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

NSMCE2 Gene

protein-coding   GIFtS: 49
GCID: GC08P126103

Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae)

(Previous names: chromosome 8 open reading frame 36, non-SMC element 2 homolog...)
(Previous symbol: C8orf36)
  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

Aliases
Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae)1 2     Non-SMC Element 2 Homolog (MMS21, S. Cerevisiae)1
C8orf361 2 3     Zinc Finger1
Non-SMC Element 2 Homolog2 3     NSE22
Non-Structural Maintenance Of Chromosomes Element 2 Homolog2 3     ZMIZ72
MMS212 3     E3 SUMO-Protein Ligase NSE22
hMMS212 3     Methyl Methanesulfonate Sensitivity Gene 212
MMS21 Homolog2 3     Zinc Finger, MIZ-Type Containing 72
Chromosome 8 Open Reading Frame 361     EC 6.3.2.-3
MIZ-Type Containing 71     EC 6.3.28

External Ids:    HGNC: 265131   Entrez Gene: 2860532   Ensembl: ENSG000001568317   UniProtKB: Q96MF73   

Export aliases for NSMCE2 gene to outside databases

Previous GC identifers: GC08P126175 GC08P121427


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

GeneCards Summary for NSMCE2 Gene: 
NSMCE2 (non-SMC element 2, MMS21 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with NSMCE2 include bipolar disorder, and prostate cancer. GO annotations related to this gene include SUMO ligase activity and zinc ion binding.

UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7
Function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break
repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote
sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks.
The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres)
cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to
shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment
to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and
maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO
protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA
repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase
and mitotic progression




(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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSMCE2 gene promoter:
         IRF-1   HNF-1A   MEF-2A   CBF-A   CBF-B   HNF-1   CP1A   aMEF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSMCE2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NSMCE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSMCE2


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

Entrez Gene cytogenetic band: 8q24.13   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.13

NSMCE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSMCE2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P126103:  view genomic region     (about GC identifiers)

Start:
126,103,921 bp from pter      End:
126,379,367 bp from pter
Size:
275,447 bases      Orientation:
plus 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: NSE2_HUMAN, Q96MF7 (See protein sequence)
Recommended Name: E3 SUMO-protein ligase NSE2  
Size: 247 amino acids; 27932 Da
Subunit: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3
and NDNL2
Subcellular location: Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines
1 PDB 3D structure from and Proteopedia for NSMCE2:
2YU4 (3D)    
Secondary accessions: Q8N549

Explore the universe of human proteins at neXtProt for NSMCE2: NX_Q96MF7

Explore proteomics data for NSMCE2 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated, possibly via autosumoylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MF7

  • 3 DME Specific Peptides for NSMCE2 (Q96MF7)
     IVTQSQTNF  KAVQSTINHVKEER  QTEVSSEYSMDKAMVEFA 

    NSMCE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NSMCE2 Protein Expression
    REFSEQ proteins: NP_775956.1  
    ENSEMBL proteins: 
     ENSP00000429383   ENSP00000429612   ENSP00000287437   ENSP00000431002   ENSP00000430668  
     ENSP00000430313   ENSP00000429014   ENSP00000428846  

    Human Recombinant Protein Products for NSMCE2: 
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    OriGene Protein Over-expression Lysate for NSMCE2
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    Novus Biologicals NSMCE2 Proteins
    Novus Biologicals NSMCE2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSMCE2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex ----
    GO:0000781chromosome, telomeric region IDA17589526
    GO:0016605PML body IDA17589526
    GO:0030915Smc5-Smc6 complex IDA18086888

    NSMCE2 for ontologies           About GeneDecksing



    NSMCE2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NSMCE2 

    Assay Products for NSMCE2: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NSMCE2 
    Cloud-Clone Corp. CLIAs for NSMCE2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZMIZ: Zinc fingers, MIZ-type

    4 InterPro protein domains:
     IPR004181 Znf_MIZ
     IPR026846 Nse2(Mms21)
     IPR027370 zf-RING_LisH
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q96MF7

    ProtoNet protein and cluster: Q96MF7

    UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7
    Similarity: Belongs to the NSE2 family
    Similarity: Contains 1 SP-RING-type zinc finger


    NSMCE2 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: NSE2_HUMAN, Q96MF7
    Function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break
    repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote
    sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks.
    The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres)
    cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to
    shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment
    to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and
    maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO
    protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA
    repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase
    and mitotic progression

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ----
    GO:0005515protein binding IPI18086888
    GO:0008270zinc ion binding IEA--
    GO:0019789SUMO ligase activity IDA17589526
         
    NSMCE2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Nsmce2 (no phenotypes)

    NSMCE2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NSMCE2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NSMCE2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NSMCE2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NSMCE2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSMCE2
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    SwitchGear 3'UTR luciferase reporter plasmidNSMCE2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NSMCE2
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NSMCE2

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NSMCE2 (NM_173685)
    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of NSMCE2 

    Cell Line
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    Search LifeMap BioReagents cell lines for NSMCE2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMCE2


    (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: NSE2_HUMAN, Q96MF7
    Pathway: Protein modification; protein sumoylation

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSMCE2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for NSMCE2 (Q96MF71 ENSP000002874374) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC6Q96SB81, ENSP000003234394EBI-2557388,EBI-605415 STRING: ENSP00000323439
    NSMCE4AENSP000003580194STRING: ENSP00000358019
    SMC5ENSP000003549574STRING: ENSP00000354957
    NDNL2ENSP000003306944STRING: ENSP00000330694
    NSMCE1ENSP000003550774STRING: ENSP00000355077
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000722telomere maintenance via recombination IMP17589526
    GO:0000724double-strand break repair via homologous recombination IMP16810316
    GO:0006303NOT double-strand break repair via nonhomologous end joining IMP16810316
    GO:0007067mitosis IEA--
    GO:0016567protein ubiquitination ----

    NSMCE2 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 NSMCE2 (NSE2)

    Search CenterWatch for drugs/clinical trials and news about NSMCE2 / NSE2

    (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 NSMCE2 gene: 
    NM_173685.2  

    Unigene Cluster for NSMCE2:

    Non-SMC element 2, MMS21 homolog (S. cerevisiae)
    Hs.388297  [show with all ESTs]
    Unigene Representative Sequence: BF966035
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523741 ENST00000520866 ENST00000519010 ENST00000517532 ENST00000287437(uc003yrw.2)
    ENST00000518013 ENST00000523824 ENST00000522563 ENST00000518146 ENST00000523549
    ENST00000519712 ENST00000517315 ENST00000521460
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NSMCE2
    SwitchGear 3'UTR luciferase reporter plasmidNSMCE2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NSMCE2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSMCE2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NSMCE2 (NM_173685)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSMCE2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMCE2
    Sirion Biotech Customized lentivirus for stable overexpression of NSMCE2 
                         Customized lentivirus expression plasmids for stable overexpression of NSMCE2 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NSMCE2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NSMCE2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSMCE2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMCE2

    Additional mRNA sequence: 

    AF147336.1 AK057002.1 BC032797.1 

    15 DOTS entries:

    DT.311499  DT.100815214  DT.95164454  DT.99941399  DT.100754810  DT.204918  DT.95164455  DT.100815211 
    DT.95164453  DT.100023269  DT.121467676  DT.91764688  DT.91764693  DT.100789091  DT.121467704 

    24/120 AceView cDNA sequences (see all 120):

    CB123250 AI638378 BM840663 BF512615 AI445325 H72555 CN479340 CR620646 
    CA446607 BE501754 AA580739 AF147336 AL527284 BM671181 BP872985 BM844770 
    BM993808 AA505468 AW438895 AA342118 CF127605 BU620878 BM761352 AI859890 

    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

    NSMCE2 expression in normal human tissues (normalized intensities)      NSMCE2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGAGTCCA
    NSMCE2 Expression
    About this image


    NSMCE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod

    See NSMCE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSMCE2

    SOURCE GeneReport for Unigene cluster: Hs.388297
        SABiosciences Custom PCR Arrays for NSMCE2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMCE2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMCE2

    (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 chordates.

    Orthologs for NSMCE2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsmce21 , 5 non-SMC element 2 homolog (MMS21, S. cerevisiae)1, 5 85.29(n)1
    84.21(a)1
      15 (25.19 cM)5
    685011  NM_026746.31  NP_081022.21 
     593741985 
    chicken
    (Gallus gallus)
    Aves NSMCE21 non-SMC element 2, MMS21 homolog (S. cerevisiae) 67.84(n)
    59.03(a)
      420333  XM_418440.3  XP_418440.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSMCE26
    Uncharacterized protein
    47(a)
    1 ↔ 1
    4(5512082-5737760)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC530492 hypothetical protein MGC53049 72.45(n)    BC044994.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1945901 zgc:194590 51.79(n)
    38.39(a)
      564644  NM_001128718.1  NP_001122190.1 


    ENSEMBL Gene Tree for NSMCE2 (if available)
    TreeFam Gene Tree for NSMCE2 (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

    10/5407 SNPs in NSMCE2 are shown (see all 5407)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363274
    A breast cancer sample4--see VAR_0363272 L F mis40--------
    rs1149832331,2
    F--126106078(+) TTATCG/ATCCAG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1842079751,2
    --126106091(+) TAGAAC/TGCAGT 1 -- int10--------
    rs37635931,2
    C--126106163(-) CCCTCG/AGAAGG 1 -- int13Minor allele frequency- A:0.04NA EA 242
    rs1123083161,2
    C--126106171(+) GGGTCC/TAGGAC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1458622231,2
    --126106237(+) GTTGGG/TGTCTT 1 -- int10--------
    rs1883610051,2
    --126106281(+) CCTCAA/GGCAAT 1 -- int10--------
    rs1416772511,2
    C--126106288(+) CAATC-/TTC   
      CTGCCT
    TGCCC
    1 -- int10--------
    rs1163301251,2
    C,F--126106324(+) TATAGG/ACATGA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1930173911,2
    --126106505(+) CAAGAC/TAGTCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for NSMCE2 (126103921 - 126353921 bp, first 250kb of NSMCE2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for NSMCE2 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672529CNV Deletion23128226
    esv2737544CNV Deletion23290073
    esv2737543CNV Deletion23290073
    esv2617834CNV Deletion19546169
    esv1108735CNV Deletion17803354
    esv1989590CNV Deletion18987734
    esv2737541CNV Deletion23290073
    esv2656518CNV Deletion23128226
    esv2737542CNV Deletion23290073
    esv2676303CNV Deletion23128226

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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
    3 diseases for NSMCE2:    About MalaCards
    bipolar disorder    prostate cancer    prostatitis


    NSMCE2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NSMCE2
    Human Genome Epidemiology (HuGE) Navigator: NSMCE2 (4 documents)

    Export disorders for NSMCE2 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 NSMCE2 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with NSMCE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Susceptibility loci associated with prostate cancer p rogression and mortality. (PubMed id 20460480)1, 4 Gallagher D.J....Offit K. (2010)
    3. Prostate cancer risk associated loci in African Ameri cans. (PubMed id 19549807)1, 4 Xu J....Isaacs W.B. (2009)
    4. SMC5 and MMS21 are required for chromosome cohesion a nd mitotic progression. (PubMed id 19502785)1, 2 Behlke-Steinert S....Margolis R.L. (2009)
    5. Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. (PubMed id 18086888)1, 2 Taylor E.M....Lehmann A.R. (2008)
    6. The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins. (PubMed id 17589526)1, 2 Potts P.R. and Yu H. (2007)
    7. Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double- strand breaks. (PubMed id 16810316)1, 2 Potts P.R.... Yu H. (2006)
    8. Human MMS21/NSE2 is a SUMO ligase required for DNA repair. (PubMed id 16055714)1, 2 Potts P.R. and Yu H. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 286053 HGNC: 26513 AceView: FLJ32440 Ensembl:ENSG00000156831 euGenes: HUgn286053
    ECgene: NSMCE2 H-InvDB: NSMCE2

    (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 NSMCE2 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 NSMCE2 gene:
    Search GeneIP for patents involving NSMCE2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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