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ARFGEF3 (ARFGEF family member 3)

Identity

Alias_namesregulatory subunit 33
C6orf92
KIAA1244
Alias_symbol (synonym)dJ171N11.1
BIG3
PPP1R33
Other aliasA7322
HGNC (Hugo) ARFGEF3
LocusID (NCBI) 57221
Atlas_Id 43331
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 138161916 and ends at 138344663 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)
ARFGEF3 (6q23.3) / AC093158.1 ()ARFGEF3 (6q23.3) / ARFGEF3 (6q23.3)ARFGEF3 (6q23.3) / DYNC2LI1 (2p21)
CNNM3 (2q11.2) / ARFGEF3 (6q23.3)

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)ARFGEF3   21213
Cards
Entrez_Gene (NCBI)ARFGEF3  57221  ARFGEF family member 3
AliasesA7322; BIG3; C6orf92; KIAA1244; 
PPP1R33; dJ171N11.1
GeneCards (Weizmann)ARFGEF3
Ensembl hg19 (Hinxton)ENSG00000112379 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112379 [Gene_View]  ENSG00000112379 [Sequence]  chr6:138161916-138344663 [Contig_View]  ARFGEF3 [Vega]
ICGC DataPortalENSG00000112379
TCGA cBioPortalARFGEF3
AceView (NCBI)ARFGEF3
Genatlas (Paris)ARFGEF3
WikiGenes57221
SOURCE (Princeton)ARFGEF3
Genetics Home Reference (NIH)ARFGEF3
Genomic and cartography
GoldenPath hg38 (UCSC)ARFGEF3  -     chr6:138161916-138344663 +  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARFGEF3  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblARFGEF3 - 6q23.3 [CytoView hg19]  ARFGEF3 - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIARFGEF3 [Mapview hg19]  ARFGEF3 [Mapview hg38]
OMIM617411   
Gene and transcription
Genbank (Entrez)AB033070 AB252196 AF413080 AK000682 AK021955
RefSeq transcript (Entrez)NM_020340
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARFGEF3
Cluster EST : UnigeneHs.194408 [ NCBI ]
CGAP (NCI)Hs.194408
Alternative Splicing GalleryENSG00000112379
Gene ExpressionARFGEF3 [ NCBI-GEO ]   ARFGEF3 [ EBI - ARRAY_EXPRESS ]   ARFGEF3 [ SEEK ]   ARFGEF3 [ MEM ]
Gene Expression Viewer (FireBrowse)ARFGEF3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57221
GTEX Portal (Tissue expression)ARFGEF3
Human Protein AtlasENSG00000112379-ARFGEF3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TH69   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TH69  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TH69
Splice isoforms : SwissVarQ5TH69
PhosPhoSitePlusQ5TH69
Domains : Interpro (EBI)ARM-type_fold    DCB_dom    Sec7_C    Sec7_dom   
Domain families : Pfam (Sanger)DCB (PF16213)    DUF1981 (PF09324)   
Domain families : Pfam (NCBI)pfam16213    pfam09324   
Domain families : Smart (EMBL)Sec7 (SM00222)  
Conserved Domain (NCBI)ARFGEF3
DMDM Disease mutations57221
Blocks (Seattle)ARFGEF3
SuperfamilyQ5TH69
Human Protein Atlas [tissue]ENSG00000112379-ARFGEF3 [tissue]
Peptide AtlasQ5TH69
HPRD13845
IPIIPI00514897   IPI00426055   IPI00879591   
Protein Interaction databases
DIP (DOE-UCLA)Q5TH69
IntAct (EBI)Q5TH69
FunCoupENSG00000112379
BioGRIDARFGEF3
STRING (EMBL)ARFGEF3
ZODIACARFGEF3
Ontologies - Pathways
QuickGOQ5TH69
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  negative regulation of phosphatase activity  integral component of membrane  transport vesicle membrane  regulation of ARF protein signal transduction  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  negative regulation of phosphatase activity  integral component of membrane  transport vesicle membrane  regulation of ARF protein signal transduction  
NDEx NetworkARFGEF3
Atlas of Cancer Signalling NetworkARFGEF3
Wikipedia pathwaysARFGEF3
Orthology - Evolution
OrthoDB57221
GeneTree (enSembl)ENSG00000112379
Phylogenetic Trees/Animal Genes : TreeFamARFGEF3
HOVERGENQ5TH69
HOGENOMQ5TH69
Homologs : HomoloGeneARFGEF3
Homology/Alignments : Family Browser (UCSC)ARFGEF3
Gene fusions - Rearrangements
Fusion : QuiverARFGEF3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARFGEF3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARFGEF3
dbVarARFGEF3
ClinVarARFGEF3
1000_GenomesARFGEF3 
Exome Variant ServerARFGEF3
ExAC (Exome Aggregation Consortium)ENSG00000112379
GNOMAD BrowserENSG00000112379
Genetic variants : HAPMAP57221
Genomic Variants (DGV)ARFGEF3 [DGVbeta]
DECIPHERARFGEF3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARFGEF3 
Mutations
ICGC Data PortalARFGEF3 
TCGA Data PortalARFGEF3 
Broad Tumor PortalARFGEF3
OASIS PortalARFGEF3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDARFGEF3
BioMutasearch ARFGEF3
DgiDB (Drug Gene Interaction Database)ARFGEF3
DoCM (Curated mutations)ARFGEF3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARFGEF3 (select a term)
intoGenARFGEF3
Cancer3DARFGEF3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617411   
Orphanet
DisGeNETARFGEF3
MedgenARFGEF3
Genetic Testing Registry ARFGEF3
NextProtQ5TH69 [Medical]
TSGene57221
GENETestsARFGEF3
Target ValidationARFGEF3
Huge Navigator ARFGEF3 [HugePedia]
snp3D : Map Gene to Disease57221
BioCentury BCIQARFGEF3
ClinGenARFGEF3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57221
Chemical/Pharm GKB GenePA134888863
Clinical trialARFGEF3
Miscellaneous
canSAR (ICR)ARFGEF3 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARFGEF3
EVEXARFGEF3
GoPubMedARFGEF3
iHOPARFGEF3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:14:41 CEST 2018

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