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ARHGEF28 (Rho guanine nucleotide exchange factor 28)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 28
Alias_symbol (synonym)RGNEF
p190RhoGEF
RIP2
Other aliasp190RHOGEF
HGNC (Hugo) ARHGEF28
LocusID (NCBI) 64283
Atlas_Id 52147
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 73813518 and ends at 73941993 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)
ARHGEF28 (5q13.2) / UTP15 (5q13.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Adenocarcinoma
t(5;5)(q13;q13) ARHGEF28/UTP15


External links

Nomenclature
HGNC (Hugo)ARHGEF28   30322
Cards
Entrez_Gene (NCBI)ARHGEF28  64283  Rho guanine nucleotide exchange factor 28
AliasesRGNEF; RIP2; p190RHOGEF
GeneCards (Weizmann)ARHGEF28
Ensembl hg19 (Hinxton)ENSG00000214944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214944 [Gene_View]  ENSG00000214944 [Sequence]  chr5:73813518-73941993 [Contig_View]  ARHGEF28 [Vega]
ICGC DataPortalENSG00000214944
TCGA cBioPortalARHGEF28
AceView (NCBI)ARHGEF28
Genatlas (Paris)ARHGEF28
WikiGenes64283
SOURCE (Princeton)ARHGEF28
Genetics Home Reference (NIH)ARHGEF28
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF28  -     chr5:73813518-73941993 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF28  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblARHGEF28 - 5q13.2 [CytoView hg19]  ARHGEF28 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIARHGEF28 [Mapview hg19]  ARHGEF28 [Mapview hg38]
OMIM612790   
Gene and transcription
Genbank (Entrez)AB082529 AK025470 AK025816 AK094713 AK129761
RefSeq transcript (Entrez)NM_001080479 NM_001177693 NM_001244364
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF28
Cluster EST : UnigeneHs.482521 [ NCBI ]
CGAP (NCI)Hs.482521
Alternative Splicing GalleryENSG00000214944
Gene ExpressionARHGEF28 [ NCBI-GEO ]   ARHGEF28 [ EBI - ARRAY_EXPRESS ]   ARHGEF28 [ SEEK ]   ARHGEF28 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF28 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64283
GTEX Portal (Tissue expression)ARHGEF28
Human Protein AtlasENSG00000214944-ARHGEF28 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N1W1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N1W1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N1W1
Splice isoforms : SwissVarQ8N1W1
PhosPhoSitePlusQ8N1W1
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)DH-domain    PE/DAG-bd    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)C1_1 (PF00130)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00130    pfam00621   
Domain families : Smart (EMBL)C1 (SM00109)  PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF28
DMDM Disease mutations64283
Blocks (Seattle)ARHGEF28
SuperfamilyQ8N1W1
Human Protein Atlas [tissue]ENSG00000214944-ARHGEF28 [tissue]
Peptide AtlasQ8N1W1
IPIIPI00887900   IPI00887743   IPI00887507   IPI00942541   IPI00880094   IPI00455803   IPI00966196   
Protein Interaction databases
DIP (DOE-UCLA)Q8N1W1
IntAct (EBI)Q8N1W1
FunCoupENSG00000214944
BioGRIDARHGEF28
STRING (EMBL)ARHGEF28
ZODIACARHGEF28
Ontologies - Pathways
QuickGOQ8N1W1
Ontology : AmiGORNA binding  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  plasma membrane  cell differentiation  regulation of Rho protein signal transduction  intracellular signal transduction  metal ion binding  ephrin receptor signaling pathway  regulation of molecular function  
Ontology : EGO-EBIRNA binding  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  plasma membrane  cell differentiation  regulation of Rho protein signal transduction  intracellular signal transduction  metal ion binding  ephrin receptor signaling pathway  regulation of molecular function  
NDEx NetworkARHGEF28
Atlas of Cancer Signalling NetworkARHGEF28
Wikipedia pathwaysARHGEF28
Orthology - Evolution
OrthoDB64283
GeneTree (enSembl)ENSG00000214944
Phylogenetic Trees/Animal Genes : TreeFamARHGEF28
HOVERGENQ8N1W1
HOGENOMQ8N1W1
Homologs : HomoloGeneARHGEF28
Homology/Alignments : Family Browser (UCSC)ARHGEF28
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF28/UTP15 [5q13.2/5q13.2]  
Fusion : QuiverARHGEF28
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF28 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF28
dbVarARHGEF28
ClinVarARHGEF28
1000_GenomesARHGEF28 
Exome Variant ServerARHGEF28
ExAC (Exome Aggregation Consortium)ENSG00000214944
GNOMAD BrowserENSG00000214944
Genetic variants : HAPMAP64283
Genomic Variants (DGV)ARHGEF28 [DGVbeta]
DECIPHERARHGEF28 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF28 
Mutations
ICGC Data PortalARHGEF28 
TCGA Data PortalARHGEF28 
Broad Tumor PortalARHGEF28
OASIS PortalARHGEF28 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDARHGEF28
BioMutasearch ARHGEF28
DgiDB (Drug Gene Interaction Database)ARHGEF28
DoCM (Curated mutations)ARHGEF28 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF28 (select a term)
intoGenARHGEF28
Cancer3DARHGEF28(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612790   
Orphanet
DisGeNETARHGEF28
MedgenARHGEF28
Genetic Testing Registry ARHGEF28
NextProtQ8N1W1 [Medical]
TSGene64283
GENETestsARHGEF28
Target ValidationARHGEF28
Huge Navigator ARHGEF28 [HugePedia]
snp3D : Map Gene to Disease64283
BioCentury BCIQARHGEF28
ClinGenARHGEF28
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64283
Chemical/Pharm GKB GenePA166048998
Clinical trialARHGEF28
Miscellaneous
canSAR (ICR)ARHGEF28 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF28
EVEXARHGEF28
GoPubMedARHGEF28
iHOPARHGEF28
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:14:51 CEST 2018

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