RTN2 Gene
protein-coding GIFtS: 53
GCID: GC19M045988
|
|
reticulon 2(Previous name: spastic paraplegia 12 (autosomal dominant) ) (Previous symbol: SPG12)
| |
Aliases for RTN2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Reticulon 21 2 | | NSP-Like Protein 12 3 | | NSPL11 2 3 5 | | NSP-Like Protein I2 3 | | NSP21 2 | | Spastic Paraplegia 12 (Autosomal Dominant)1 | | SPG121 2 | | Reticulon-21 | | Neuroendocrine-Specific Protein-Like I2 3 | | Neuroendocrine-Specific Protein-Like 13 | | NSPLI2 3 | | |
Export aliases for RTN2 gene to outside databasesPrevious GC identifers: GC19M046631 GC19M046379 GC19M050663 GC19M050680 GC19M042419 |
Summaries for RTN2 gene(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 RTN2: This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubularendoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcriptvariants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomaldominant spastic paraplegia-12. (provided by RefSeq, Apr 2012) Gene Wiki entry for RTN2
|
Genomic Views for RTN2 gene
(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_000019.9 NC_018930.1 NT_011109.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RTN2 gene promoter: CREB deltaCREB Other transcription factors
Search SABiosciences Chromatin IP Primers for RTN2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RTN2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.2-q13.3RTN2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M045988: view genomic region
(about GC identifiers)
Start:
|
45,988,547 bp from pter |
End:
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46,000,319 bp from pter |
Size:
|
11,773 bases |
Orientation:
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minus strand |
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Proteins for RTN2 gene
(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: RTN2_HUMAN, O75298 (See
protein sequence)Recommended Name: Reticulon-2 Size: 545 amino acids; 59264 Da
Subunit: Interacts with isoform 1 but not isoform 3 of SPAST
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Secondary accessions: O60509 Q7RTM6 Q7RTN1 Q7RTN2Alternative splicing, Alternative initiation: 3 isoforms: O75298-1 O75298-2 O75298-3 (Produced by alternative initiation at Met-341 of isoform RTN2-A)Explore the universe of human proteins at neXtProt for RTN2: NX_O75298
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O75298 RTN2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_005610.1 NP_996783.1 NP_996784.1 ENSEMBL proteins: ENSP00000245923 ENSP00000398178 ENSP00000468144 ENSP00000466619 ENSP00000345127 ENSP00000467863 ENSP00000466441 ENSP00000465390 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005783 | endoplasmic reticulum |
IDA | -- | | GO:0030176 | integral to endoplasmic reticulum membrane |
NAS | 9693037 |
RTN2 for ontologies About GeneDecksing
RTN2 Antibody Products: Assay Products for RTN2: |
Protein
Domains / Families for RTN2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RTN2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O75298ProtoNet protein and cluster: O75298 1 Blocks protein family: IPB003388 Reticulon
UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298Similarity: Contains 1 reticulon domain |
Function for RTN2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: Genatlas biochemistry entry for RTN2:reticulon 2 neuroendocrine specific protein-like sequence 1,with two alternative spliced forms RTN2A,RTN2B and atruncated RTN2C form,highly expressed in skeletal muscle
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RTN2 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RTN2 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTN2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004871 | signal transducer activity |
NAS | -- | | GO:0005515 | protein binding |
IPI | -- |
RTN2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for RTN2: Animal Models: Mouse knock-out Rtn2tm1Lex for RTN2 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Rtn2):
RTN2 for phenotypes About GeneDecksing
|
Pathways & Interactions for RTN2 gene
(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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RTN2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 1 Interacting protein for RTN2 (O752983 ENSP000002459234) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007165 | signal transduction |
NAS | -- | | GO:0008219 | cell death |
IEA | -- |
RTN2 for ontologies About GeneDecksing
|
Drugs & Compounds for RTN2 gene(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 Tocris compounds for RTN2 Search CenterWatch for drugs/clinical trials and news about RTN2 
|
Transcripts for RTN2 gene(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,
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 RTN2 gene (4 alternative transcripts): NM_005619.4 NM_206900.2 NM_206901.2 NM_206902.1 Unigene Cluster for RTN2: Reticulon 2 Hs.47517 [show with all ESTs]Unigene Representative Sequence: NM_00561914 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000245923(uc002pcb.3) ENST00000430715 ENST00000587597 ENST00000590526 ENST00000344680(uc002pcc.3 uc002pcd.3) ENST00000591286 ENST00000588036 ENST00000593187 ENST00000590746 ENST00000593129 ENST00000591789 ENST00000589628 ENST00000592064 ENST00000589384
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RTN2 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RTN2 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): RTN2 (NM_206900) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RTN2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RTN2  |
Additional cDNA sequence: AF004222.1 AF004223.1 AF004224.1 AF038540.1 AK291967.1 AK314158.1 BC014244.2 BC073874.1 8 DOTS entries: DT.443768 DT.121420775 DT.100779580 DT.100779588 DT.100779586 DT.100807198 DT.103485 DT.95170984 24/165 AceView cDNA sequences (see all 165): NM_005619 BC073874 F12983 AF038540 BM716204 BQ671465 BM929560 F27976 BK001689 BK001691 BK001686 BE550126 T08685 BI754303 AF004223 NM_206900 BM671503 NM_206902 CF456317 BQ636781 CB852178 BX103682 BQ064611 BK001687 GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for RTN2 (see all 10) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | |
| SP1: | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP5: | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   |
ECgene alternative splicing isoforms for RTN2
|
Expression for RTN2 gene
(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
| RTN2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GGGCCCAGGG
About this image See RTN2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RTN2
SOURCE GeneReport for Unigene cluster: Hs.47517 UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298Tissue specificity: Isoform RTN2-C is highly expressed in skeletal muscle SABiosciences Custom PCR Arrays for RTN2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RTN2 Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTN2 |
Orthologs for RTN2 gene
(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 RTN2 gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for RTN2 (if available) TreeFam Gene Tree for RTN2 (if available)  |
Paralogs for RTN2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for RTN2 gene
- RTN32 RTN12 RTN42
4 SIMAP similar genes for RTN2 using alignment to 8 protein entries: RTN2_HUMAN (see all proteins):RTN1 NOGOC RTN4 RTN3
RTN2 for paralogs About GeneDecksing
|
Genomic Variants for RTN2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 19 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for RTN2 (45988547 - 46000319 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for RTN2: -- Human Gene Mutation Database (HGMD): RTN2
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RTN2 |
|
Disorders
/ Diseases for RTN2 gene
(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
|
RTN2 for disorders About GeneDecksing
OMIM gene information: 603183
OMIM disorders: --
UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298
Defects in RTN2 are the cause of spastic paraplegia autosomal dominant type 12 (SPG12) [MIM:604805]. A form ofspastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticityof the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may includedifficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Insome forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness mayspread to other parts of the body 8 diseases for RTN2: About MalaCardsspastic paraplegia 12 spastic paraplegia paraplegia spasticity fanconi's anemia anemia neuronitis hereditary spastic paraplegia 1 disease from the University of Copenhagen DISEASES database for RTN2:Paraplegia Human Genome Epidemiology (HuGE) Navigator: RTN2 (1 document) Export disorders for RTN2 gene to outside databases
|
Publications for RTN2 gene (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 RTN2 gene, integrated from 9 sources (see all 16): (articles sorted by number of sources associating them with RTN2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular cloning of a novel mouse gene with predominant muscle and neural expression. (PubMed id 9530622)1, 2, 3, 9 Geisler J.G.... Mucenski M.L. (1998)
- Mutations in the ER-shaping protein reticulon 2 cause the axon- degenerative disorder hereditary spastic paraplegia type 12. (PubMed id 22232211)1, 2, 3 Montenegro G....Zuchner S. (2012)
- cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons. (PubMed id 9693037)1, 2, 9 Roebroek A.J.M.... Van de Ven W.J.M. (1998)
- A reticular rhapsody: phylogenic evolution and nomenclature of the RTN/Nogo gene family. (PubMed id 12832288)1, 2 Oertle T.... Schwab M.E. (2003)
- Detailed comparative map of human chromosome 19q and related regions of the mouse genome. (PubMed id 8812484)1, 3 Stubbs L....Ashworth L.K. (1996)
- Nspl1, a new Z-band-associated protein. (PubMed id 10672514)1, 9 Geisler J.G....Mucenski M.L. (1999)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Functional role of neuroendocrine-specific protein-li ke 1 in membrane translocation of GLUT4. (PubMed id 19720795)1 Ikemoto T....Endo M. (2009)
- Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1. (PubMed id 18096700)1 Liu Y....Rothstein J.D. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for RTN2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RTN2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RTN2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RTN2 gene(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
|
| Name | Description |
| PharmGKB entry for RTN2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RTN2 gene: Search GeneIP for patents involving RTN2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for RTN2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTN2 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RTN2 |
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