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NXNL2 Gene

protein-coding   GIFtS: 43
GCID: GC09P091150

Nucleoredoxin-Like 2

(Previous name: chromosome 9 open reading frame 121)
(Previous symbol: C9orf121)
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(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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Aliases
Nucleoredoxin-Like 21 2     Chromosome 9 Open Reading Frame 1211
C9orf1211 2 3     Nucleoredoxin-Like Protein 22
Rod-Derived Cone Viability Factor 22 3     RdCVF23
RDCVF22 5     

External Ids:    HGNC: 304821   Entrez Gene: 1580462   Ensembl: ENSG000001300457   OMIM: 6152995   UniProtKB: Q5VZ033   

Export aliases for NXNL2 gene to outside databases

Previous GC identifers: GC09P090340 GC09P060978


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NXNL2 Gene:
NXNL2 (nucleoredoxin-like 2) is a protein-coding gene. An important paralog of this gene is NXN.

UniProtKB/Swiss-Prot: NXNL2_HUMAN, Q5VZ03
Function: May be involved in the maintenance of both the function and the viability of sensory neurons, including
photoreceptors and olfactory neurons (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the NXNL2 gene promoter:
         AhR   ER-alpha   Pax-5   Pax-6   Pax-2   Pax-2a   Arnt   GATA-2   NRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNXNL2 promoter sequence
   Search Chromatin IP Primers for NXNL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NXNL2


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

Entrez Gene cytogenetic band: 9q22.1   Ensembl cytogenetic band:  9q22.1   HGNC cytogenetic band: 9q22.2

NXNL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NXNL2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P091150:  view genomic region     (about GC identifiers)

Start:
91,150,016 bp from pter      End:
91,199,189 bp from pter
Size:
49,174 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NXNL2_HUMAN, Q5VZ03 (See protein sequence)
Recommended Name: Nucleoredoxin-like protein 2  
Size: 156 amino acids; 17614 Da
Secondary accessions: B1AMD0 Q8TBG6
Alternative splicing: 2 isoforms:  Q5VZ03-1   Q5VZ03-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NXNL2: NX_Q5VZ03

Explore proteomics data for NXNL2 at MOPED


See NXNL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001155097.1  NP_660326.2  

ENSEMBL proteins: 
 ENSP00000365015   ENSP00000365014  

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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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1 InterPro protein domain:
 IPR012336 Thioredoxin-like_fold

Graphical View of Domain Structure for InterPro Entry Q5VZ03

ProtoNet protein and cluster: Q5VZ03

UniProtKB/Swiss-Prot: NXNL2_HUMAN, Q5VZ03
Similarity: Belongs to the nucleoredoxin family
Similarity: Contains 1 thioredoxin domain


Find genes that share domains with NXNL2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NXNL2_HUMAN, Q5VZ03
Function: May be involved in the maintenance of both the function and the viability of sensory neurons, including
photoreceptors and olfactory neurons (By similarity)

Phenotypes:
     2 GenomeRNAi human phenotypes for NXNL2:

 Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

     6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nxnl2):
 craniofacial  nervous system  no phenotypic analysis  respiratory system  taste/olfaction 
 vision/eye 

Find genes that share phenotypes with NXNL2           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for NXNL2

miRNA
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hsa-mir-335-5p (MIRT017664)

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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 COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
golgi apparatus1
mitochondrion1
nucleus1
peroxisome1
plasma membrane1

(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NXNL2
Interactions:

    Search GeneGlobe Interaction Network for NXNL2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for NXNL2 (Q5VZ033 ENSP000003650154) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
FLIIQ130453I2D: score=1 
CREBBPENSP000002623674STRING: ENSP00000262367
EP300ENSP000002632534STRING: ENSP00000263253
About this table

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007601visual perception IEA--
GO:0007608sensory perception of smell IEA--

Find genes that share ontologies with NXNL2           About GenesLikeMe



(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 NXNL2



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NXNL2 gene (2 alternative transcripts): 
NM_001161625.1  NM_145283.2  

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000487646 ENST00000375855(uc004aqa.3) ENST00000478686 ENST00000375854(uc011ltj.2)

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  QuantiFast Probe-based Assays in human, mouse, rat NXNL2

10 AceView cDNA sequences:

BX089283 BE552141 AI539536 AI687399 BC022521 NM_145283 BI517442 AW612453 
AI433287 BE088414 

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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NXNL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NXNL2 Expression
About this image


NXNL2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Eye (Sensory Organs)    fully expand to see all 2 entries
         Mature Rod Cells Outer Nuclear Layer
         Retina
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
NXNL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NXNL2 Protein Expression
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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)
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This gene was present in the common ancestor of animals.

Orthologs for NXNL2 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nxnl21 , 5 nucleoredoxin-like 21, 5 85.16(n)1
85.16(a)1
  13 (26.08 cM)5
751241  NM_029173.41  NP_083449.11 
 511710255 
chicken
(Gallus gallus)
Aves NXNL21 nucleoredoxin-like 2 73.76(n)
66.45(a)
  426175  XM_003643014.2  XP_003643062.1 
lizard
(Anolis carolinensis)
Reptilia NXNL26
nucleoredoxin-like 2
68(a)
1 ↔ 1
2(37133460-37147619)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004860901 nucleoredoxin-like protein 2-like 62.34(n)
59.74(a)
  100486090  XM_002937022.2  XP_002937068.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.140232 Transcribed sequence with weak similarity to protein more 75(n)    CK352741.1 
worm
(Caenorhabditis elegans)
Secernentea C32D5.81 C32D5.8 53.03(n)
44.55(a)
  174048  NM_001026832.2  NP_001022003.1 


ENSEMBL Gene Tree for NXNL2 (if available)
TreeFam Gene Tree for NXNL2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NXNL2 gene
NXN2  NXNL12  
2 SIMAP similar genes for NXNL2 using alignment to 1 protein entry:     NXNL2_HUMAN:
NXNL1    NXN

Find genes that share paralogs with NXNL2           About GenesLikeMe



(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 NXNL2 (see all 963)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1153073651,2
F--91148026(+) TAGGAG/AAGCAA 2 -- us2k11Minor allele frequency- A:0.03WA 118
rs1884881911,2
--91148079(+) GAAATG/TAACTG 2 -- us2k10--------
rs1816831641,2
--91148132(+) TAATCG/TTTAAT 2 -- us2k10--------
rs781811941,2
F--91148373(+) CAATCA/GGTTTC 2 -- us2k11Minor allele frequency- G:0.09WA 118
rs1408266371,2
C--91148377(+) CAGTTG/TCTTTT 2 -- us2k10--------
rs1852800061,2
--91148433(+) TTTGCC/TATTTT 2 -- us2k10--------
rs1447622471,2
--91148451(+) CCTCTA/CGCTCA 2 -- us2k10--------
rs1474823871,2
--91148467(+) ATCAAA/TATACC 2 -- us2k10--------
rs65600951,2
C,F,A,H--91148579(+) tttaaG/Aatatt 2 -- us2k113Minor allele frequency- A:0.15NS NA WA 1594
rs1155577511,2
F--91148752(+) TCGCCA/GAAAAA 2 -- us2k11Minor allele frequency- G:0.01WA 118

HapMap Linkage Disequilibrium report for NXNL2 (91150016 - 91199189 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for NXNL2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2738720CNV Deletion23290073
esv2738719CNV Deletion23290073
nsv6605CNV Insertion18451855
nsv511421CNV Gain21212237
esv24600CNV Gain19812545

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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.)
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OMIM gene information: 615299    OMIM disorders: --


Find genes that share disorders with NXNL2           About GenesLikeMe

Genetic Association Database (GAD): NXNL2

Export disorders for NXNL2 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 NXNL2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with NXNL2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  2. 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. (Genome Res. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PubMed id 22331829)4 Chasman D.I....Ridker P.M. (Circ Cardiovasc Genet 2012)
  5. Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity. (PubMed id 20949100)1 Lambard S....Zack D.J. (PLoS ONE 2010)
  6. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
  7. Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential. (PubMed id 17764561)1 Chalmel F....Poch O. (BMC Mol. Biol. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 158046 HGNC: 30482 AceView: C9orf121 Ensembl:ENSG00000130045 euGenes: HUgn158046
ECgene: NXNL2 H-InvDB: NXNL2

(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 NXNL2 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 NXNL2 gene:
Search GeneIP for patents involving NXNL2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Block miRNA regulation of human, mouse, rat NXNL2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NXNL2
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 GenScript Custom Purified and Recombinant Proteins Services for NXNL2 GenScript cDNA clones with any tag delivered in your preferred vector for NXNL2
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 See all of Abcam's Antibodies, Kits and Proteins for NXNL2
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NXNL2
 SwitchGear 3'UTR luciferase reporter plasmids for NXNL2
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 ThermoFisher Antibodies for NXNL2
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NXNL2
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 genOway: Develop your customized and physiologically relevant rodent model for NXNL2
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 antibodies-online proteins for NXNL2 (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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