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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFWD2 Gene

protein-coding   GIFtS: 59
GCID: GC01M175913

Ring Finger And WD Repeat Domain 2, E3 Ubiquitin Protein...

(Previous name: ring finger and WD repeat domain 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ring Finger And WD Repeat Domain 2, E3 Ubiquitin Protein Ligase1 2     RING Finger Protein 2002 3
COP12 3 5     Ring Finger And WD Repeat Domain 21
Constitutive Photomorphogenesis Protein 1 Homolog2 3     Constitutive Photomorphogenic Protein (COP1)2
RNF2002 3     E3 Ubiquitin-Protein Ligase RFWD22
hCOP12 3     Putative Ubiquitin Ligase COP12
RING Finger And WD Repeat Domain Protein 22 3     EC 6.3.2.-3

External Ids:    HGNC: 174401   Entrez Gene: 643262   Ensembl: ENSG000001432077   OMIM: 6080675   UniProtKB: Q8NHY23   

Export aliases for RFWD2 gene to outside databases

Previous GC identifers: GC01M172647 GC01M174180 GC01M147140


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RFWD2 Gene: 
RFWD2 (ring finger and WD repeat domain 2, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RFWD2 include narcolepsy, and myeloid leukemia, and among its related super-pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cell Cycle, Mitotic. GO annotations related to this gene include zinc ion binding and ligase activity. An important paralog of this gene is RBBP7.

UniProtKB/Swiss-Prot: RFWD2_HUMAN, Q8NHY2
Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of
target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and
degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent
transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin
ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does
not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the
ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and
proteasomal degradation, leading to AKT activation and promotion of cell survival

Gene Wiki entry for RFWD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFWD2 gene promoter:
         SREBP-1a   AP-1   SREBP-1c   ATF-2   Olf-1   c-Jun   Cdc5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFWD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RFWD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFWD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.1-q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25.1-q25.2

RFWD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFWD2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M175913:  view genomic region     (about GC identifiers)

Start:
175,913,967 bp from pter      End:
176,176,629 bp from pter
Size:
262,663 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RFWD2_HUMAN, Q8NHY2 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RFWD2  
Size: 731 amino acids; 80474 Da
Subunit: Homodimer. Homodimerization is mediated by the coiled coil domain. Component of the DCX DET1-COP1
ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Isoform 2 does not interact with
CUL4A but still binds to RBX1, suggesting that the interaction may be mediated by another cullin protein. Isoform
1 and isoform 2 interact with CUL5 but not with CUL1, CUL2 not CUL3. Interacts with bZIP transcription factors
JUN, JUNB and JUND but not with FOS, ATF2 nor XBP1. Interacts with p53 (TP53). Interacts with COPS6; this
interaction stabilizes RFWD2 through reducing its auto-ubiquitination and decelerating its turnover rate.
Interacts with SFN; this interaction leads to SFN degradation. Isoform 4 forms heterodimers with isoform 1,
preventing its association with DET1
Subcellular location: Nucleus speckle. Cytoplasm. Note=In the nucleus, it forms nuclear speckles
Secondary accessions: Q504W6 Q6H103 Q9H6L7
Alternative splicing: 4 isoforms:  Q8NHY2-1   Q8NHY2-2   Q8NHY2-3   Q8NHY2-4   (Unable to associate with other components of the CRL complex. Acts as a dominant-negative)

Explore the universe of human proteins at neXtProt for RFWD2: NX_Q8NHY2

Explore proteomics data for RFWD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NHY2

  • RFWD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFWD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001740.1  NP_071902.2  

    ENSEMBL proteins: 
     ENSP00000356639   ENSP00000356641   ENSP00000356638   ENSP00000310943   ENSP00000437212  
     ENSP00000433810   ENSP00000437275   ENSP00000433517  
    Reactome Protein details: Q8NHY2
    Human Recombinant Protein Products for RFWD2: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--

    RFWD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers
    WDR: WD repeat domain containing

    5/7 InterPro protein domains (see all 7):
     IPR001841 Znf_RING
     IPR019775 WD40_repeat_CS
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR001680 WD40_repeat

    Graphical View of Domain Structure for InterPro Entry Q8NHY2

    ProtoNet protein and cluster: Q8NHY2

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RFWD2_HUMAN, Q8NHY2
    Domain: The RING finger domain, in addition to its role in ubiquitination, functions as a structural scaffold to
    bring two clusters of positive-charged residues within spatial proximity to mimic a bipartite nuclear
    localization signal (NLS) (By similarity)
    Similarity: Belongs to the COP1 family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 7 WD repeats


    RFWD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFWD2_HUMAN, Q8NHY2
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of
    target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
    thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and
    degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent
    transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin
    ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does
    not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the
    ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and
    proteasomal degradation, leading to AKT activation and promotion of cell survival
    Induction: By p53/TP53

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
    GO:0046872metal ion binding ----
         
    RFWD2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for RFWD2:
     Decreased cilium length after   Decreased viability with pacli  Increased cell death HMECs cel 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Rfwd2):
     cardiovascular system  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     integument  mortality/aging  no phenotypic analysis  pigmentation  reproductive system 
     tumorigenesis 

    RFWD2 for phenotypes           About GeneDecksing

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    SwitchGear 3'UTR luciferase reporter plasmidRFWD2 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RFWD2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Autodegradation of the E3 ubiquitin ligase COP10.92
    p53-Dependent G1 DNA Damage Response0.91
    Stabilization of p530.91
    G1/S DNA Damage Checkpoints0.87
    p53-Dependent G1/S DNA damage checkpoint0.91
    Cell Cycle Checkpoints0.58
    2Cell Cycle
    Cell Cycle0.84
    3p53 signaling pathway
    p53 signaling pathway0.41
    4Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36
    5p53 pathway
    p53 pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for RFWD2
        p53 pathway
    Direct p53 effectors

    5/7        Reactome Pathways for RFWD2 (see all 7)
        Autodegradation of the E3 ubiquitin ligase COP1
    Stabilization of p53
    Cell Cycle
    p53-Dependent G1/S DNA damage checkpoint
    Cell Cycle Checkpoints


    2         Kegg Pathways  (Kegg details for RFWD2):
        p53 signaling pathway
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: RFWD2_HUMAN, Q8NHY2
    Pathway: Protein modification; protein ubiquitination


    RFWD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RFWD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/87 Interacting proteins for RFWD2 (Q8NHY21, 2, 3 ENSP000003566414) via UniProtKB, MINT, STRING, and/or I2D (see all 87)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-49847 MINT-49844 MINT-49845 MINT-49846 I2D: score=4 STRING: ENSP00000269305
    JUNP054122, 3, ENSP000003602664MINT-19379 I2D: score=4 STRING: ENSP00000360266
    JUNDP175352, 3, ENSP000002528184MINT-19380 I2D: score=3 STRING: ENSP00000252818
    SFNP319471, 3, ENSP000003409894EBI-1176214,EBI-476295 I2D: score=1 STRING: ENSP00000340989
    DET1Q7L5Y63, ENSP000004089944I2D: score=2 STRING: ENSP00000408994
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006977DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS--
    GO:0016567protein ubiquitination IEA--

    RFWD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RFWD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    4 HMDB Compounds for RFWD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for RFWD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phytochrome 78.9 3 18053005 (1), 1467650 (1), 8038603 (1)

    Search CenterWatch for drugs/clinical trials and news about RFWD2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RFWD2 gene (2 alternative transcripts): 
    NM_001001740.2  NM_022457.5  

    Unigene Cluster for RFWD2:

    Ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
    Hs.523744  [show with all ESTs]
    Unigene Representative Sequence: NM_022457
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461830 ENST00000367667 ENST00000367669(uc009wwv.2 uc001gkt.1 uc001gku.1 uc001gkv.1 uc001gkw.1)
    ENST00000367666 ENST00000482305 ENST00000308769 ENST00000459744 ENST00000498306
    ENST00000491600 ENST00000474194
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    Additional mRNA sequence: 

    AF508940.1 AF527539.1 AK001278.1 AK314750.1 AY509921.1 BC020845.1 BC039723.1 BC094728.1 

    15 DOTS entries:

    DT.95281185  DT.100784051  DT.101984316  DT.100784042  DT.451830  DT.95154007  DT.95281212  DT.100033582 
    DT.100740117  DT.91716993  DT.95281188  DT.95281190  DT.100784045  DT.75114017  DT.97845154 

    24/190 AceView cDNA sequences (see all 190):

    AA041406 AI784107 AA304487 AA034353 AI140931 BG388481 BG680333 BG389790 
    AL527310 BM784290 NM_001001740 BI768290 CA450176 BX102159 AK001278 AA496919 
    AL549989 AI401265 AA262937 BM752976 BC020845 BU608480 CA454286 AA586691 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RFWD2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                                                                        
    SP2:                                      -                 -                                                               
    SP3:                          -                                                                                             


    ECgene alternative splicing isoforms for RFWD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RFWD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACATTGCTG
    RFWD2 Expression
    About this image


    See RFWD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFWD2

    SOURCE GeneReport for Unigene cluster: Hs.523744

    UniProtKB/Swiss-Prot: RFWD2_HUMAN, Q8NHY2
    Tissue specificity: Ubiquitously expressed at low level. Expressed at higher level in testis, placenta, skeletal
    muscle and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including RFWD2: 
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              Apoptosis 384HT in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RFWD2 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfwd21 , 5 ring finger and WD repeat domain 21, 5 92.66(n)1
    97.81(a)1
      1 (69.03 cM)5
    263741  NM_011931.31  NP_036061.11 
     1592323265 
    chicken
    (Gallus gallus)
    Aves RFWD21 ring finger and WD repeat domain 2 82.18(n)
    91.91(a)
      429072  XM_426628.3  XP_426628.3 
    lizard
    (Anolis carolinensis)
    Reptilia RFWD26
    ring finger and WD repeat domain 2, E3 ubiquitin p...
    82(a)
    1 ↔ 1
    4(72640271-72715531)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.52212 Xenopus laevis transcribed sequence with moderate similarity more 81.28(n)    CA985530.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rfwd21 ring finger and WD repeat domain 2 73.2(n)
    84.84(a)
      100037391  NM_001089542.1  NP_001083011.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TAF56
    Subunit (90 kDa) of TFIID and SAGA complexes, invo...
    12(a)
    1 → many
    II(616127-618523)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COP11 E3 ubiquitin-protein ligase COP1 51.52(n)
    43.31(a)
      817857  NM_128855.3  NP_180854.1 
    rice
    (Oryza sativa)
    Liliopsida Os.34332 Oryza sativa (japonica cultivar-group) rCOP1 mRNA for more 74.02(n)    AF261992.1 


    ENSEMBL Gene Tree for RFWD2 (if available)
    TreeFam Gene Tree for RFWD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFWD2 gene
    RBBP72  RBBP42  
    11 SIMAP similar genes for RFWD2 using alignment to 8 protein entries:     RFWD2_HUMAN (see all proteins):
    PCGF3    TRIM17    BRCA1    POC1B    TRIM73    RNF4
    TRIM39    TRIM59    TRIM60    SH3RF1    TRIM5

    RFWD2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RFWD2
    PGOHUM00000234981 PGOHUM00000236748


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5209 SNPs in RFWD2 are shown (see all 5209)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162643561,2
    C,F--175913476(+) TTACAG/TAAAAA 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1507089021,2
    C--175913581(+) TGTTTA/TTGTAA 2 -- int10--------
    rs1838826961,2
    --175913714(+) ACTTGC/TTGATG 2 -- int10--------
    rs109131121,2
    C,F,A,H--175913828(+) GTTTAC/TATTGA 2 -- int123Minor allele frequency- N:0.00EA NA NS WA 2444
    rs1136877301,2
    C,F--175913838(+) ATATGC/TGTAAT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1890425571,2
    --175913903(+) GTTCAC/TATATG 2 -- int10--------
    rs1423785751,2
    --175913921(+) TTAAAA/CAGAGT 2 -- int10--------
    rs1132280081,2
    C,F--175913967(+) TCAACC/TGTGGC 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1808405721,2
    --175914066(+) GCAATA/GTCCAT 2 -- ut310--------
    rs10530351,2
    H--175914088(-) TCTCCA/CCCATC 2 -- ut317Minor allele frequency- C:0.01MN NS EA NA 608

    HapMap Linkage Disequilibrium report for RFWD2 (175913967 - 176163967 bp, first 250kb of RFWD2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for RFWD2 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1757113CNV Deletion17803354
    esv2719684CNV Deletion23290073
    esv2719762CNV Deletion23290073
    esv2719751CNV Deletion23290073
    dgv52e201CNV Deletion23290073
    esv2719740CNV Deletion23290073
    esv2576730CNV Deletion19546169
    dgv51e201CNV Deletion23290073
    nsv872565CNV Loss21882294
    nsv872561CNV Loss21882294


    Human Gene Mutation Database (HGMD): RFWD2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608067    OMIM disorders: --

    6 diseases for RFWD2:    About MalaCards
    narcolepsy    myeloid leukemia    hepatocellular carcinoma    adenocarcinoma
    gastric cancer    leukemia


    RFWD2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RFWD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 15994960 (1)

    Genetic Association Database (GAD): RFWD2
    Human Genome Epidemiology (HuGE) Navigator: RFWD2 (2 documents)

    Export disorders for RFWD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RFWD2 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with RFWD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An initial biochemical and cell biological characterization of the mammalian homologue of a central plant developmental switch, COP1. (PubMed id 12466024)1, 2, 9 Yi C.... Deng X.-W. (2002)
    2. Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity. (PubMed id 12615916)1, 2, 9 Bianchi E.... Pardi R. (2003)
    3. COP9 signalosome subunit 6 stabilizes COP1, which fun ctions as an E3 ubiquitin ligase for 14-3-3I8. (PubMed id 21625211)1, 2 Choi H.H....Lee M.H. (2011)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. COP1D, an alternatively spliced constitutive photomorphogenic-1 (COP1) product, stabilizes UV stress-induced c-Jun through inhibition of full-length COP1. (PubMed id 17968316)1, 2 Savio M.G....Pardi R. (2008)
    7. The ubiquitin ligase COP1 is a critical negative regulator of p53. (PubMed id 15103385)1, 2 Dornan D.... Dixit V.M. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Human De-etiolated-1 regulates c-Jun by assembling a CUL4A ubiquitin ligase. (PubMed id 14739464)1, 2 Wertz I.E.... Dixit V.M. (2004)
    10. Evidence for functional conservation of a mammalian homologue of the light-responsive plant protein COP1. (PubMed id 10395541)1, 3 Wang H....Wei N. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64326 HGNC: 17440 AceView: COP1 Ensembl:ENSG00000143207 euGenes: HUgn64326
    ECgene: RFWD2 Kegg: 64326 H-InvDB: RFWD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RFWD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RFWD2 gene:
    Search GeneIP for patents involving RFWD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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