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RNF216 Gene

protein-coding   GIFtS: 57
GCID: GC07M005661

Ring Finger Protein 216

  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)
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Aliases
Ring Finger Protein 2161 2 3     UBCE7IP12 3
TRIAD32 3 5     CAHH2 5
ZIN2 3 5     U7I12
Triad Domain-Containing Protein 32 3     E3 Ubiquitin-Protein Ligase RNF2162
Ubiquitin-Conjugating Enzyme 7-Interacting Protein 12 3     EC 6.3.2.-3
Zinc Finger Protein Inhibiting NF-Kappa-B2 3     

External Ids:    HGNC: 216981   Entrez Gene: 544762   Ensembl: ENSG000000112757   OMIM: 6099485   UniProtKB: Q9NWF93   

Export aliases for RNF216 gene to outside databases

Previous GC identifer: GC07M005627


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNF216 Gene:
This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine
protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for
its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded
protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating
enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for
this locus but the full-length natures of only some are known. (provided by RefSeq, Jul 2008)

GeneCards Summary for RNF216 Gene:
RNF216 (ring finger protein 216) is a protein-coding gene. Diseases associated with RNF216 include cerebellar ataxia and hypogonadotropic hypogonadism, and hypogonadotropism. GO annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9
Function: Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating
enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation
of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of
NF-kappa-B, IRF3 activation and IFNB production. Isoform 3/ZIN inhibits TNF and IL-1 mediated activation of
NF-kappa-B. Promotes TNF and RIP mediated apoptosis

Gene Wiki entry for RNF216 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF216 gene promoter:
         FOXF2   MAZR   NF-YA   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RNF216 promoter sequence
   Search Chromatin IP Primers for RNF216

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF216


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

Entrez Gene cytogenetic band: 7p22.1   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.1

RNF216 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF216 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M005661:  view genomic region     (about GC identifiers)

Start:
5,659,672 bp from pter      End:
5,821,370 bp from pter
Size:
161,699 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 5,706,017-5,867,706     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF216  
Size: 866 amino acids; 99406 Da
Subunit: Interacts with UBE2L3 and to some extent with UBE2L6. Interacts with TRAF3, TLR3, TLR4, TLR5 and TLR9.
Isoform 3/ZIN binds RIPK1 and HIV VIF
Sequence caution: Sequence=BAA91422.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6Y691 Q75ML7 Q7Z2H7 Q7Z7C1 Q8NHW7 Q9NYT1
Alternative splicing: 3 isoforms:  Q9NWF9-2   Q9NWF9-1   Q9NWF9-3   (4 different alternatively spliced mRNAs code for this protein isoform)

Explore the universe of human proteins at neXtProt for RNF216: NX_Q9NWF9

Explore proteomics data for RNF216 at MOPED

Post-translational modifications: 

  • Auto-ubiquitinated1
  • Ubiquitination2 at Lys408, Lys411, Lys419, Lys448, Lys482, Lys611, Lys641, Lys676, Lys715, Lys723,
                                 Lys830
  • Modification sites at PhosphoSitePlus

  • See RNF216 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_996994.1  NP_996999.1  

    ENSEMBL proteins: 
     ENSP00000404602   ENSP00000374552   ENSP00000374550   ENSP00000409837   ENSP00000396829  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    1 InterPro protein domain:
     IPR002867 Znf_C6HC

    Graphical View of Domain Structure for InterPro Entry Q9NWF9

    ProtoNet protein and cluster: Q9NWF9

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB002867 Zn-finger


    UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9
    Domain: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity)
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 2 RING-type zinc fingers


    RNF216 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN216_HUMAN, Q9NWF9
    Function: Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating
    enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation
    of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of
    NF-kappa-B, IRF3 activation and IFNB production. Isoform 3/ZIN inhibits TNF and IL-1 mediated activation of
    NF-kappa-B. Promotes TNF and RIP mediated apoptosis

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12600646
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    RNF216 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RNF216:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF216
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    Selected qRT-PCR Assays for microRNAs that regulate RNF216 (see all 54):
    hsa-miR-520e hsa-miR-302d hsa-miR-300 hsa-miR-4328 hsa-miR-199a-3p hsa-miR-301a hsa-miR-519a hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidRNF216 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RN216_HUMAN, Q9NWF9: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    RNF216 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RNF216 About    
    See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    2Gastric cancer network 1
    Gastric cancer network 1

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RNF216
        Toll-Like Receptors Pathway

    2 BioSystems Pathways for RNF216
        Gastric cancer network 1
    TNF-alpha/NF-kB Signaling Pathway


    UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF216: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RNF216

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for RNF216 (Q9NWF91, 2, 3 ENSP000003745524) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF11Q9Y3C52, 3MINT-60865 I2D: score=2 
    TLR9Q9NR963, ENSP000003538744I2D: score=3 STRING: ENSP00000353874
    KIR2DL4Q997063, ENSP000003396344I2D: score=2 STRING: ENSP00000339634
    TIRAPP587533, ENSP000003764454I2D: score=2 STRING: ENSP00000376445
    UBE2L6O149333, ENSP000002871564I2D: score=2 STRING: ENSP00000287156
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0032648regulation of interferon-beta production IDA19893624
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process IDA19893624

    RNF216 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNF216 (RN216)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RNF216 gene (3 alternative transcripts): 
    NM_207111.3  NM_207116.2  NM_019011.4  

    Unigene Cluster for RNF216:

    Ring finger protein 216
    Hs.487458  [show with all ESTs]
    Unigene Representative Sequence: NM_207111
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425013(uc010ksz.2 uc010kta.2 uc003sox.2 uc003soy.2 uc011jwj.2)
    ENST00000389902 ENST00000389900 ENST00000469375 ENST00000484458(uc003spa.1)
    ENST00000479541 ENST00000411812 ENST00000416985 ENST00000476345(uc003spb.3)

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    Selected qRT-PCR Assays for microRNAs that regulate RNF216 (see all 54):
    hsa-miR-520e hsa-miR-302d hsa-miR-300 hsa-miR-4328 hsa-miR-199a-3p hsa-miR-301a hsa-miR-519a hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidRNF216 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat RNF216

    Additional mRNA sequence: 

    AF228527.1 AF513717.1 AF513718.1 AK000916.1 AK024787.1 AK092767.1 AK123635.1 AK292396.1 
    AK297231.1 AK297416.1 AK314332.1 AY062174.1 AY177396.1 AY177397.1 AY177398.1 BC000787.2 
    BC004947.1 BC063825.1 BX537406.1 

    16 DOTS entries:

    DT.100822416  DT.95119108  DT.101984488  DT.100822412  DT.97839502  DT.121115404  DT.40129927  DT.97811158 
    DT.100009747  DT.100717603  DT.75102250  DT.91757544  DT.92048653  DT.95226826  DT.121115379  DT.40297166 

    Selected AceView cDNA sequences (see all 329):

    BG254095 AI024605 AA912708 AI018503 CA436370 AA804908 F08909 AA746299 
    BE350347 AA278262 CK429258 BU785403 AW207120 BM817557 AI380539 AI916761 
    AI223829 F11246 AK093275 BQ212689 BU187037 BX097482 AI024759 BF055141 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RNF216 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
    SP1:                                      -                       -           -                                                                                 
    SP2:                                                                                                                    -     -                 -               
    SP3:                                                                                                                                                            
    SP4:        -     -     -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 21a · 21b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for RNF216

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RNF216 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RNF216 Expression
    About this image


    RNF216 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    RNF216 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF216 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487458

    UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9
    Tissue specificity: Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF216: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF216

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RNF216 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf2161 , 5 ring finger protein 2161, 5 87.36(n)1
    87.8(a)1
      5 (81.86 cM)5
    1080861  NM_207110.11  NP_996993.11 
     1429908935 
    chicken
    (Gallus gallus)
    Aves RNF2161 ring finger protein 216 68.53(n)
    65.24(a)
      416486  XM_414793.4  XP_414793.4 
    lizard
    (Anolis carolinensis)
    Reptilia RNF2166
    ring finger protein 216
    68(a)
    1 ↔ 1
    GL343725.1(33941-97010)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37422 Xenopus laevis transcribed sequence with weak similarity more 75.19(n)    BJ616422.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.68752 Transcribed sequence with weak similarity to protein more 75.57(n)    57061962 


    ENSEMBL Gene Tree for RNF216 (if available)
    TreeFam Gene Tree for RNF216 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF216 gene
    5 SIMAP similar genes for RNF216 using alignment to 4 protein entries:     RN216_HUMAN (see all proteins):
    RNF216P1    ZNF738    NSRP1    ZNF83    RARS2

    RNF216 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RNF216
    PGOHUM00000260295


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RNF216 (see all 4142)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700484
    Cerebellar ataxia and hypogonadotropic hypogonadism (CAHH)4--see VAR_0700482 R C mis40--------
    VAR_0700494
    Cerebellar ataxia and hypogonadotropic hypogonadism (CAHH)4--see VAR_0700492 R C mis40--------
    rs1384681161,2
    --5630306(+) GTAGCA/GGGGCC 2 -- ds50010--------
    rs1440290021,2
    --5630368(+) TCTCAA/GCCCAG 2 -- ds50010--------
    rs1147987211,2
    C,F--5630393(+) TGGAAA/C/TCTTGT 2 -- ds50011WA 118
    rs733362241,2
    C,F--5630405(+) CCCTCC/TTCAGC 2 -- ds50013Minor allele frequency- T:0.06WA CSA 122
    rs8524431,2
    C,F,H--5630473(-) TTCTTT/CTGCAG 2 -- ds500112Minor allele frequency- C:0.02NS EA NA 1616
    rs1179800911,2
    F--5630502(+) GCAGGG/AGATTC 2 -- ds50011Minor allele frequency- A:0.01EA 120
    rs733362271,2
    C,F--5630565(+) CCTAGC/TGGGAT 2 -- ds50013Minor allele frequency- T:0.06WA CSA 122
    rs1908391151,2
    C--5630589(+) CACCTC/GATCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for RNF216 (5659672 - 5821370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RNF216 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665342CNV Deletion23128226
    esv2733915CNV Deletion23290073
    nsv436904CNV Insertion17901297
    nsv830890CNV Loss17160897
    dgv7143n71CNV Loss21882294
    nsv887418CNV Loss21882294
    dgv402n21CNV Loss19592680
    dgv7142n71CNV Loss21882294
    nsv887420CNV Gain21882294
    nsv471315CNV Gain18288195

    Human Gene Mutation Database (HGMD): RNF216
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RNF216
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF216

    (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.)
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    OMIM gene information: 609948   
    OMIM disorders: 212840  
    UniProtKB/Swiss-Prot: RN216_HUMAN, Q9NWF9
  • Cerebellar ataxia and hypogonadotropic hypogonadism (CAHH) [MIM:212840]: A disease characterized by
    cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem
    atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary
    sexual characteristics, and infertility. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 10 diseases for RNF216:    
    About MalaCards
    cerebellar ataxia and hypogonadotropic hypogonadism    hypogonadotropism    dementia    obesity
    ataxia    tonsillitis    hiv-1    thyroiditis
    cerebritis    endotheliitis


    RNF216 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF216
    Human Genome Epidemiology (HuGE) Navigator: RNF216 (3 documents)

    Export disorders for RNF216 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)
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    PubMed articles for RNF216 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with RNF216)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ring finger protein ZIN interacts with human immunodeficiency virus type 1 Vif. (PubMed id 15367624)1, 2, 9 Feng F.... Li P. (J. Virol. 2004)
    2. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (PubMed id 23656588)1, 2 Margolin D.H....Seminara S.B. (N. Engl. J. Med. 2013)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The E3 ubiquitin ligase Triad3A negatively regulates the RIG-I/MAVS signaling pathway by targeting TRAF3 for degradation. (PubMed id 19893624)1, 2 Nakhaei P.... Hiscott J. (PLoS Pathog. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (Genome Res. 2004)
    7. Triad3A, an E3 ubiquitin-protein ligase regulating Toll-like receptors. (PubMed id 15107846)1, 2 Chuang T.-H. and Ulevitch R.J. (Nat. Immunol. 2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. A novel zinc finger protein interacts with receptor-interacting protein (RIP) and inhibits tumor necrosis factor (TNF)- and IL1- induced NF-kappa B activation. (PubMed id 11854271)1, 2 Chen D.... Shu H.-B. (J. Biol. Chem. 2002)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 54476 HGNC: 21698 AceView: RBAK Ensembl:ENSG00000011275 euGenes: HUgn54476
    ECgene: RNF216 H-InvDB: RNF216

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RNF216 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF216 gene:
    Search GeneIP for patents involving RNF216

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



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