Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RNF213 Gene

protein-coding   GIFtS: 55
GCID: GC17P078235

Ring Finger Protein 213

(Previous names: chromosome 17 open reading frame 27, KIAA1618, moyamoya...)
(Previous symbols: C17orf27, KIAA1618, MYMY2)
  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

TryGeneCards Plus

Aliases
Ring Finger Protein 2131 2 3     Moyamoya Disease 21
KIAA16181 2 3 5     NET572
C17orf271 2 3     E3 Ubiquitin-Protein Ligase RNF2132
MYMY21 2 5     mysterin2
ALO172 3 5     EC 6.3.2.-3
MYSTR2 3     KIAA15543
ALK Lymphoma Oligomerization Partner On Chromosome 172 3     Mysterin3
Chromosome 17 Open Reading Frame 271     

External Ids:    HGNC: 145391   Entrez Gene: 576742   Ensembl: ENSG000001738217   OMIM: 6137685   UniProtKB: Q63HN83   

Export aliases for RNF213 gene to outside databases

Previous GC identifers: GC17P075929 GC17P078313 GC17P073677


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

TryGeneCards Plus

Entrez Gene summary for RNF213 Gene:
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger
that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein
also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for
Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in
anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25)
translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a
t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Dec 2011)

GeneCards Summary for RNF213 Gene:
RNF213 (ring finger protein 213) is a protein-coding gene. Diseases associated with RNF213 include moyamoya disease, and anaplastic large cell lymphoma. GO annotations related to this gene include ATPase activity and nucleotide binding.

UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
Function: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase
activity

Gene Wiki entry for RNF213 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF213 gene promoter:
         HOXA9B   HOXA9   Max1   GR   Sp1   GR-beta   C/EBPalpha   FOXC1   GR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RNF213 promoter sequence
   Search Chromatin IP Primers for RNF213

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF213


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

RNF213 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF213 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078235:  view genomic region     (about GC identifiers)

Start:
78,234,665 bp from pter      End:
78,372,586 bp from pter
Size:
137,922 bases      Orientation:
plus strand

(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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF213  
Size: 5207 amino acids; 591407 Da
Sequence caution: Sequence=AAH32220.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB13444.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAB14708.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15212.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB15280.1; Type=Erroneous termination;
Positions=4257; Note=Translated as Gln; Sequence=BAB15330.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAH10615.1; Type=Frameshift; Positions=211, 213, 221, 266; Sequence=CAH56189.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: C9JCP4 D6RI12 F8WKS1 Q658P6 Q69YK7 Q6MZR1 Q8IWF4 Q8IZX1 Q8IZX2 Q8N406
Q8TEU0 Q9H6C9 Q9H6H9 Q9H6P3 Q9H8A9 Q9HCF4 Q9HCL8
Alternative splicing: 4 isoforms:  Q63HN8-3   Q63HN8-4   Q63HN8-5   Q63HN8-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF213: NX_Q63HN8

Explore proteomics data for RNF213 at MOPED

Post-translational modifications: 

  • Autoubiquitinates1
  • Ubiquitination2 at Lys412, Lys605, Lys1079, Lys1223, Lys1520, Lys2003, Lys2136, Lys2367, Lys2447, Lys2800,
                                 Lys2893, Lys2915, Lys2990, Lys3019, Lys3255, Lys3517, Lys3876, Lys3982, Lys4005, Lys4297 (see all 23)
  • Modification sites at PhosphoSitePlus

  • See RNF213 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243000.2  NP_066005.2  

    ENSEMBL proteins: 
     ENSP00000425956   ENSP00000464087   ENSP00000324392   ENSP00000460462   ENSP00000392123  
     ENSP00000338218  

    RNF213 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RNF213
    OriGene Protein Over-expression Lysate for RNF213
    OriGene MassSpec for RNF213
    OriGene Custom Protein Services for RNF213
    GenScript Custom Purified and Recombinant Proteins Services for RNF213
    Novus Biologicals RNF213 Proteins
    Novus Biologicals RNF213 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RNF213

    RNF213 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for RNF213
    OriGene Custom Antibody Services for RNF213
    Novus Biologicals RNF213 Antibodies
    Abcam antibodies for RNF213
    Cloud-Clone Corp. Antibodies for RNF213
    ThermoFisher Antibodies for RNF213
    LSBio Antibodies in human, mouse, rat for RNF213

    RNF213 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RNF213
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RNF213
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RNF213
    Cloud-Clone Corp. CLIAs for RNF213


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

    TryGeneCards Plus
    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     IPR001841 Znf_RING
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q63HN8

    ProtoNet protein and cluster: Q63HN8

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
    Domain: The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity
    Similarity: Contains 1 RING-type zinc finger


    RNF213 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN213_HUMAN, Q63HN8
    Function: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase
    activity

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding ----
    GO:0005524ATP binding ----
    GO:0008270zinc ion binding IEA--
         
    RNF213 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for RNF213:
     G2 arrest  Increased G2M DNA content  Synthetic lethal with paclitax 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF213
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RNF213

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNF213
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RNF213

    miRNA
    Products:
        
    miRTarBase miRNAs that target RNF213:
    hsa-mir-335-5p (MIRT016943), hsa-mir-423-3p (MIRT042649), hsa-mir-10a-5p (MIRT047742), hsa-mir-1 (MIRT005280), hsa-mir-99b-5p (MIRT044202)

    Block miRNA regulation of human, mouse, rat RNF213 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RNF213 (see all 18):
    hsa-miR-15a hsa-miR-449a hsa-miR-424 hsa-miR-124 hsa-miR-558 hsa-miR-506 hsa-miR-195 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidRNF213 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RNF213
    Predesigned siRNA for gene silencing in human, mouse, rat RNF213

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RNF213

    Clone
    Products:
         
    OriGene clones in human, mouse for RNF213 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RNF213 (NM_020954)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNF213
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF213

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RNF213
    Browse ESI BIO Cell Lines and PureStem Progenitors for RNF213 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF213


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RN213_HUMAN, Q63HN8: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    RNF213 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).
    About This Section

    TryGeneCards Plus



    UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RNF213
    Interactions:

        Search GeneGlobe Interaction Network for RNF213

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

    2 Interacting proteins for RNF213 (Q63HN83 ENSP000003382184) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MCRS1Q96EZ83I2D: score=1 
    --ensp: ENSP000003243924STRING: ensp: ENSP00000324392
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA--
    GO:0016567protein ubiquitination IDA--
    GO:0051865protein autoubiquitination IDA--

    RNF213 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNF213 (RN213)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for RNF213 gene (3 alternative transcripts): 
    NM_001256071.2  NM_020954.3  NM_020914.4  

    Unigene Cluster for RNF213:

    Ring finger protein 213
    Hs.195642  [show with all ESTs]
    Unigene Representative Sequence: BX647946
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000508628 ENST00000582970(uc002jyh.2 uc021uen.1) ENST00000319921(uc002jyf.3)
    ENST00000559070(uc002jyg.1) ENST00000573548 ENST00000574060 ENST00000571908
    ENST00000558116 ENST00000560694 ENST00000558488 ENST00000559603 ENST00000411702
    ENST00000573038 ENST00000559864 ENST00000574909 ENST00000572622 ENST00000427003
    ENST00000570776
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RNF213 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RNF213 (see all 18):
    hsa-miR-15a hsa-miR-449a hsa-miR-424 hsa-miR-124 hsa-miR-558 hsa-miR-506 hsa-miR-195 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidRNF213 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RNF213
    Predesigned siRNA for gene silencing in human, mouse, rat RNF213
    Clone
    Products:
         
    OriGene clones in human, mouse for RNF213 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RNF213 (NM_020954)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNF213
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF213
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RNF213
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RNF213
      QuantiTect SYBR Green Assays in human, mouse, rat RNF213
      QuantiFast Probe-based Assays in human, mouse, rat RNF213

    Additional mRNA sequence: 

    AB046774.1 AK023871.1 AK025676.1 AK025914.1 AK026038.1 AK074030.1 AK127358.1 AK130239.1 
    AL833201.1 BC032220.1 BX640932.1 BX647946.1 

    Selected DOTS entries (see all 33):

    DT.91848111  DT.447919  DT.406466  DT.95295507  DT.97826493  DT.95295580  DT.120997484  DT.100010838 
    DT.91701159  DT.106896  DT.95221882  DT.100745287  DT.40189773  DT.91819678  DT.92454782  DT.95124682 
    DT.95295572  DT.95365281  DT.120997554  DT.92454778  DT.95359168  DT.100797846  DT.101983277  DT.120997437 

    2 AceView cDNA sequences:

    BI019105 BI049835 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    RNF213 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCACCAG
    RNF213 Expression
    About this image


    RNF213 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Spleen (Hematopoietic System)
    RNF213 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF213 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.195642

    UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
    Tissue specificity: Widely expressed (at protein level)

        Custom PCR Arrays for RNF213
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RNF213
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RNF213
    QuantiTect SYBR Green Assays in human, mouse, rat RNF213
    QuantiFast Probe-based Assays in human, mouse, rat RNF213
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF213

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for RNF213 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf2131 ring finger protein 213 73.27(n)
    67.77(a)
      672511  XM_006534630.1  XP_006534693.1 
    chicken
    (Gallus gallus)
    Aves RNF2131 ring finger protein 213 60.96(n)
    53.7(a)
      422080  XM_004946278.1  XP_004946335.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    64(a)
    60(a)
    many → 1
    many → 1
    GL344242.1(608-48147)
    2(100362209-100436514)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480423552   -- 77.88(n)    48042355 
    zebrafish
    (Danio rerio)
    Actinopterygii rnf213a1 ring finger protein 213a 54.84(n)
    47.68(a)
      503775  XM_001920995.4  XP_001921030.4 


    ENSEMBL Gene Tree for RNF213 (if available)
    TreeFam Gene Tree for RNF213 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for RNF213 (see all 2751)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0670304
    Moyamoya disease 2 (MYMY2)4--see VAR_0670302 R K mis40--------
    rs1486365551,2
    --78232800(+) ATTTCA/GACTAG 2 -- us2k10--------
    rs1421339211,2
    C--78232972(+) GTTCTA/C/GAAGTG 2 -- us2k10--------
    rs1173435251,2
    F--78232992(+) CTGGGC/TGCAGT 2 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1834409731,2
    --78233031(+) GGAGGC/TCAAGG 2 -- us2k10--------
    rs1510785211,2
    C--78233069(+) TGAGAC/TCACCC 2 -- us2k10--------
    rs1870200041,2
    --78233070(+) GAGACA/CACCCT 2 -- us2k10--------
    rs1919367611,2
    --78233133(+) TTGGTA/GGCGGG 2 -- us2k10--------
    rs1399064681,2
    --78233160(+) TACTCA/GGGAGG 2 -- us2k10--------
    rs356928311,2
    C--78233282(+) AACAAT/CAAATA 2 -- us2k15Minor allele frequency- C:0.28NA WA EA 362

    HapMap Linkage Disequilibrium report for RNF213 (78234665 - 78372586 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RNF213 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2473168CNV Deletion19546169
    esv2311590CNV Deletion18987734
    esv2716373CNV Deletion23290073
    dgv471e201CNV Deletion23290073
    esv2716371CNV Deletion23290073
    esv2166847CNV Deletion18987734
    esv2716377CNV Deletion23290073
    nsv821604CNV Deletion20802225
    esv2716376CNV Deletion23290073
    esv2716370CNV Deletion23290073

    Human Gene Mutation Database (HGMD): RNF213
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF213
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF213

    (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

    TryGeneCards Plus
    OMIM gene information: 613768   
    OMIM disorders: 607151  
    UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
  • Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral
    intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal
    vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient
    ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial
    hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in
    childhood, while subarachnoid bleeding occurs more frequently in adults. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL).
    Translocation t(2;17)(p23;q25) with ALK

  • 9 diseases for RNF213:    
    About MalaCards
    moyamoya disease    anaplastic large cell lymphoma    inflammatory myofibroblastic tumor    hemiplegia
    autism spectrum disorder    cerebritis    hiv-1    multiple myeloma
    myeloma

    1 disease from the University of Copenhagen DISEASES database for RNF213:
    Moyamoya disease

    RNF213 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF213
    Human Genome Epidemiology (HuGE) Navigator: RNF213 (1 document)

    Export disorders for RNF213 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

    TryGeneCards Plus

    PubMed articles for RNF213 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with RNF213)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. (PubMed id 21048783)1, 2, 3, 4 Kamada F.... Kure S. (J. Hum. Genet. 2011)
    2. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. (PubMed id 21799892)1, 2, 3 Liu W....Koizumi A. (PLoS ONE 2011)
    3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)1, 2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    5. Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)1, 2 Han G.... Gu J. (Proteomics 2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)1, 2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (Nature 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. (PubMed id 12112524)1, 2 Cools J.... Marynen P. (Genes Chromosomes Cancer 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 57674 HGNC: 14539 AceView: C17orf27 Ensembl:ENSG00000173821 euGenes: HUgn57674
    ECgene: RNF213 H-InvDB: RNF213

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1618 KIAA1554

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RNF213 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RNF213 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for RNF213 gene:
    Search GeneIP for patents involving RNF213

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for RNF213   OriGene RNAi products in human, mouse, rat for RNF213  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for RNF213  
     OriGene MassSpec something-or-other for RNF213   OriGene clones in human, mouse for RNF213  
     OriGene qSTAR qPCR primer pairs in human, mouse for RNF213   OriGene Purified Protein for RNF213  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RNF213   OriGene Custom Protein Services for RNF213  

     
     
     Block miRNA regulation of human, mouse, rat RNF213 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RNF213
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF213 Predesigned siRNA for gene silencing in human, mouse, rat RNF213
     QuantiFast Probe-based Assays in human, mouse, rat RNF213 QuantiTect SYBR Green Assays in human, mouse, rat RNF213
     Custom PCR Arrays for RNF213 Search Chromatin IP Primers for RNF213
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RNF213  Search GeneGlobe Interaction Network for RNF213
     Regulatory tfbs in RNF213 promoter
     GenScript Custom Purified and Recombinant Proteins Services for RNF213 GenScript cDNA clones with any tag delivered in your preferred vector for RNF213
     GenScript Custom Assay Services for RNF213 GenScript Custom overexpressing Cell Line Services for RNF213
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RNF213 (RN213)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RNF213 antibodies
     RNF213 proteins
     RNF213 lysates
     Antibodies for RNF213
     See all of Abcam's Antibodies, Kits and Proteins for RNF213
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for RNF213
     Antibodies for RNF213
     ELISAs for RNF213
     CLIAs for RNF213



     Browse ESI BIO Cell Lines and PureStem Progenitors for RNF213
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF213
     SwitchGear 3'UTR luciferase reporter plasmids for RNF213
     SwitchGear Promoter luciferase reporter plasmids for RNF213
     ThermoFisher Antibodies for RNF213
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF213
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF213
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RNF213
     LSBio Antibodies in human, mouse, rat for RNF213
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RNF213 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4