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

RNF212 Gene

protein-coding   GIFtS: 45
GCID: GC04M001057

Ring Finger Protein 212

(Previous name: hypothetical protein LOC285498)
(Previous symbol: LOC285498)
  See related disease
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 Protein 2121 2 3
ZHP32 5
LOC2854981
Hypothetical Protein LOC2854981
Probable E3 SUMO-Protein Ligase RNF2122
EC 6.3.2.-3

External Ids:    HGNC: 277291   Entrez Gene: 2854982   Ensembl: ENSG000001782227   OMIM: 6120415   UniProtKB: Q495C13   

Export aliases for RNF212 gene to outside databases


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

Entrez Gene summary for RNF212 Gene:
This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be
involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms
in this gene may influence recombination rates. Alternate splicing results in multiple transcript
variants.(provided by RefSeq, Oct 2010)

GeneCards Summary for RNF212 Gene: 
RNF212 (ring finger protein 212) is a protein-coding gene. Diseases associated with RNF212 include recombination rate qtl 1. GO annotations related to this gene include zinc ion binding.

UniProtKB/Swiss-Prot: RN212_HUMAN, Q495C1
Function: Key regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation
of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific
recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May act as a SUMO E3 ligase
that mediates sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination
sites. Acts as a limiting factor for crossover designation and/or reinforcement (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_037622.5  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF212 gene promoter:
         SRF   Tal-1   AP-1   SRF (504 AA)   E4BP4   E47   c-Ets-1   FOXO1a   ZID   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF212 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF212

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF212


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

RNF212 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF212 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M001057:  view genomic region     (about GC identifiers)

Start:
1,050,038 bp from pter      End:
1,107,352 bp from pter
Size:
57,315 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: RN212_HUMAN, Q495C1 (See protein sequence)
Recommended Name: Probable E3 SUMO-protein ligase RNF212  
Size: 297 amino acids; 33365 Da
Subcellular location: Nucleus (By similarity). Chromosome (By similarity). Note=Associates to the synaptonemal
complex. Localizes to a minority of double-strand breaks (DSBs) sites. Marks crossover sites during midpachynema
(By similarity)
Secondary accessions: C9J8N0 Q495C0 Q86W82 Q8IY99 Q8N8U7
Alternative splicing: 6 isoforms:  Q495C1-1   Q495C1-2   Q495C1-3   Q495C1-4   Q495C1-5   Q495C1-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF212: NX_Q495C1

Explore proteomics data for RNF212 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q495C1

  • RNF212 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RNF212 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001124506.1  NP_001180247.1  NP_919420.1  

    ENSEMBL proteins: 
     ENSP00000425843   ENSP00000372428   ENSP00000389709   ENSP00000426115   ENSP00000423030  
     ENSP00000423560   ENSP00000327481  

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    Cloud-Clone Corp. Proteins for RNF212 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000795colocalizes with synaptonemal complex ISS--

    RNF212 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

    2 InterPro protein domains:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING

    Graphical View of Domain Structure for InterPro Entry Q495C1

    ProtoNet protein and cluster: Q495C1

    UniProtKB/Swiss-Prot: RN212_HUMAN, Q495C1
    Similarity: Contains 1 RING-type zinc finger


    RNF212 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: RN212_HUMAN, Q495C1
    Function: Key regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation
    of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific
    recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May act as a SUMO E3 ligase
    that mediates sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination
    sites. Acts as a limiting factor for crossover designation and/or reinforcement (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    RNF212 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rnf212):
     reproductive system 

    RNF212 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rnf212tm1Nhtr for RNF212

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RNF212 
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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



    UniProtKB/Swiss-Prot: RN212_HUMAN, Q495C1
    Pathway: Protein modification; protein sumoylation

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF212

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

    1 Interacting protein for RNF212 (ENSP000003897094) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006311meiotic gene conversion ISS--
    GO:0007131reciprocal meiotic recombination ISS--
    GO:0016925protein sumoylation IEA--

    RNF212 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RNF212 (RN212)

    Search CenterWatch for drugs/clinical trials and news about RNF212 / RN212

    (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 RNF212 gene (3 alternative transcripts): 
    NM_001131034.3  NM_001193318.2  NM_194439.4  

    Unigene Cluster for RNF212:

    Ring finger protein 212
    Hs.248290  [show with all ESTs]
    Unigene Representative Sequence: XR_171443
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514024(uc021xkg.1) ENST00000503206 ENST00000514757 ENST00000505693
    ENST00000508633 ENST00000506730 ENST00000382968(uc003gci.3 uc003gcj.3 uc010ibp.3 uc010ibq.3)
    ENST00000433731 ENST00000511620 ENST00000508428 ENST00000510715 ENST00000512552
    ENST00000333673(uc021xkh.1) ENST00000454487 ENST00000505730
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK096160.1 BC036250.1 BC050356.1 BC101258.1 BC101259.1 BC101260.1 XR_171443.1 

    9 DOTS entries:

    DT.91800822  DT.75148311  DT.101957909  DT.95108098  DT.121263249  DT.121263237  DT.99992920  DT.100009409 
    DT.95281596 

    24/33 AceView cDNA sequences (see all 33):

    NM_194439 AI859750 AK096160 CR620687 AW195334 CK822262 AK124578 AI203909 
    BQ931991 BM312986 AW105133 BQ185774 BC050356 BG701603 BF510048 AL535800 
    AA902488 BI460105 AA740318 AA812722 AA813338 BU728567 BG196869 BC036250 

    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™, 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

    RNF212 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTCAGCTC
    RNF212 Expression
    About this image


    See RNF212 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF212

    SOURCE GeneReport for Unigene cluster: Hs.248290
        SABiosciences Expression via Pathway-Focused PCR Array including RNF212: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF212

    (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 animals.

    Orthologs for RNF212 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf2121 , 5 ring finger protein 2121, 5 80.19(n)1
    73.91(a)1
      5 (53.24 cM)5
    6715641  XM_001476621.41  XP_001476671.41 
     1087316615 
    chicken
    (Gallus gallus)
    Aves LOC1008598591 RING finger protein 212-like 66.67(n)
    58.64(a)
      100859859  XM_003641259.1  XP_003641307.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BX005356.36
    Uncharacterized protein
    19(a)
    1 ↔ 1
    14(15230393-15248648)
    worm
    (Caenorhabditis elegans)
    Secernentea D1081.96
    zhp-36
    Protein ZHP-3, isoform a
    15(a)
    10(a)
    many ↔ many
    many ↔ many
    I(8485810-8487043)
    I(8529381-8531338)


    ENSEMBL Gene Tree for RNF212 (if available)
    TreeFam Gene Tree for RNF212 (if available)

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

    (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

    UniProtKB/Swiss-Prot: RN212_HUMAN, Q495C1
    Polymorphism: Genetic variations in RNF212 influence recombination rate, designated recombination rate
    quantitative trait locus 1 (RRQTL1) [MIM:612042] (PubMed:18239089)


    10/1155 SNPs in RNF212 are shown (see all 1155)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422286671,2
    Cuntested11066770(+) AAGACA/GGCCCT 3 A syn1 ut310--------
    rs1915372901,2
    --1064832(+) TTTTTC/TAAATA 2 -- ds50010--------
    rs68272061,2
    C,F,A,H--1065071(+) TTTTTT/AAAATA 2 -- ds500112Minor allele frequency- A:0.20NS EA NA WA 788
    rs1816306631,2
    --1065076(+) AAAATA/GCTATT 2 -- ds50010--------
    rs1867613301,2
    C--1065088(+) TTACAA/G/TTTTTT 2 -- ds50010--------
    rs126452891,2
    C,H--1065210(+) gaattC/Ttgttc 2 -- ds50016Minor allele frequency- T:0.00NS EA NA 412
    rs1913065531,2
    --1065292(+) TATCTC/GATAAG 2 -- ut310--------
    rs784981931,2
    C--1065413(+) TACCTA/TAACAG 2 -- ut310--------
    rs1459907061,2
    C--1065480(+) TATGTC/TATCAA 2 -- ut310--------
    rs799988571,2
    C--1065486(+) ATCAAT/CGAAAT 2 -- ut312Minor allele frequency- C:0.10CSA WA 119

    HapMap Linkage Disequilibrium report for RNF212 (1050038 - 1107352 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for RNF212 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726753CNV Deletion23290073
    esv1191684CNV Deletion17803354
    esv2726752CNV Deletion23290073
    dgv848e201CNV Deletion23290073
    esv2726750CNV Deletion23290073
    esv1505561CNV Deletion17803354
    dgv849e201CNV Deletion23290073
    esv996519CNV Deletion20482838
    esv1703084CNV Deletion17803354
    nsv292333CNV Loss16902084

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF212
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612041   
    OMIM disorders: 612042  
    2 diseases for RNF212:    About MalaCards
    recombination rate qtl 1    


    RNF212 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF212
    Human Genome Epidemiology (HuGE) Navigator: RNF212 (1 document)

    Export disorders for RNF212 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 RNF212 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with RNF212)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variants in the RNF212 gene associate with genome-wide recombination rate. (PubMed id 18239089)1, 2, 4 Kong A.... Stefansson K. (2008)
    2. RNF212 is a dosage-sensitive regulator of crossing-ove r during mammalian meiosis. (PubMed id 23396135)1, 3 Reynolds A....Hunter N. (2013)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Genetic analysis of variation in human meiotic recomb ination. (PubMed id 19763160)1 Chowdhury R....Cheung V.G. (2009)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    10. Targeted gene knockout reveals a role in meiotic reco mbination for ZHP-3, a Zip3-related protein in Caenorhabditis elegans. (PubMed id 15340062)1 Jantsch V....Loidl J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285498 HGNC: 27729 AceView: LOC285498 Ensembl:ENSG00000178222 euGenes: HUgn285498
    ECgene: RNF212 H-InvDB: RNF212

    (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 RNF212 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 RNF212 gene:
    Search GeneIP for patents involving RNF212

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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