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

NSMCE4A Gene

protein-coding   GIFtS: 47
GCID: GC10M123716

non-SMC element 4 homolog A (S. cerevisiae)

(Previous name: chromosome 10 open reading frame 86 )
(Previous symbol: C10orf86)
  Search for NSMCE4A
in our new
 Human Malady Compendium 
Biological research products
for NSMCE4A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Non-SMC Element 4 Homolog A (S. Cerevisiae)1 2     BA500G22.31
C10orf861 2 3     Chromosome 10 Open Reading Frame 861
NSE4A1 2 5     Non-Structural Maintenance Of Chromosomes Element 4 Homolog A2
NS4EA2 3     Non-SMC Element 4 Homolog A3
FLJ200031     

External Ids:    HGNC: 259351   Entrez Gene: 547802   Ensembl: ENSG000001076727   OMIM: 6129875   UniProtKB: Q9NXX63   

Export aliases for NSMCE4A gene to outside databases

Previous GC identifers: GC10M123709 GC10M117347


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

UniProtKB/Swiss-Prot: NSE4A_HUMAN, Q9NXX6
Function: Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous
recombination. 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). Is involved in
positive regulation of response to DNA damage stimulus

Gene Wiki entry for NSMCE4A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSMCE4A gene promoter:
         E2F-3a   E2F-4   E2F-5   Pax-6   E2F-2   HNF-1A   PPAR-alpha   E2F-1   E2F   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSMCE4A promoter sequence
   Search SABiosciences Chromatin IP Primers for NSMCE4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSMCE4A


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

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.13

NSMCE4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSMCE4A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M123716:  view genomic region     (about GC identifiers)

Start:
123,716,603 bp from pter      End:
123,734,743 bp from pter
Size:
18,141 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NSE4A_HUMAN, Q9NXX6 (See protein sequence)
Recommended Name: Non-structural maintenance of chromosomes element 4 homolog A  
Size: 385 amino acids; 44301 Da
Subunit: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and
NDNL2. NSMCE1, NSMCE4A or EID3 and NDNL2 probably form a subcomplex that bridges the head domains of the SMC5:SMC6
heterodimer
Subcellular location: Nucleus. Chromosome, telomere (Probable)
Secondary accessions: Q5SQQ5 Q6P673 Q8WY66 Q9BS90
Alternative splicing: 2 isoforms:  Q9NXX6-1   Q9NXX6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSMCE4A: NX_Q9NXX6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NXX6

  • NSMCE4A Protein expression data from MOPED and PaxDb:    About this image 
    NSMCE4A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161337.1  NP_060085.2  

    ENSEMBL proteins: 
     ENSP00000358019   ENSP00000358013   ENSP00000445856  

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    Uscn Proteins for NSMCE4A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0005634nucleus IEA--
    GO:0030915Smc5-Smc6 complex IDA18086888

    NSMCE4A for ontologies           About GeneDecksing



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

    NSMCE4A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR014854 Nse4

    Graphical View of Domain Structure for InterPro Entry Q9NXX6

    ProtoNet protein and cluster: Q9NXX6

    UniProtKB/Swiss-Prot: NSE4A_HUMAN, Q9NXX6
    Similarity: Belongs to the NSE4 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSE4A_HUMAN, Q9NXX6
    Function: Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous
    recombination. 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). Is involved in
    positive regulation of response to DNA damage stimulus

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    NSMCE4A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NSMCE4A:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NSMCE4A 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSMCE4A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for NSMCE4A (Q9NXX61, 3 ENSP000003580194) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDNL2Q96MG71, ENSP000003306944EBI-2557393,EBI-2557356 STRING: ENSP00000330694
    APPBP2Q926243I2D: score=1 
    NSMCE2ENSP000002874374STRING: ENSP00000287437
    SMC6ENSP000003234394STRING: ENSP00000323439
    NSMCE1ENSP000003550774STRING: ENSP00000355077
    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:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:2001022positive regulation of response to DNA damage stimulus IMP18086888

    NSMCE4A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for NSMCE4A
    Search CenterWatch for drugs/clinical trials and news about NSMCE4A / NSE4A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NSMCE4A gene (2 alternative transcripts): 
    NM_001167865.1  NM_017615.2  

    Unigene Cluster for NSMCE4A:

    Non-SMC element 4 homolog A (S. cerevisiae)
    Hs.258798  [show with all ESTs]
    Unigene Representative Sequence: AF258584
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369023(uc001lfs.3 uc009xzv.3) ENST00000477289 ENST00000492346
    ENST00000459911 ENST00000489266 ENST00000468209 ENST00000483541 ENST00000482078
    ENST00000369017(uc001lfu.2) ENST00000464321 ENST00000481320 ENST00000472431
    ENST00000465189 ENST00000538652(uc010qtu.1)

    miRNA
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    hsa-miR-548am hsa-miR-548d-3p hsa-miR-338-5p hsa-miR-548x hsa-miR-487a hsa-miR-485-3p hsa-miR-222 hsa-miR-221
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF258584.1 AK000010.1 AK056579.1 AK222487.1 AK301658.1 AK308687.1 BC005212.1 BC062427.1 

    15 DOTS entries:

    DT.216493  DT.95172039  DT.40307357  DT.100820595  DT.97776019  DT.92428116  DT.97843547  DT.121225632 
    DT.100820596  DT.216495  DT.100820594  DT.92428121  DT.95172033  DT.95172044  DT.97843548 

    24/173 AceView cDNA sequences (see all 173):

    AI420148 BF515916 BG288573 BC062427 BC005212 BM709624 BF195617 BF513567 
    AA778546 CB127822 BE261235 BE220132 W94078 CB141007 CB108329 AI337530 
    AW166323 AI278772 BM423769 AI633450 AI805306 AW024968 AI702866 CK825869 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE4A (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
    SP1:                    -     -     -     -     -           -                       -                 -     -                 -                                 
    SP2:                                                        -                       -                       -                 -                                 
    SP3:                    -     -     -     -     -           -                       -                 -     -                 -                                 
    SP4:                    -     -     -     -     -           -                       -                                                                           
    SP5:                                                        -                       -                 -     -                                                   


    ECgene alternative splicing isoforms for NSMCE4A

    (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

    NSMCE4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTGTCTTTG
    NSMCE4A Expression
    About this image
    See NSMCE4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSMCE4A

    SOURCE GeneReport for Unigene cluster: Hs.258798
        SABiosciences Custom PCR Arrays for NSMCE4A

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    In Situ
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    (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 NSMCE4A gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsmce4a1 , 5 non-SMC element 4 homolog A (S. cerevisiae)1, 5 88.51(n)1
    88.16(a)1
      7 (73.19 cM)5
    678721  NM_001162855.11  NP_001156327.11 
     1305325235 
    chicken
    (Gallus gallus)
    Aves NSMCE4A1 non-SMC element 4 homolog A (S. cerevisiae) 62.46(n)
    54.03(a)
      423937  XM_421797.3  XP_421797.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    53(a)
    1 → many
    3(64366575-64378287)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.36412 Transcribed sequence with weak similarity to protein more 73.45(n)    AL851642.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nsmce4a1 non-SMC element 4 homolog A (S. cerevisiae) 53.88(n)
    50.15(a)
      553544  NM_001020523.1  NP_001018359.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H21P03.26
    Protein H21P03.2
    15(a)
    1 → many
    IV(11480665-11482602)


    ENSEMBL Gene Tree for NSMCE4A (if available)
    TreeFam Gene Tree for NSMCE4A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSMCE4A gene
    EID32  
    1 SIMAP similar gene for NSMCE4A using alignment to 2 protein entries:     NSE4A_HUMAN (see all proteins):
    EID3

    NSMCE4A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NSMCE4A
    PGOHUM00000235006 PGOHUM00000245116


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/391 NCBI SNPs in NSMCE4A are shown (see all 391    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1461974761,2
    --123716104(+) AGAGCA/GGGCTC 2 -- int10--------
    rs1877456091,2
    --123716115(+) CCCTAA/GGAGGC 2 -- int10--------
    rs1926270211,2
    --123716124(+) GCAGGA/GAGCAC 2 -- int10--------
    rs1379397131,2
    --123716158(+) AAAGAC/TGCCTC 2 -- int10--------
    rs65857711,2
    C,F,H--123716216(+) GTGGGC/AACTGG 2 -- int115Minor allele frequency- A:0.02NA WA CSA EA 397
    rs1848328181,2
    --123716302(+) GGGCTC/GATGTT 2 -- int10--------
    rs1494550571,2
    --123716509(+) GGTCCA/GCAGGG 2 -- int10--------
    rs1405492481,2
    --123716617(+) ATGGC-/GGGGGG
            
    GGTGA
    2 -- ut310--------
    rs70998951,2
    C,F,H--123716730(+) TGTACA/GATACA 2 -- ut31 ese317Minor allele frequency- G:0.00NS EA NA WA CSA 1074
    rs122466931,2
    C,F,A,H--123716888(+) CCAGGT/GTAATC 2 -- int16Minor allele frequency- G:0.10NS EA NA 648

    HapMap Linkage Disequilibrium report for NSMCE4A (123716603 - 123734743 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NSMCE4A: --

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    (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

    NSMCE4A for disorders           About MalaCards

    NSMCE4A for disorders           About GeneDecksing

    OMIM gene information: 612987    OMIM disorders: --


    Export disorders for NSMCE4A 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 NSMCE4A gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with NSMCE4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex. (PubMed id 15752197)1, 3 Hu B....Panaretou B. (2005)
    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. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)

    (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: 54780 HGNC: 25935 AceView: C10orf86 Ensembl:ENSG00000107672 euGenes: HUgn54780
    ECgene: NSMCE4A H-InvDB: NSMCE4A

    (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 NSMCE4A 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 NSMCE4A gene:
    Search GeneIP for patents involving NSMCE4A

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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