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ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)

Identity

Alias_namesADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
Alias_symbol (synonym)BIG2
Other aliasPVNH2
dJ1164I10.1
HGNC (Hugo) ARFGEF2
LocusID (NCBI) 10564
Atlas_Id 43129
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 48921738 and ends at 49036693 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitålmanl Cmsmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
A2M (12p13.31) / ARFGEF2 (20q13.13)ARFGEF2 (20q13.13) / CNIH2 (11q13.2)ARFGEF2 (20q13.13) / FAM19A5 (22q13.32)
ARFGEF2 (20q13.13) / SULF2 (20q13.12)ARFGEF2 (20q13.13) / TMED11P (4p16.3)ARFGEF2 (20q13.13) / TSHZ2 (20q13.2)
ATP6AP1 (Xq28) / ARFGEF2 (20q13.13)ATP9A (20q13.2) / ARFGEF2 (20q13.13)BSG (19p13.3) / ARFGEF2 (20q13.13)
CLPTM1L (5p15.33) / ARFGEF2 (20q13.13)CSE1L (20q13.13) / ARFGEF2 (20q13.13)CTSB (8p23.1) / ARFGEF2 (20q13.13)
IGF2R (6q25.3) / ARFGEF2 (20q13.13)ITM2B (13q14.2) / ARFGEF2 (20q13.13)KRT10 (17q21.2) / ARFGEF2 (20q13.13)
KRT14 (17q21.2) / ARFGEF2 (20q13.13)MBP (18q23) / ARFGEF2 (20q13.13)PREX1 (20q13.13) / ARFGEF2 (20q13.13)
SEMA3A (7q21.11) / ARFGEF2 (20q13.13)TMPRSS2 (21q22.3) / ARFGEF2 (20q13.13)TPT1 (13q14.13) / ARFGEF2 (20q13.13)
UGGT2 (13q32.1) / ARFGEF2 (20q13.13)A2M 12p13.31 / ARFGEF2 20q13.13ARFGEF2 20q13.13 / CNIH2 11q13.2
ARFGEF2 20q13.13 / FAM19A5 22q13.32ARFGEF2 20q13.13 / TSHZ2 20q13.2ATP6AP1 Xq28 / ARFGEF2 20q13.13
BSG 19p13.3 / ARFGEF2 20q13.13CLPTM1L 5p15.33 / ARFGEF2 20q13.13CSE1L 20q13.13 / ARFGEF2 20q13.13
CTSB 8p23.1 / ARFGEF2 20q13.13IGF2R 6q25.3 / ARFGEF2 20q13.13ITM2B 13q14.2 / ARFGEF2 20q13.13
KRT10 17q21.2 / ARFGEF2 20q13.13KRT14 17q21.2 / ARFGEF2 20q13.13MBP 18q23 / ARFGEF2 20q13.13
TMPRSS2 21q22.3 / ARFGEF2 20q13.13TPT1 13q14.13 / ARFGEF2 20q13.13

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)ARFGEF2   15853
Cards
Entrez_Gene (NCBI)ARFGEF2  10564  ADP ribosylation factor guanine nucleotide exchange factor 2
AliasesBIG2; PVNH2; dJ1164I10.1
GeneCards (Weizmann)ARFGEF2
Ensembl hg19 (Hinxton)ENSG00000124198 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124198 [Gene_View]  chr20:48921738-49036693 [Contig_View]  ARFGEF2 [Vega]
ICGC DataPortalENSG00000124198
TCGA cBioPortalARFGEF2
AceView (NCBI)ARFGEF2
Genatlas (Paris)ARFGEF2
WikiGenes10564
SOURCE (Princeton)ARFGEF2
Genetics Home Reference (NIH)ARFGEF2
Genomic and cartography
GoldenPath hg38 (UCSC)ARFGEF2  -     chr20:48921738-49036693 +  20q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARFGEF2  -     20q13.13   [Description]    (hg19-Feb_2009)
EnsemblARFGEF2 - 20q13.13 [CytoView hg19]  ARFGEF2 - 20q13.13 [CytoView hg38]
Mapping of homologs : NCBIARFGEF2 [Mapview hg19]  ARFGEF2 [Mapview hg38]
OMIM605371   608097   
Gene and transcription
Genbank (Entrez)AB209397 AF084521 AK022623 AK074303 AK302526
RefSeq transcript (Entrez)NM_006420
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARFGEF2
Cluster EST : UnigeneHs.62578 [ NCBI ]
CGAP (NCI)Hs.62578
Alternative Splicing GalleryENSG00000124198
Gene ExpressionARFGEF2 [ NCBI-GEO ]   ARFGEF2 [ EBI - ARRAY_EXPRESS ]   ARFGEF2 [ SEEK ]   ARFGEF2 [ MEM ]
Gene Expression Viewer (FireBrowse)ARFGEF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10564
GTEX Portal (Tissue expression)ARFGEF2
Human Protein AtlasENSG00000124198-ARFGEF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6D5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6D5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6D5
Splice isoforms : SwissVarQ9Y6D5
PhosPhoSitePlusQ9Y6D5
Domaine pattern : Prosite (Expaxy)SEC7 (PS50190)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    DCB_dom    Sec7_alpha_orthog    Sec7_C    Sec7_dom    Sec7_N   
Domain families : Pfam (Sanger)DCB (PF16213)    DUF1981 (PF09324)    Sec7 (PF01369)    Sec7_N (PF12783)   
Domain families : Pfam (NCBI)pfam16213    pfam09324    pfam01369    pfam12783   
Domain families : Smart (EMBL)Sec7 (SM00222)  
Conserved Domain (NCBI)ARFGEF2
DMDM Disease mutations10564
Blocks (Seattle)ARFGEF2
PDB (SRS)3L8N    3SWV   
PDB (PDBSum)3L8N    3SWV   
PDB (IMB)3L8N    3SWV   
PDB (RSDB)3L8N    3SWV   
Structural Biology KnowledgeBase3L8N    3SWV   
SCOP (Structural Classification of Proteins)3L8N    3SWV   
CATH (Classification of proteins structures)3L8N    3SWV   
SuperfamilyQ9Y6D5
Human Protein Atlas [tissue]ENSG00000124198-ARFGEF2 [tissue]
Peptide AtlasQ9Y6D5
HPRD09250
IPIIPI00002186   IPI01011126   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6D5
IntAct (EBI)Q9Y6D5
FunCoupENSG00000124198
BioGRIDARFGEF2
STRING (EMBL)ARFGEF2
ZODIACARFGEF2
Ontologies - Pathways
QuickGOQ9Y6D5
Ontology : AmiGOGolgi membrane  receptor recycling  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  protein binding  trans-Golgi network  trans-Golgi network  microtubule organizing center  cytosol  axonemal microtubule  exocytosis  Golgi to plasma membrane transport  endosome organization  endomembrane system organization  protein transport  membrane  myosin binding  cell junction  cytoplasmic vesicle  regulation of ARF protein signal transduction  asymmetric synapse  symmetric synapse  positive regulation of tumor necrosis factor production  protein kinase A regulatory subunit binding  intracellular signal transduction  dendritic spine  positive regulation of GTPase activity  perinuclear region of cytoplasm  GABA receptor binding  recycling endosome  
Ontology : EGO-EBIGolgi membrane  receptor recycling  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  protein binding  trans-Golgi network  trans-Golgi network  microtubule organizing center  cytosol  axonemal microtubule  exocytosis  Golgi to plasma membrane transport  endosome organization  endomembrane system organization  protein transport  membrane  myosin binding  cell junction  cytoplasmic vesicle  regulation of ARF protein signal transduction  asymmetric synapse  symmetric synapse  positive regulation of tumor necrosis factor production  protein kinase A regulatory subunit binding  intracellular signal transduction  dendritic spine  positive regulation of GTPase activity  perinuclear region of cytoplasm  GABA receptor binding  recycling endosome  
Pathways : BIOCARTAADP-Ribosylation Factor [Genes]   
NDEx NetworkARFGEF2
Atlas of Cancer Signalling NetworkARFGEF2
Wikipedia pathwaysARFGEF2
Orthology - Evolution
OrthoDB10564
GeneTree (enSembl)ENSG00000124198
Phylogenetic Trees/Animal Genes : TreeFamARFGEF2
HOVERGENQ9Y6D5
HOGENOMQ9Y6D5
Homologs : HomoloGeneARFGEF2
Homology/Alignments : Family Browser (UCSC)ARFGEF2
Gene fusions - Rearrangements
Fusion : MitelmanA2M/ARFGEF2 [12p13.31/20q13.13]  [t(12;20)(p13;q13)]  
Fusion : MitelmanARFGEF2/CNIH2 [20q13.13/11q13.2]  [t(11;20)(q13;q13)]  
Fusion : MitelmanARFGEF2/FAM19A5 [20q13.13/22q13.32]  [t(20;22)(q13;q13)]  
Fusion : MitelmanARFGEF2/SULF2 [20q13.13/20q13.12]  [inv(20)(q13q13)]  [t(20;20)(q13;q13)]  
Fusion : MitelmanARFGEF2/TSHZ2 [20q13.13/20q13.2]  [t(20;20)(q13;q13)]  
Fusion : MitelmanATP6AP1/ARFGEF2 [Xq28/20q13.13]  [t(X;20)(q28;q13)]  
Fusion : MitelmanATP9A/ARFGEF2 [20q13.2/20q13.13]  [inv(20)(q13q13)]  
Fusion : MitelmanBSG/ARFGEF2 [19p13.3/20q13.13]  [t(19;20)(p13;q13)]  
Fusion : MitelmanCLPTM1L/ARFGEF2 [5p15.33/20q13.13]  [t(5;20)(p15;q13)]  
Fusion : MitelmanCSE1L/ARFGEF2 [20q13.13/20q13.13]  [t(20;20)(q13;q13)]  
Fusion : MitelmanCTSB/ARFGEF2 [8p23.1/20q13.13]  [t(8;20)(p23;q13)]  
Fusion : MitelmanIGF2R/ARFGEF2 [6q25.3/20q13.13]  [t(6;20)(q25;q13)]  
Fusion : MitelmanITM2B/ARFGEF2 [13q14.2/20q13.13]  [t(13;20)(q14;q13)]  
Fusion : MitelmanKRT10/ARFGEF2 [17q21.2/20q13.13]  [t(17;20)(q21;q13)]  
Fusion : MitelmanKRT14/ARFGEF2 [17q21.2/20q13.13]  [t(17;20)(q21;q13)]  
Fusion : MitelmanMBP/ARFGEF2 [18q23/20q13.13]  [t(18;20)(q23;q13)]  
Fusion : MitelmanTMPRSS2/ARFGEF2 [21q22.3/20q13.13]  [t(20;21)(q13;q22)]  
Fusion : MitelmanTPT1/ARFGEF2 [13q14.13/20q13.13]  [t(13;20)(q14;q13)]  
Fusion : MitelmanUGGT2/ARFGEF2 [13q32.1/20q13.13]  [t(13;20)(q32;q13)]  
Fusion: TCGA_MDACCA2M 12p13.31 ARFGEF2 20q13.13 LUAD
Fusion: TCGA_MDACCARFGEF2 20q13.13 CNIH2 11q13.2 BRCA
Fusion: TCGA_MDACCARFGEF2 20q13.13 FAM19A5 22q13.32 BRCA
Fusion: TCGA_MDACCARFGEF2 20q13.13 TSHZ2 20q13.2 BRCA
Fusion: TCGA_MDACCATP6AP1 Xq28 ARFGEF2 20q13.13 BLCA
Fusion: TCGA_MDACCBSG 19p13.3 ARFGEF2 20q13.13 LGG
Fusion: TCGA_MDACCCLPTM1L 5p15.33 ARFGEF2 20q13.13 HNSC
Fusion: TCGA_MDACCCSE1L 20q13.13 ARFGEF2 20q13.13 BRCA KIRC
Fusion: TCGA_MDACCCTSB 8p23.1 ARFGEF2 20q13.13 LUAD
Fusion: TCGA_MDACCIGF2R 6q25.3 ARFGEF2 20q13.13 THCA
Fusion: TCGA_MDACCITM2B 13q14.2 ARFGEF2 20q13.13 LUAD
Fusion: TCGA_MDACCKRT10 17q21.2 ARFGEF2 20q13.13 SKCM
Fusion: TCGA_MDACCKRT14 17q21.2 ARFGEF2 20q13.13 HNSC
Fusion: TCGA_MDACCMBP 18q23 ARFGEF2 20q13.13 LGG
Fusion: TCGA_MDACCTMPRSS2 21q22.3 ARFGEF2 20q13.13 PRAD
Fusion: TCGA_MDACCTPT1 13q14.13 ARFGEF2 20q13.13 BRCA
Tumor Fusion PortalARFGEF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARFGEF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARFGEF2
dbVarARFGEF2
ClinVarARFGEF2
1000_GenomesARFGEF2 
Exome Variant ServerARFGEF2
ExAC (Exome Aggregation Consortium)ENSG00000124198
GNOMAD BrowserENSG00000124198
Genetic variants : HAPMAP10564
Genomic Variants (DGV)ARFGEF2 [DGVbeta]
DECIPHERARFGEF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARFGEF2 
Mutations
ICGC Data PortalAÒFGEFr 
TCGA Data PortalARFGEF2 
Broad Tumor PortalARFGEF2
OASIS PortalARFGEF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARFGEF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARFGEF2
intOGen PortalARFGEF2
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 ARFGEF2
DgiDB (Drug Gene Interaction Database)ARFGEF2
DoCM (Curated mutations)ARFGEF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARFGEF2 (select a term)
intoGenARFGEF2
Cancer3DARFGEF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605371    608097   
Orphanet13909   
DisGeNETARFGEF2
MedgenARFGEF2
Genetic Testing Registry ARFGEF2
NextProtQ9Y6D5 [Medical]
TSGene10564
GENETestsARFGEF2
Target ValidationARFGEF2
Huge Navigator ARFGEF2 [HugePedia]
snp3D : Map Gene to Disease10564
BioCentury BCIQARFGEF2
ClinGenARFGEF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10564
Chemical/Pharm GKB GenePA24945
Clinical trialARFGEF2
Miscellaneous
canSAR (ICR)ARFGEF2 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARFGEF2
EVEXARFGEF2
GoPubMedARFGEF2
iHOPARFGEF2
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 14:03:31 CET 2017

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