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

RNF217 Gene

protein-coding   GIFtS: 45
GCID: GC06P125347

ring finger protein 217

(Previous names: chromosome 6 open reading frame 172, IBR domain containing...)
(Previous symbols: C6orf172, IBRDC1)
 Explore 3 diseases affiliated with
RNF217 via our new
 Human Malady Compendium 
Biological research products
for RNF217
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ring Finger Protein 2171 2 3     IBR Domain-Containing Protein 12 3
C6orf1721 2 3     MGC269961
IBRDC11 2 3     Chromosome 6 Open Reading Frame 1721
DJ84N20.11     Probable E3 Ubiquitin-Protein Ligase RNF2172
IBR Domain Containing 11 2     EC 6.3.2.-3

External Ids:    HGNC: 214871   Entrez Gene: 1542142   Ensembl: ENSG000001463737   UniProtKB: Q8TC413   

Export aliases for RNF217 gene to outside databases

Previous GC identifer: GC06P122881


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

UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a
thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF217 gene promoter:
         STAT5B   Sox5   STAT1   STAT4   STAT1beta   STAT6   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF217 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF217

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF217


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

Entrez Gene cytogenetic band: 6q22.31   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22.33

RNF217 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF217 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P125347:  view genomic region     (about GC identifiers)

Start:
125,283,691 bp from pter      End:
125,413,779 bp from pter
Size:
130,089 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase RNF217  
Size: 275 amino acids; 31981 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q5TCA4 Q9BX48

Explore the universe of human proteins at neXtProt for RNF217: NX_Q8TC41

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TC41

  • RNF217 Protein expression data from MOPED and PaxDb:    About this image 
    RNF217 Protein Expression
    REFSEQ proteins: NP_689766.1  
    ENSEMBL proteins: 
     ENSP00000428698   ENSP00000429012   ENSP00000427711   ENSP00000357399   ENSP00000352734  
     ENSP00000404282   ENSP00000452812   ENSP00000275184  

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    Uscn Proteins for RNF217

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    RNF217 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RNF217 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002867 Znf_C6HC

    Graphical View of Domain Structure for InterPro Entry Q8TC41

    ProtoNet protein and cluster: Q8TC41

    1 Blocks protein family: IPB002867 Zn-finger

    UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
    Similarity: Belongs to the RBR family. RNF217 subfamily
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 1 RING-type zinc finger


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN217_HUMAN, Q8TC41
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a
    thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0008270zinc ion binding IEA--
         
    RNF217 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRNF217 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF217


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF217

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RNF217 (ENSP000003527344) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA0368ENSP000002593354STRING: ENSP00000259335
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process ISS--

    RNF217 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RNF217
    Search CenterWatch for drugs/clinical trials and news about RNF217 / RN217 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RNF217 gene: 
    NM_152553.2  

    Unigene Cluster for RNF217:

    Ring finger protein 217
    Hs.368639  [show with all ESTs]
    Unigene Representative Sequence: AK122811
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521654 ENST00000519971 ENST00000519565 ENST00000454842 ENST00000519799
    ENST00000368414(uc003pzt.3) ENST00000359704(uc003pzs.3) ENST00000432158
    ENST00000368415 ENST00000560949(uc003pzr.3) ENST00000275184

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    hsa-miR-424 hsa-miR-204 hsa-miR-15a hsa-miR-16 hsa-miR-497 hsa-miR-195 hsa-miR-15b hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidRNF217 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK057943.1 AK093417.1 AK122811.1 BC026087.2 

    7 DOTS entries:

    DT.308701  DT.91703351  DT.97799386  DT.100740023  DT.100683821  DT.100747317  DT.91649449 

    24/56 AceView cDNA sequences (see all 56):

    BC026087 BM718471 AK023584 BM985293 BX118513 BQ024056 NM_152553 BP336690 
    AW469110 AA772709 BM683514 CA436239 CO402490 AI888256 BU752970 BX508707 
    AW195002 AI310440 BG025210 BE891363 BP335386 BG623134 BP335377 AK093417 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RNF217    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                            
    SP2:              -                             -               


    ECgene alternative splicing isoforms for RNF217

    (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

    RNF217 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGCTACACT
    RNF217 Expression
    About this image
    See RNF217 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF217

    SOURCE GeneReport for Unigene cluster: Hs.368639
        SABiosciences Custom PCR Arrays for RNF217

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF217

    (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 RNF217 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RNF2171 ring finger protein 217 80.14(n)
    83.27(a)
      426209  XM_423871.3  XP_423871.3 
    lizard
    (Anolis carolinensis)
    Reptilia RNF2176
    --
    70(a)
    1 ↔ 1
    1(180857204-180902153)
    zebrafish
    (Danio rerio)
    Actinopterygii rnf2171 ring finger protein 217 68.15(n)
    69.64(a)
      567287  NM_001082853.1  NP_001076322.1 
    rice
    (Oryza sativa)
    Liliopsida --
    RWD domain containing protein, expressed
    4(a)
    possible ortholog
    4(29826986-29831282)


    ENSEMBL Gene Tree for RNF217 (if available)
    TreeFam Gene Tree for RNF217 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RNF217 gene
    RNF142  RNF19B2  RNF144A2  RNF19A2  RNF144B2  
    18/63 SIMAP similar genes for RNF217 using alignment to 7 protein entries:     RN217_HUMAN (see all proteins) (see all similar genes):
    IBRDC1    DCTN5    EML2    C18orf8    PLA2G6    SH3PXD2A
    C4orf21    AURA2    LYRM4    PKN1    CFLAR    SHANK2
    ZNF212    ATP6V0A1    LAMB4    TMEM14B    TCEB1    ZDHHC20

    RNF217 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1669 NCBI SNPs in RNF217 are shown (see all 1669    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs798760991,2
    F--125302608(+) GTTTGG/ATTGGG 1 -- us2k11Minor allele frequency- A:0.14WA 118
    rs1484112931,2
    --125302618(+) GGGGGC/TGGTGA 1 -- us2k10--------
    rs1429556501,2
    --125302682(+) GATCAA/GCCATT 1 -- us2k10--------
    rs1120112771,2
    --125302732(+) TTTTTC/ACATAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1900156451,2
    --125302822(+) AGATAC/G/TGCTAT 1 -- us2k10--------
    rs131978041,2
    C,F--125302835(+) TATATT/CGCCAG 1 -- us2k19Minor allele frequency- C:0.27NA WA CSA EA 370
    rs1131613231,2
    --125302872(+) ATAGAG/ATAAAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs122126921,2
    A--125303007(+) aaaatA/Ccaaaa 1 -- us2k10--------
    rs1919597911,2
    --125303030(+) TTGGCC/TGGGCG 1 -- us2k10--------
    rs69126981,2
    C,F,A,H--125303035(+) CGGGCG/ATGGTT 1 -- us2k17Minor allele frequency- A:0.24NA CSA WA EA 366

    HapMap Linkage Disequilibrium report for RNF217 (125283691 - 125413779 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RNF217
         1 Indel: 59291

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RNF217 for disorders           About GeneDecksing

    3 diseases for RNF217:    About MalaCards
    cleft lip/palate    cleft lip    malaria

    Human Genome Epidemiology (HuGE) Navigator: RNF217 (2 documents)

    Export disorders for RNF217 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 RNF217 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RNF217)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1 Gorbea C.... Rechsteiner M. (2010)
    6. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 154214 HGNC: 21487 AceView: IBRDC1 Ensembl:ENSG00000146373 euGenes: HUgn154214
    ECgene: RNF217 H-InvDB: RNF217

    (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 RNF217 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 RNF217 gene:
    Search GeneIP for patents involving RNF217

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    von Willebrand factor
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