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

NDNL2 Gene

protein-coding   GIFtS: 51
GCID: GC15M029560

necdin-like 2

 Explore 5 diseases affiliated with
NDNL2 via our new
 Human Malady Compendium 
Biological research products
for NDNL2
    

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

Aliases
Necdin-Like 21 2     Necdin-Like Protein 22 3
MAGEG11 2 3 5     MAGE-G1 Antigen2 3
HCA41 2 3     Hepatocellular Carcinoma-Associated Protein HCA42
MAGEL31 2     Melanoma Antigen, Family G, 12
NSE31 2     Melanoma-Associated Antigen G12
NSMCE31 2     Necdin-Like Gene 22
Hepatocellular Carcinoma-Associated Protein 42 3     

External Ids:    HGNC: 76771   Entrez Gene: 561602   Ensembl: ENSG000001851157   OMIM: 6082435   UniProtKB: Q96MG73   

Export aliases for NDNL2 gene to outside databases

Previous GC identifers: GC00U990785 GC15U900046 GC15M027276 GC15M027347 GC15M007218


(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 NDNL2:
The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE
superfamily. This is an intronless gene. (provided by RefSeq, May 2011)

UniProtKB/Swiss-Prot: MAGG1_HUMAN, Q96MG7
Function: Component of the SMC5-SMC6 complex, a complex involved in repair of 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). In vitro enhances
ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating
enzyme (E2) at the E3:substrate complex. May be a growth suppressor that facilitates the entry of the cell into cell
cycle arrest




(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDNL2 gene promoter:
         LHX3b/Lhx3b   p53   SREBP-1c   CUTL1   SREBP-1b   GATA-2   SREBP-1a   POU2F1   POU2F1a   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDNL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDNL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDNL2


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

Entrez Gene cytogenetic band: 15q13.1   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q13.1

NDNL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDNL2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M029560:  view genomic region     (about GC identifiers)

Start:
29,560,353 bp from pter      End:
29,562,033 bp from pter
Size:
1,681 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: MAGG1_HUMAN, Q96MG7 (See protein sequence)
Recommended Name: Melanoma-associated antigen G1  
Size: 304 amino acids; 34308 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. Interacts with PJA1. Binds the C-terminus of E2F1 and NGFR (By similarity)
Subcellular location: Cytoplasm (By similarity). Nucleus. Chromosome, telomere (Probable)
Sequence caution: Sequence=BAB84964.1; Type=Frameshift; Positions=290;
1 PDB 3D structure from and Proteopedia for NDNL2:
3NW0 (3D)    
Secondary accessions: Q8IW16 Q8TEI6 Q9H214

Explore the universe of human proteins at neXtProt for NDNL2: NX_Q96MG7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96MG7

  • NDNL2 Protein expression data from MOPED and PaxDb:    About this image 
    NDNL2 Protein Expression
    REFSEQ proteins: NP_619649.1  
    ENSEMBL proteins: 
     ENSP00000330694  

    Human Recombinant Protein Products for NDNL2: 
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    Uscn Proteins for NDNL2

    Gene Ontology (GO): 4 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:0005737cytoplasm IEA--
    GO:0030915Smc5-Smc6 complex IDA18086888

    NDNL2 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

    NDNL2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry Q96MG7

    ProtoNet protein and cluster: Q96MG7

    1 Blocks protein family: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGG1_HUMAN, Q96MG7
    Similarity: Contains 1 MAGE 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,
    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: MAGG1_HUMAN, Q96MG7
    Function: Component of the SMC5-SMC6 complex, a complex involved in repair of 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). In vitro enhances
    ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating
    enzyme (E2) at the E3:substrate complex. May be a growth suppressor that facilitates the entry of the cell into cell
    cycle arrest

         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--
         
    NDNL2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NDNL2 

    miRNA
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    In Situ Assay
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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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1p75(NTR)-mediated signaling
    p75(NTR)-mediated signaling1.00


    1 BioSystems Pathway for NDNL2 
        p75(NTR)-mediated signaling


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NDNL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for NDNL2 (Q96MG71, 3 ENSP000003306944) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010943, ENSP000003455714I2D: score=4 STRING: ENSP00000345571
    NGFRP081383, ENSP000001722294I2D: score=3 STRING: ENSP00000172229
    NSMCE1Q8WV221, ENSP000003550774EBI-2557356,EBI-2557372 STRING: ENSP00000355077
    NSMCE4AQ9NXX61, ENSP000003580194EBI-2557356,EBI-2557393 STRING: ENSP00000358019
    PJA1Q8NG271, ENSP000003550144EBI-2557356,EBI-714606 STRING: ENSP00000355014
    About this table

    Gene Ontology (GO): 5 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:0006355regulation of transcription, DNA-dependent IEA--
    GO:0031398positive regulation of protein ubiquitination IDA--
    GO:0040008regulation of growth IEA--

    NDNL2 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NDNL2
    Search CenterWatch for drugs/clinical trials and news about NDNL2 / MAGG1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 NDNL2 gene: 
    NM_138704.3  

    Unigene Cluster for NDNL2:

    Necdin-like 2
    Hs.94011  [show with all ESTs]
    Unigene Representative Sequence: AK074138
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000332303(uc001zco.3)

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDNL2 (see all 4)
    OriGene shRNA RFP: NDNL2
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    Additional cDNA sequence: 

    AF490510.1 AK056957.1 AK074138.1 BC035458.1 BC041166.1 BC053999.1 

    5 DOTS entries:

    DT.455987  DT.100776249  DT.92423061  DT.100034618  DT.92423059 

    24/131 AceView cDNA sequences (see all 131):

    AW473739 BI759688 NM_138704 BI828485 CR605030 BX102340 AI244558 BC053999 
    BU623901 AI185023 BM684358 BE909407 BQ021505 CR594488 AA319151 AK074138 
    BI759246 AI224106 W04542 CR592806 BQ772383 CD742857 CR602205 BC041166 

    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

    NDNL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTCCAAGCA
    NDNL2 Expression
    About this image
    See NDNL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDNL2

    SOURCE GeneReport for Unigene cluster: Hs.94011

    UniProtKB/Swiss-Prot: MAGG1_HUMAN, Q96MG7
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
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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 NDNL2 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndnl21 , 5 necdin-like 21, 5 80.94(n)1
    83.81(a)1
      7 (34.77 cM)5
    666471  NM_023239.41  NP_075728.11 
     648670525 
    chicken
    (Gallus gallus)
    Aves NDNL21 necdin-like 2 62.9(n)
    53.04(a)
      100125831  NM_001105064.1  NP_001098534.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    54(a)
    1 → many
    1(205669616-205678308)
    zebrafish
    (Danio rerio)
    Actinopterygii ndnl26
    necdin-like 2
    44(a)
    1 → many
    23(13012414-13025121)
    fruit fly
    (Drosophila melanogaster)
    Insecta MAGE6
    MAGE
    25(a)
    1 → many
    3R(2979960-2980898)


    ENSEMBL Gene Tree for NDNL2 (if available)
    TreeFam Gene Tree for NDNL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDNL2 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB42  MAGEB12  MAGEC12  MAGED42  
    MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGEE12  
    MAGED12  MAGEA22  MAGEC32  MAGEA32  NDN2  MAGEB22  MAGEB32  MAGED4B2  
    MAGEE22  MAGEA42  MAGEA12  MAGEA102  MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  
    TRO2  MAGEA112  MAGEF12  
    18/38 SIMAP similar genes for NDNL2 using alignment to 1 protein entry:     MAGG1_HUMAN(see all similar genes):
    MAGEH1    MAGEB16    MAGED1    MAGEF1    TRO    MAGEA11
    MAGEC1    MAGE-B1    MAGEA10    MAGEB1    MAGED2    MAGEE1
    MAGEE2    MAGEA9B    MAGEC2    MAGEA9    MAGEB17    MAGEB18

    NDNL2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NDNL2
    PGOHUM00000241390 PGOHUM00000241840


    (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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for NDNL2
         4 CNVs: 49511 9262 49512 49510
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDNL2
    DNA2.0 Custom Variant and Variant Library Synthesis for NDNL2

    (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

    NDNL2 for disorders           About GeneDecksing

    OMIM gene information: 608243    OMIM disorders: --

    5 diseases for NDNL2:    About MalaCards
    hepatocellular carcinoma    prader-willi syndrome    melanoma    carcinoma
    angelman syndrome

    1 disease from the University of Copenhagen DISEASES database for NDNL2:
    Prader-Willi syndrome

    Export disorders for NDNL2 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 NDNL2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with NDNL2)
        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, 3 Taylor E.M....Lehmann A.R. (2008)
    2. MAGE-RING protein complexes comprise a family of E3 u biquitin ligases. (PubMed id 20864041)1, 2 Doyle J.M....Potts P.R. (2010)
    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 necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues. (PubMed id 11782285)1, 2 Chibuk T.K.... Wevrick R. (2001)
    6. Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. (PubMed id 14593116)1, 9 Kuwako K....Yoshikawa K. (2004)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families. (PubMed id 21364888)2 Hudson J.J....Palecek J. (2011)
    9. 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)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56160 HGNC: 7677 AceView: NDNL2 Ensembl:ENSG00000185115 euGenes: HUgn56160
    ECgene: NDNL2 H-InvDB: NDNL2

    (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 NDNL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NDNL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDNL2 gene:
    Search GeneIP for patents involving NDNL2

    GeneCards and IP:
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