Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ARHGDIA (Rho GDP dissociation inhibitor alpha)

Identity

Alias_namesGDIA1
Rho GDP dissociation inhibitor (GDI) alpha
Alias_symbol (synonym)RHOGDI
Other aliasHEL-S-47e
NPHS8
RHOGDI-1
HGNC (Hugo) ARHGDIA
LocusID (NCBI) 396
Atlas_Id 50596
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81867719 and ends at 81870974 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)
ARHGDIA (17q25.3) / RNF213 (17q25.3)ARHGDIA (17q25.3) / SQSTM1 (5q35.3)ARHGDIA 17q25.3 / RNF213 17q25.3
ARHGDIA 17q25.3 / SQSTM1 5q35.3

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)ARHGDIA   678
Cards
Entrez_Gene (NCBI)ARHGDIA  396  Rho GDP dissociation inhibitor alpha
AliasesGDIA1; HEL-S-47e; NPHS8; RHOGDI; 
RHOGDI-1
GeneCards (Weizmann)ARHGDIA
Ensembl hg19 (Hinxton)ENSG00000141522 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141522 [Gene_View]  chr17:81867719-81870974 [Contig_View]  ARHGDIA [Vega]
ICGC DataPortalENSG00000141522
TCGA cBioPortalARHGDIA
AceView (NCBI)ARHGDIA
Genatlas (Paris)ARHGDIA
WikiGenes396
SOURCE (Princeton)ARHGDIA
Genetics Home Reference (NIH)ARHGDIA
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGDIA  -     chr17:81867719-81870974 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGDIA  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblARHGDIA - 17q25.3 [CytoView hg19]  ARHGDIA - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIARHGDIA [Mapview hg19]  ARHGDIA [Mapview hg38]
OMIM601925   615244   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001185077 NM_001185078 NM_001301240 NM_001301241 NM_001301242 NM_001301243 NM_004309
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGDIA
Cluster EST : UnigeneHs.728006 [ NCBI ]
CGAP (NCI)Hs.728006
Alternative Splicing GalleryENSG00000141522
Gene ExpressionARHGDIA [ NCBI-GEO ]   ARHGDIA [ EBI - ARRAY_EXPRESS ]   ARHGDIA [ SEEK ]   ARHGDIA [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGDIA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)396
GTEX Portal (Tissue expression)ARHGDIA
Human Protein AtlasENSG00000141522-ARHGDIA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52565   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52565  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52565
Splice isoforms : SwissVarP52565
PhosPhoSitePlusP52565
Domains : Interpro (EBI)Ig_E-set    Rho_GDI    RhoGDI_domain   
Domain families : Pfam (Sanger)Rho_GDI (PF02115)   
Domain families : Pfam (NCBI)pfam02115   
Conserved Domain (NCBI)ARHGDIA
DMDM Disease mutations396
Blocks (Seattle)ARHGDIA
PDB (SRS)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
PDB (PDBSum)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
PDB (IMB)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
PDB (RSDB)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
Structural Biology KnowledgeBase1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
SCOP (Structural Classification of Proteins)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
CATH (Classification of proteins structures)1CC0    1FSO    1FST    1FT0    1FT3    1HH4    1KMT    1QVY    1RHO    2BXW    2JHS    2JHT    2JHU    2JHV    2JHW    2JHX    2JHY    2JHZ    2JI0    2N80   
SuperfamilyP52565
Human Protein Atlas [tissue]ENSG00000141522-ARHGDIA [tissue]
Peptide AtlasP52565
HPRD03565
IPIIPI00003815   IPI00797560   IPI00797924   
Protein Interaction databases
DIP (DOE-UCLA)P52565
IntAct (EBI)P52565
FunCoupENSG00000141522
BioGRIDARHGDIA
STRING (EMBL)ARHGDIA
ZODIACARHGDIA
Ontologies - Pathways
QuickGOP52565
Ontology : AmiGORho GDP-dissociation inhibitor activity  GTPase activator activity  protein binding  cytosol  cytoskeleton  movement of cell or subcellular component  negative regulation of cell adhesion  regulation of Rho protein signal transduction  negative regulation of apoptotic process  positive regulation of GTPase activity  negative regulation of axonogenesis  positive regulation of axonogenesis  regulation of small GTPase mediated signal transduction  extracellular exosome  semaphorin-plexin signaling pathway  regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBIRho GDP-dissociation inhibitor activity  GTPase activator activity  protein binding  cytosol  cytoskeleton  movement of cell or subcellular component  negative regulation of cell adhesion  regulation of Rho protein signal transduction  negative regulation of apoptotic process  positive regulation of GTPase activity  negative regulation of axonogenesis  positive regulation of axonogenesis  regulation of small GTPase mediated signal transduction  extracellular exosome  semaphorin-plexin signaling pathway  regulation of actin cytoskeleton reorganization  
Pathways : KEGGNeurotrophin signaling pathway    Vasopressin-regulated water reabsorption   
NDEx NetworkARHGDIA
Atlas of Cancer Signalling NetworkARHGDIA
Wikipedia pathwaysARHGDIA
Orthology - Evolution
OrthoDB396
GeneTree (enSembl)ENSG00000141522
Phylogenetic Trees/Animal Genes : TreeFamARHGDIA
HOVERGENP52565
HOGENOMP52565
Homologs : HomoloGeneARHGDIA
Homology/Alignments : Family Browser (UCSC)ARHGDIA
Gene fusions - Rearrangements
Fusion : MitelmanARHGDIA/RNF213 [17q25.3/17q25.3]  
Fusion : MitelmanARHGDIA/SQSTM1 [17q25.3/5q35.3]  [t(5;17)(q35;q25)]  
Fusion: TCGA_MDACCARHGDIA 17q25.3 RNF213 17q25.3 LUAD
Fusion: TCGA_MDACCARHGDIA 17q25.3 SQSTM1 5q35.3 HNSC SKCM
Tumor Fusion PortalARHGDIA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGDIA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGDIA
dbVarARHGDIA
ClinVarARHGDIA
1000_GenomesARHGDIA 
Exome Variant ServerARHGDIA
ExAC (Exome Aggregation Consortium)ENSG00000141522
GNOMAD BrowserENSG00000141522
Genetic variants : HAPMAP396
Genomic Variants (DGV)ARHGDIA [DGVbeta]
DECIPHERARHGDIA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGDIA 
Mutations
ICGC Data PortalARHGDIA 
TCGA Data PortalARHGDIA 
Broad Tumor PortalARHGDIA
OASIS PortalARHGDIA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGDIA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGDIA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ARHGDIA
DgiDB (Drug Gene Interaction Database)ARHGDIA
DoCM (Curated mutations)ARHGDIA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGDIA (select a term)
intoGenARHGDIA
Cancer3DARHGDIA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601925    615244   
Orphanet12194   
DisGeNETARHGDIA
MedgenARHGDIA
Genetic Testing Registry ARHGDIA
NextProtP52565 [Medical]
TSGene396
GENETestsARHGDIA
Target ValidationARHGDIA
Huge Navigator ARHGDIA [HugePedia]
snp3D : Map Gene to Disease396
BioCentury BCIQARHGDIA
ClinGenARHGDIA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD396
Chemical/Pharm GKB GenePA24963
Clinical trialARHGDIA
Miscellaneous
canSAR (ICR)ARHGDIA (select the gene name)
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGDIA
EVEXARHGDIA
GoPubMedARHGDIA
iHOPARHGDIA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:03:37 CET 2017

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