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RFWD2 (ring finger and WD repeat domain 2)

Identity

Alias_namesring finger and WD repeat domain 2
ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
Alias_symbol (synonym)FLJ10416
COP1
RNF200
Other alias
HGNC (Hugo) RFWD2
LocusID (NCBI) 64326
Atlas_Id 46245
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 175944826 and ends at 176207244 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)
DNM3 (1q24.3) / RFWD2 (1q25.1)EVI5 (1p22.1) / RFWD2 (1q25.1)EXD1 (15q15.1) / RFWD2 (1q25.1)
HHAT (1q32.2) / RFWD2 (1q25.1)PRKAB2 (1q21.1) / RFWD2 (1q25.1)RFWD2 (1q25.1) / KIF14 (1q32.1)
RFWD2 (1q25.1) / LOC100507127 ()RFWD2 (1q25.1) / SRGAP2 (1q32.1)RFWD2 (1q25.1) / XPR1 (1q25.3)
XPR1 (1q25.3) / RFWD2 (1q25.1)HHAT 1q32.2 / RFWD2 1q25.1RFWD2 1q25.1 / KIF14 1q32.1
RFWD2 1q25.1 / SRGAP2 1q32.1RFWD2 1q25.1 / XPR1 1q25.3XPR1 1q25.3 / RFWD2 1q25.1

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)RFWD2   17440
Cards
Entrez_Gene (NCBI)RFWD2  64326  ring finger and WD repeat domain 2
AliasesCOP1; RNF200
GeneCards (Weizmann)RFWD2
Ensembl hg19 (Hinxton)ENSG00000143207 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143207 [Gene_View]  chr1:175944826-176207244 [Contig_View]  RFWD2 [Vega]
ICGC DataPortalENSG00000143207
TCGA cBioPortalRFWD2
AceView (NCBI)RFWD2
Genatlas (Paris)RFWD2
WikiGenes64326
SOURCE (Princeton)RFWD2
Genetics Home Reference (NIH)RFWD2
Genomic and cartography
GoldenPath hg38 (UCSC)RFWD2  -     chr1:175944826-176207244 -  1q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFWD2  -     1q25.1   [Description]    (hg19-Feb_2009)
EnsemblRFWD2 - 1q25.1 [CytoView hg19]  RFWD2 - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBIRFWD2 [Mapview hg19]  RFWD2 [Mapview hg38]
OMIM608067   
Gene and transcription
Genbank (Entrez)AF508940 AF527539 AK001278 AK314750 AY509921
RefSeq transcript (Entrez)NM_001001740 NM_001286644 NM_022457
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFWD2
Cluster EST : UnigeneHs.523744 [ NCBI ]
CGAP (NCI)Hs.523744
Alternative Splicing GalleryENSG00000143207
Gene ExpressionRFWD2 [ NCBI-GEO ]   RFWD2 [ EBI - ARRAY_EXPRESS ]   RFWD2 [ SEEK ]   RFWD2 [ MEM ]
Gene Expression Viewer (FireBrowse)RFWD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64326
GTEX Portal (Tissue expression)RFWD2
Human Protein AtlasENSG00000143207-RFWD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHY2
Splice isoforms : SwissVarQ8NHY2
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ8NHY2
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)RING (SM00184)  WD40 (SM00320)  
Conserved Domain (NCBI)RFWD2
DMDM Disease mutations64326
Blocks (Seattle)RFWD2
PDB (SRS)5HQG    5IGQ   
PDB (PDBSum)5HQG    5IGQ   
PDB (IMB)5HQG    5IGQ   
PDB (RSDB)5HQG    5IGQ   
Structural Biology KnowledgeBase5HQG    5IGQ   
SCOP (Structural Classification of Proteins)5HQG    5IGQ   
CATH (Classification of proteins structures)5HQG    5IGQ   
SuperfamilyQ8NHY2
Human Protein Atlas [tissue]ENSG00000143207-RFWD2 [tissue]
Peptide AtlasQ8NHY2
HPRD07455
IPIIPI00171771   IPI00431955   IPI00184865   IPI00974420   IPI00940623   IPI00644382   IPI00978479   IPI00980524   IPI00979234   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHY2
IntAct (EBI)Q8NHY2
FunCoupENSG00000143207
BioGRIDRFWD2
STRING (EMBL)RFWD2
ZODIACRFWD2
Ontologies - Pathways
QuickGOQ8NHY2
Ontology : AmiGOGolgi membrane  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  zinc ion binding  response to ionizing radiation  protein ubiquitination  nuclear speck  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  ubiquitin protein ligase activity  
Ontology : EGO-EBIGolgi membrane  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  zinc ion binding  response to ionizing radiation  protein ubiquitination  nuclear speck  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  ubiquitin protein ligase activity  
Pathways : KEGGp53 signaling pathway    Ubiquitin mediated proteolysis   
NDEx NetworkRFWD2
Atlas of Cancer Signalling NetworkRFWD2
Wikipedia pathwaysRFWD2
Orthology - Evolution
OrthoDB64326
GeneTree (enSembl)ENSG00000143207
Phylogenetic Trees/Animal Genes : TreeFamRFWD2
HOVERGENQ8NHY2
HOGENOMQ8NHY2
Homologs : HomoloGeneRFWD2
Homology/Alignments : Family Browser (UCSC)RFWD2
Gene fusions - Rearrangements
Fusion : MitelmanHHAT/RFWD2 [1q32.2/1q25.1]  [t(1;1)(q25;q32)]  
Fusion : MitelmanRFWD2/KIF14 [1q25.1/1q32.1]  [t(1;1)(q25;q32)]  
Fusion : MitelmanRFWD2/SRGAP2 [1q25.1/1q32.1]  [t(1;1)(q25;q32)]  
Fusion : MitelmanRFWD2/XPR1 [1q25.1/1q25.3]  [t(1;1)(q25;q25)]  
Fusion : MitelmanXPR1/RFWD2 [1q25.3/1q25.1]  [t(1;1)(q25;q25)]  
Fusion: TCGA_MDACCHHAT 1q32.2 RFWD2 1q25.1 BRCA
Fusion: TCGA_MDACCRFWD2 1q25.1 KIF14 1q32.1 BRCA
Fusion: TCGA_MDACCRFWD2 1q25.1 SRGAP2 1q32.1 BRCA
Fusion: TCGA_MDACCRFWD2 1q25.1 XPR1 1q25.3 BRCA
Fusion: TCGA_MDACCXPR1 1q25.3 RFWD2 1q25.1 BRCA
Tumor Fusion PortalRFWD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFWD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFWD2
dbVarRFWD2
ClinVarRFWD2
1000_GenomesRFWD2 
Exome Variant ServerRFWD2
ExAC (Exome Aggregation Consortium)ENSG00000143207
GNOMAD BrowserENSG00000143207
Genetic variants : HAPMAP64326
Genomic Variants (DGV)RFWD2 [DGVbeta]
DECIPHERRFWD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFWD2 
Mutations
ICGC Data PortalRFWD2 
TCGA Data PortalRFWD2 
Broad Tumor PortalRFWD2
OASIS PortalRFWD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFWD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRFWD2
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 RFWD2
DgiDB (Drug Gene Interaction Database)RFWD2
DoCM (Curated mutations)RFWD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFWD2 (select a term)
intoGenRFWD2
Cancer3DRFWD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608067   
Orphanet
DisGeNETRFWD2
MedgenRFWD2
Genetic Testing Registry RFWD2
NextProtQ8NHY2 [Medical]
TSGene64326
GENETestsRFWD2
Target ValidationRFWD2
Huge Navigator RFWD2 [HugePedia]
snp3D : Map Gene to Disease64326
BioCentury BCIQRFWD2
ClinGenRFWD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64326
Chemical/Pharm GKB GenePA134952161
Clinical trialRFWD2
Miscellaneous
canSAR (ICR)RFWD2 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFWD2
EVEXRFWD2
GoPubMedRFWD2
iHOPRFWD2
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 14:32:13 CET 2017

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