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RTN2 Gene

protein-coding   GIFtS: 58
GCID: GC19M045988

Reticulon 2

(Previous name: spastic paraplegia 12 (autosomal dominant))
(Previous symbol: SPG12)
  See RTN2-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)
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Aliases
Reticulon 21 2     NSPLI2 3
NSP-Like Protein 11 2 3     NSP-Like Protein I2 3
SPG121 2 5     Spastic Paraplegia 12 (Autosomal Dominant)1
NSPL12 3 5     NSP22
Neuroendocrine-Specific Protein-Like 11 3     reticulon-22
Neuroendocrine-Specific Protein-Like I2 3     

External Ids:    HGNC: 104681   Entrez Gene: 62532   Ensembl: ENSG000001257447   OMIM: 6031835   UniProtKB: O752983   

Export aliases for RTN2 gene to outside databases

Previous GC identifers: GC19M046631 GC19M046379 GC19M050663 GC19M050680 GC19M042419


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RTN2 Gene:
This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of
tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced
transcript variants encoding different isoforms have been identified. Mutations at this locus have been
associated with autosomal dominant spastic paraplegia-12. (provided by RefSeq, Apr 2012)

GeneCards Summary for RTN2 Gene:
RTN2 (reticulon 2) is a protein-coding gene. Diseases associated with RTN2 include spastic paraplegia 12, autosomal dominant, and spastic paraplegia 12. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is RTN3.

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RTN2 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRTN2 promoter sequence
   Search Chromatin IP Primers for RTN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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-q13.3

RTN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RTN2 gene location

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:
46,000,319 bp from pter
Size:
11,773 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: O60509 Q7RTM6 Q7RTN1 Q7RTN2
Alternative 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

Explore proteomics data for RTN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RTN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_005610.1  NP_996783.1  NP_996784.1  

    ENSEMBL proteins: 
     ENSP00000245923   ENSP00000398178   ENSP00000468144   ENSP00000466619   ENSP00000345127  
     ENSP00000467863  

    RTN2 Human Recombinant Protein Products:

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    Novus Biologicals RTN2 Proteins
    Novus Biologicals RTN2 Lysates
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    Cloud-Clone Corp. Proteins for RTN2

     
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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:
     IPR003388 Reticulon

    Graphical View of Domain Structure for InterPro Entry O75298

    ProtoNet protein and cluster: O75298

    1 Blocks protein domain: IPB003388 Reticulon

    UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298
    Similarity: Contains 1 reticulon domain


    Find genes that share domains with RTN2           About GenesLikeMe


    (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,
    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:
         Genatlas biochemistry entry for RTN2:
    reticulon 2 neuroendocrine specific protein-like sequence 1,with two alternative spliced forms RTN2A,RTN2B and a
    truncated RTN2C form,highly expressed in skeletal muscle

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity ----
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with RTN2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RTN2:
     Decreased p24 protein expressi  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rtn2):
     homeostasis/metabolism  muscle 

    Find genes that share phenotypes with RTN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rtn2tm1Lex for RTN2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RTN2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RTN2

    miRNA
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    miRTarBase miRNAs that target RTN2:
    hsa-mir-20a-5p (MIRT050482), hsa-mir-375 (MIRT019899), hsa-mir-335-5p (MIRT018584)

    Block miRNA regulation of human, mouse, rat RTN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RTN2 (see all 15):
    hsa-miR-3690 hsa-miR-566 hsa-miR-605 hsa-miR-519c-3p hsa-miR-519a hsa-miR-3692 hsa-miR-519b-3p hsa-miR-214
    SwitchGear 3'UTR luciferase reporter plasmidRTN2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RTN2
    Predesigned siRNA for gene silencing in human, mouse, rat RTN2

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    OriGene ORF clones in mouse, rat for RTN2
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    GenScript: all cDNA clones in your preferred vector (see all 3): RTN2 (NM_206900)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RTN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RTN2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTN2


    (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 UniProtKB/Swiss-Prot
    RTN2_HUMAN, O75298: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytoskeleton1
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0014802terminal cisterna IEA--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane NAS9693037
    GO:0030315T-tubule IEA--

    Find genes that share ontologies with RTN2           About GenesLikeMe


    (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 RTN2
    Interactions:

        GeneGlobe Interaction Network for RTN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for RTN2 (O752983 ENSP000002459234) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152873, ENSP000003679104I2D: score=1 STRING: ENSP00000367910
    RABAC1ENSP000002220084STRING: ENSP00000222008
    SEC61BENSP000002236414STRING: ENSP00000223641
    WDFY1ENSP000002330554STRING: ENSP00000233055
    WDFY2ENSP000002981254STRING: ENSP00000298125
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0008219cell death IEA--
    GO:0046324regulation of glucose import IEA--
    GO:0065002intracellular protein transmembrane transport IEA--

    Find genes that share ontologies with RTN2           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 RTN2



    (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 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_005619
    14 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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RTN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RTN2 (see all 15):
    hsa-miR-3690 hsa-miR-566 hsa-miR-605 hsa-miR-519c-3p hsa-miR-519a hsa-miR-3692 hsa-miR-519b-3p hsa-miR-214
    SwitchGear 3'UTR luciferase reporter plasmidRTN2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RTN2
    Predesigned siRNA for gene silencing in human, mouse, rat RTN2
    Clone
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    OriGene clones in human, mouse for RTN2 (see all 18)
    OriGene ORF clones in mouse, rat for RTN2
    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
    Primer
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    OriGene qPCR primer pairs and template standards for RTN2
    OriGene qSTAR qPCR primer pairs in human, mouse for RTN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat RTN2
      QuantiTect SYBR Green Assays in human, mouse, rat RTN2
      QuantiFast Probe-based Assays in human, mouse, rat RTN2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 165):

    BC073874 CR612056 BQ671465 BQ636781 BC014244 BE552025 BI754303 AF004223 
    BK001690 T08685 F27976 AF004222 BM988274 AA350618 BM709148 NM_206900 
    AA436800 AI915284 BK001687 BE550126 BM671503 BX103682 BQ011380 NM_206901 

    GeneLoc Exon Structure

    Selected 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

    (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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    RTN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCCAGGG
    RTN2 Expression
    About this image


    RTN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
     
     Skeletal Muscle (Muscoskeletal System)
    RTN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RTN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.47517

    UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298
    Tissue specificity: Isoform RTN2-C is highly expressed in skeletal muscle

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    QuantiFast Probe-based Assays in human, mouse, rat RTN2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTN2

    (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 RTN2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rtn21 , 5 reticulon 2 (Z-band associated protein)1, 5 82.58(n)1
    83.44(a)1
      7 (9.54 cM)5
    201671  NM_013648.61  NP_038676.11 
     192826675 
    lizard
    (Anolis carolinensis)
    Reptilia RTN26
    reticulon 2
    66(a)
    1 ↔ 1
    AAWZ02036043(4602-13828)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.136452 Transcribed sequence with weak similarity to protein more 71.35(n)    BX724945.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rtn2a6
    rtn2b6
    reticulon 2b
    42(a)
    35(a)
    many → 1
    many → 1
    15(9146207-9167312) ENSDARG00000016088
    21(20202152-20213995) ENSDARG00000057027
    fruit fly
    (Drosophila melanogaster)
    Insecta Rtnl26
    CG428536
    (see all 3)
    --
    21(a)
    20(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3R(3354586-3355963)
    3L(18114032-18115089)
    worm
    (Caenorhabditis elegans)
    Secernentea ret-16
    Protein RET-1, isoform c
    3(a)
    1 → many
    V(14829177-14847312) WBGene00004336


    ENSEMBL Gene Tree for RTN2 (if available)
    TreeFam Gene Tree for RTN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RTN2 gene
    RTN32  RTN42  RTN12  
    3 SIMAP similar genes for RTN2 using alignment to 6 protein entries:     RTN2_HUMAN (see all proteins):
    RTN1    NOGOC    RTN4

    Find genes that share paralogs with RTN2           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 RTN2 (see all 346)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs664846301,2
    C--45989970(+) TGTTC-/TTTTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1464947391,2
    C--45993793(+) GTGTC-/TGTGTGT 3 -- int10--------
    rs562791321,2
    C--45993828(+) TGTGTGTGT/-  
            
    TTTGT
    3 -- int11Minor allele frequency- -:0.00NA 2
    rs1996187651,2
    C--45994150(+) TTTTT-/TGAGAC 3 -- int10--------
    rs1121989591,2
    C,F--45994770(+) TGAGCT/CGCCAT 3 -- int14Minor allele frequency- C:0.11WA NA EA 244
    rs2005961501,2
    --46177745(+) TTCTT-/TCTTTTT 3 -- ds50010--------
    rs730499491,2
    C--46177746(+) TCTTTC/TTTTTT 3 -- ds50010--------
    rs1137030111,2
    C--46177746(+) TTTTTT/-GAGAC 3 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs1470358971,2
    C--46177746(+) TCTTT-/CTTTTT 3 -- ds50010--------
    rs1825311501,2
    --46177782(+) CTGTCA/GCCGAG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for RTN2 (45988547 - 46000319 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RTN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912156CNV Loss21882294
    dgv3953n71CNV Loss21882294
    nsv833848CNV Loss17160897
    nsv912154CNV Loss21882294
    nsv912155CNV Loss21882294

    Human Gene Mutation Database (HGMD): RTN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RTN2
    DNA2.0 Custom Variant and Variant Library Synthesis for RTN2

    (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: 603183   
    OMIM disorders: 604805  
    UniProtKB/Swiss-Prot: RTN2_HUMAN, O75298
  • Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 3 diseases for RTN2:    
    About MalaCards
    spastic paraplegia 12, autosomal dominant    spastic paraplegia 12    paraplegia

    1 disease from the University of Copenhagen DISEASES database for RTN2:
    Paraplegia

    Find genes that share disorders with RTN2           About GenesLikeMe

    Genetic Association Database (GAD): RTN2
    Human Genome Epidemiology (HuGE) Navigator: RTN2 (1 document)

    Export disorders for RTN2 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 RTN2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with RTN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Mamm. Genome 1998)
    2. 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. (J. Clin. Invest. 2012)
    3. 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. (Genomics 1998)
    4. A reticular rhapsody: phylogenic evolution and nomenclature of the RTN/Nogo gene family. (PubMed id 12832288)1, 2 Oertle T.... Schwab M.E. (FASEB J. 2003)
    5. Detailed comparative map of human chromosome 19q and related regions of the mouse genome. (PubMed id 8812484)1, 3 Stubbs L....Ashworth L.K. (Genomics 1996)
    6. Nspl1, a new Z-band-associated protein. (PubMed id 10672514)1, 9 Geisler J.G....Mucenski M.L. (J. Muscle Res. Cell. Motil. 1999)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
    9. Functional role of neuroendocrine-specific protein-like 1 in membrane translocation of GLUT4. (PubMed id 19720795)1 Ikemoto T....Endo M. (Diabetes 2009)
    10. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)

    (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: 6253 HGNC: 10468 AceView: RTN2 Ensembl:ENSG00000125744 euGenes: HUgn6253
    ECgene: RTN2 H-InvDB: RTN2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for RTN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (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, LSBio, eBioscience, 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
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