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RMI2 Gene

protein-coding   GIFtS: 43
GCID: GC16P011343

RecQ Mediated Genome Instability 2

(Previous names: chromosome 16 open reading frame 75, RMI2, RecQ mediated...)
(Previous symbol: C16orf75)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
RecQ Mediated Genome Instability 21 2     Chromosome 16 Open Reading Frame 751
C16orf751 2 3 5     RMI2, RecQ Mediated Genome Instability 2, Homolog (S. Cerevisiae)1
BLAP182 3 5     RecQ-Mediated Genome Instability 2, S. Cerevisiae, Homolog Of2
BLM-Associated Protein Of 18 KDa2 3     RecQ-Mediated Genome Instability Protein 22
hRMI22 3     RMI2, RecQ Mediated Genome Instability 2, Homolog2

External Ids:    HGNC: 283491   Entrez Gene: 1160282   Ensembl: ENSG000001756437   OMIM: 6124265   UniProtKB: Q96E143   
ORGUL members:         

Export aliases for RMI2 gene to outside databases

Previous GC identifer: GC16P011411


(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 RMI2 Gene:
RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous
recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 (PubMed
18923082)).(supplied by OMIM, Nov 2008)

GeneCards Summary for RMI2 Gene:
RMI2 (RecQ mediated genome instability 2) is a protein-coding gene. Diseases associated with RMI2 include bloom syndrome, and fanconi's anemia.

UniProtKB/Swiss-Prot: RMI2_HUMAN, Q96E14
Function: Essential component of the RMI complex, a complex that plays an important role in the processing of
homologous recombination intermediates to limit DNA crossover formation in cells. The complex is therefore
essential for the stability, localization, and function of complexes containing BLM. In the RMI complex, it is
required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM




(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_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RMI2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RMI2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RMI2


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

Entrez Gene cytogenetic band: 16p13.13   Ensembl cytogenetic band:  16p13.13   HGNC cytogenetic band: 16p13.13

RMI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RMI2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P011343:  view genomic region     (about GC identifiers)

Start:
11,343,476 bp from pter      End:
11,445,619 bp from pter
Size:
102,144 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RMI2_HUMAN, Q96E14 (See protein sequence)
Recommended Name: RecQ-mediated genome instability protein 2  
Size: 147 amino acids; 15865 Da
Subunit: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with
BLM
3 PDB 3D structures from and Proteopedia for RMI2:
3MXN (3D)        3NBH (3D)        4DAY (3D)    
Secondary accessions: B3KVZ6 Q49AE2 Q8TBL0
Alternative splicing: 2 isoforms:  Q96E14-1   Q96E14-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RMI2: NX_Q96E14

Explore proteomics data for RMI2 at MOPED

Post-translational modifications: 

  • Phosphorylated during mitosis1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RMI2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689521.1  
    ENSEMBL proteins: 
     ENSP00000461206   ENSP00000310356   ENSP00000459601   ENSP00000371241  

    RMI2 Human Recombinant Protein Products:

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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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    ProtoNet protein and cluster: Q96E14

    UniProtKB/Swiss-Prot: RMI2_HUMAN, Q96E14
    Similarity: Belongs to the RMI2 family
    Similarity: Contains 1 OB DNA-binding domain


    (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: RMI2_HUMAN, Q96E14
    Function: Essential component of the RMI complex, a complex that plays an important role in the processing of
    homologous recombination intermediates to limit DNA crossover formation in cells. The complex is therefore
    essential for the stability, localization, and function of complexes containing BLM. In the RMI complex, it is
    required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    RMI2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RMI2:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RMI2
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    3 qRT-PCR Assays for microRNAs that regulate RMI2:
    hsa-miR-3688-3p hsa-miR-34b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRMI2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RMI2

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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
    RMI2_HUMAN, Q96E14: Nucleus. Note=Colocalizes with BLM at nuclear DNA repair foci

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--

    RMI2 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 RMI2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for RMI2):
        Fanconi anemia pathway


    RMI2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RMI2
    Interactions:

        Search GeneGlobe Interaction Network for RMI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for RMI2 (Q96E142, 3 ENSP000003103564) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RMI1Q9H9A72, 3, ENSP000003170394MINT-8048980 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 I2D: score=1 STRING: ENSP00000317039
    TOP3AQ134722, ENSP000003216364MINT-8048980 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 STRING: ENSP00000321636
    BLMP541322, ENSP000003472324MINT-8048980 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 STRING: ENSP00000347232
    RIF1Q5UIP02, ENSP000002433264MINT-8048980 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 STRING: ENSP00000243326
    FANCMQ8IYD83, ENSP000002674304I2D: score=1 STRING: ENSP00000267430
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IEA--

    RMI2 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 RMI2



    (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,
    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 RMI2 gene: 
    NM_152308.1  

    Unigene Cluster for RMI2:

    RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)
    Hs.347524  [show with all ESTs]
    Unigene Representative Sequence: BC039361
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000573910 ENST00000572173(uc002daq.1) ENST00000572992 ENST00000312499(uc002daw.1)
    ENST00000576027 ENST00000381820
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate RMI2:
    hsa-miR-3688-3p hsa-miR-34b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRMI2 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RMI2
      QuantiFast Probe-based Assays in human, mouse, rat RMI2

    Additional mRNA sequence: 

    AK123764.1 BC013040.2 BC022427.1 BC031016.1 BC039361.1 

    6 DOTS entries:

    DT.87016475  DT.100835708  DT.100775947  DT.102825488  DT.101979909  DT.102825489 

    Selected AceView cDNA sequences (see all 102):

    AI597613 CR626010 BU509119 BM474434 CR620636 CR626823 CR593562 CR592375 
    BI829322 CR598957 CR611079 BU845454 AI075033 AI675722 BC039361 AI817803 
    BU169567 CB106480 BC022427 BX423062 BE396569 BX376439 BG496480 BG392374 

    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)
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    RMI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGTAGACT
    RMI2 Expression
    About this image

    RMI2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RMI2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.347524
        Custom PCR Arrays for RMI2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMI2

    (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 RMI2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rmi21 , 5 RIKEN cDNA A630055G03 gene5
    RMI2, RecQ mediated genome instability 2, homolog (S. more1
    84.93(n)1
    84.93(a)1
      16 (6.06 cM)5
    2239701  NM_001162932.11  NP_001156404.11 
     108350595 
    chicken
    (Gallus gallus)
    Aves RMI21 RMI2, RecQ mediated genome instability 2, homolog (S. more 71.61(n)
    69.53(a)
      416628  NM_001006174.1  NP_001006174.1 
    lizard
    (Anolis carolinensis)
    Reptilia RMI26
    RecQ mediated genome instability 2
    46(a)
    1 ↔ 1
    2(100657888-100658346)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rmi21 RecQ mediated genome instability 2 57.04(n)
    52.82(a)
      101731578  XM_004917949.1  XP_004918006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5632181 recQ-mediated genome instability protein 2-like 59.17(n)
    55.04(a)
      563218  XM_686582.5  XP_691674.2 


    ENSEMBL Gene Tree for RMI2 (if available)
    TreeFam Gene Tree for RMI2 (if available)

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

    (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 RMI2 (see all 234)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99360931,2
    C,F--11333275(+) ACTTCC/GTACAA 1 -- us2k17Minor allele frequency- G:0.29WA NA CSA 248
    rs795904391,2
    C,F--11333289(+) TCTTAC/TAATAG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs124477821,2
    C,F,A,H--11333347(+) GCTGAT/CGCCTG 1 -- us2k14Minor allele frequency- C:0.40NA 10
    rs1829421611,2
    --11333436(+) ACCCCA/GTCTCT 1 -- us2k10--------
    rs99285261,2
    C,F--11333477(+) TGGCGC/TGTACC 1 -- us2k15Minor allele frequency- T:0.44WA NA CSA 9
    rs99356651,2
    C,F--11333542(+) GCGGAC/GGTTGC 1 -- us2k14Minor allele frequency- G:0.43NA WA CSA 7
    rs99264631,2
    C,F,A,H--11333566(+) GGCACA/CACTGC 1 -- us2k18Minor allele frequency- C:0.47NA WA CSA 15
    rs1121608851,2
    C,F--11333571(+) AACTGC/TACTCC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1884397361,2
    --11333679(+) CCTGGA/GAACTC 1 -- us2k10--------
    rs1163965961,2
    --11333733(+) ATTTAA/GGATCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RMI2 (11343476 - 11445619 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RMI2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RMI2
    DNA2.0 Custom Variant and Variant Library Synthesis for RMI2

    (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.)
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    OMIM gene information: 612426    OMIM disorders: --

    5 diseases for RMI2:    About MalaCards
    bloom syndrome    fanconi's anemia    crohn's disease    type 1 diabetes
    inflammatory bowel disease


    RMI2 for disorders           About GeneDecksing


    Export disorders for RMI2 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 RMI2 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with RMI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. (PubMed id 18923083)1, 2, 3 Singh T.R.... Meetei A.R. (Genes Dev. 2008)
    2. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PubMed id 20826341)1, 3 Hoadley K.A....Keck J.L. (Structure 2010)
    3. RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. (PubMed id 18923082)1, 2 Xu D.... Wang W. (Genes Dev. 2008)
    4. Monopolar spindle 1 (MPS1) protein-dependent phosphorylation of RecQ-mediated genome instability protein 2 (RMI2) at serine 112 is essential for BLM-Topo III I+-RMI1-RMI2 (BTR) protein complex function upon spindle assembly checkpoint (SAC) activation during mitosis. (PubMed id 24108125)1 Pradhan A....Meetei A.R. (J. Biol. Chem. 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PubMed id 20601676)1 Fransen K....Weersma R.K. (Hum. Mol. Genet. 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (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)
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    Entrez Gene: 116028 HGNC: 28349 AceView: MGC24665 Ensembl:ENSG00000175643 euGenes: HUgn116028
    ECgene: RMI2 Kegg: 116028 H-InvDB: RMI2

    (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 RMI2 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 RMI2 gene:
    Search GeneIP for patents involving RMI2

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



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