ARRAY_EXPRESS ]   ARHGEF18 [ SEEK ]   ARHGEF18 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23370
GTEX Portal (Tissue expression)ARHGEF18
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZSZ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZSZ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZSZ5
Splice isoforms : SwissVarQ6ZSZ5
PhosPhoSitePlusQ6ZSZ5
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00169    pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF18
DMDM Disease mutations23370
Blocks (Seattle)ARHGEF18
SuperfamilyQ6ZSZ5
Human Protein AtlasENSG00000104880
Peptide AtlasQ6ZSZ5
HPRD12479
IPIIPI00179437   IPI00895907   IPI00480141   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZSZ5
IntAct (EBI)Q6ZSZ5
FunCoupENSG00000104880
BioGRIDARHGEF18
STRING (EMBL)ARHGEF18
ZODIACARHGEF18
Ontologies - Pathways
QuickGOQ6ZSZ5
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  cytosol  cytoskeleton  plasma membrane  transforming growth factor beta receptor signaling pathway  small GTPase mediated signal transduction  regulation of cell shape  apical plasma membrane  actin cytoskeleton organization  cell junction  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  apical part of cell  regulation of small GTPase mediated signal transduction  extracellular exosome  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  cytosol  cytoskeleton  plasma membrane  transforming growth factor beta receptor signaling pathway  small GTPase mediated signal transduction  regulation of cell shape  apical plasma membrane  actin cytoskeleton organization  cell junction  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  apical part of cell  regulation of small GTPase mediated signal transduction  extracellular exosome  
NDEx NetworkARHGEF18
Atlas of Cancer Signalling NetworkARHGEF18
Wikipedia pathwaysARHGEF18
Orthology - Evolution
OrthoDB23370
GeneTree (enSembl)ENSG00000104880
Phylogenetic Trees/Animal Genes : TreeFamARHGEF18
HOVERGENQ6ZSZ5
HOGENOMQ6ZSZ5
Homologs : HomoloGeneARHGEF18
Homology/Alignments : Family Browser (UCSC)ARHGEF18
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF18/AAMDC [19p13.2/11q14.1]  
Fusion : MitelmanARHGEF18/CHODL-AS1 [19p13.2/21q21.1]  [t(19;21)(p13;q21)]  
Fusion : MitelmanARHGEF18/MYO9B [19p13.2/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanGNG7/ARHGEF18 [19p13.3/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanPAK1/ARHGEF18 [11q13.5/19p13.2]  [t(11;19)(q14;p13)]  
Fusion: TCGAARHGEF18 19p13.2 C11orf67 BRCA
Fusion: TCGAARHGEF18 19p13.2 MYO9B 19p13.11 BRCA
Fusion: TCGAGNG7 19p13.3 ARHGEF18 19p13.2 BRCA
Fusion: TCGAPAK1 11q13.5 ARHGEF18 19p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF18
dbVarARHGEF18
ClinVarARHGEF18
1000_GenomesARHGEF18 
Exome Variant ServerARHGEF18
ExAC (Exome Aggregation Consortium)ARHGEF18 (select the gene name)
Genetic variants : HAPMAP23370
Genomic Variants (DGV)ARHGEF18 [DGVbeta]
DECIPHERARHGEF18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF18 
Mutations
ICGC Data PortalARHGEF18 
TCGA Data PortalARHGEF18 
Broad Tumor PortalARHGEF18
OASIS PortalARHGEF18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF18  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF18
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 ARHGEF18
DgiDB (Drug Gene Interaction Database)ARHGEF18
DoCM (Curated mutations)ARHGEF18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF18 (select a term)
intoGenARHGEF18
Cancer3DARHGEF18(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616432    617433   
Orphanet
MedgenARHGEF18
Genetic Testing Registry ARHGEF18
NextProtQ6ZSZ5 [Medical]
TSGene23370
GENETestsARHGEF18
Target ValidationARHGEF18
Huge Navigator ARHGEF18 [HugePedia]
snp3D : Map Gene to Disease23370
BioCentury BCIQARHGEF18
ClinGenARHGEF18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23370
Chemical/Pharm GKB GenePA128394630
Clinical trialARHGEF18
Miscellaneous
canSAR (ICR)ARHGEF18 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF18
EVEXARHGEF18
GoPubMedARHGEF18
iHOPARHGEF18
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 : Wed Jun 7 12:24:21 CEST 2017

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