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    RTN2 reticulon 2 [ Homo sapiens (human) ]

    Gene ID: 6253, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RTN2provided by HGNC
    Official Full Name
    reticulon 2provided by HGNC
    Primary source
    HGNC:HGNC:10468
    See related
    Ensembl:ENSG00000125744 MIM:603183; AllianceGenome:HGNC:10468
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NSP2; NSPL1; NSPLI; SPG12
    Summary
    This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]
    Expression
    Broad expression in brain (RPKM 9.6), placenta (RPKM 7.1) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45485294..45497047, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48312543..48326854, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45988552..46000305, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45971355-45972256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14799 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene tRNA-SeC (anticodon TCA) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10774 Neighboring gene uncharacterized LOC107985314 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46010402-46011186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10779 Neighboring gene vasodilator stimulated phosphoprotein Neighboring gene uncharacterized LOC107985315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46025801-46026353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10780

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression. Wang G, et al. Cell Signal, 2023 Aug. PMID 37196774
    2. RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer. Zheng X, et al. Mol Med Rep, 2022 Nov. PMID 36177918, Free PMC Article
    3. New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12. Tian W, et al. Ann Clin Transl Neurol, 2022 Aug. PMID 35684947, Free PMC Article
    4. Role of host reticulon proteins in rearranging membranes for positive-strand RNA virus replication. Diaz A, et al. Curr Opin Microbiol, 2012 Aug. PMID 22621853, Free PMC Article
    5. Clinical and genetic study of a large Italian family linked to SPG12 locus. Orlacchio A, et al. Neurology, 2002 Nov 12. PMID 12427890

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
      Title: O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
    2. RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer.
      Title: RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer.
    3. New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
      Title: New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
    4. Results implicate reticulon 2 in axonopathy, show that this protein participates in a network of interactions among hereditary spastic paraplegia proteins involved in endoplasmic reticulum shaping.
      Title: Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
    5. Discusses cloning of mouse neuroendocrine-specific protein-like 1, in addition to partial cloning of the human ortholog. Also studies expression of both the mouse and human genes.
      Title: Molecular cloning of a novel mouse gene with predominant muscle and neural expression.
    6. sk-NSPl1 is a novel dantrolene receptor that plays an important role in membrane translocation of GLUT4 induced by contraction/exercise. The 23-kDa sk-NSPl1 may also be involved in the regulation of glucose levels in the whole body.
      Title: Functional role of neuroendocrine-specific protein-like 1 in membrane translocation of GLUT4.
    7. RTN2B functions as a positive regulator in the delivery of EAAC1 from the ER to the cell surface.
      Title: Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 12
    MedGen: C1858106 OMIM: 604805 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of reticulon 2 (RTN2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within intracellular protein transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of glucose import ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    reticulon-2
    Names
    NSP-like protein 1
    NSP-like protein I
    neuroendocrine-specific protein-like I

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032157.1 RefSeqGene

      Range
      5007..16760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005619.5 → NP_005610.1  reticulon-2 isoform A

      See identical proteins and their annotated locations for NP_005610.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (A).
      Source sequence(s)
      AF004222, BC073874, BK001687
      Consensus CDS
      CCDS12665.1
      UniProtKB/Swiss-Prot
      O60509, O75298, Q7RTM6, Q7RTN1, Q7RTN2
      UniProtKB/TrEMBL
      Q6GMT0
      Related
      ENSP00000245923.3, ENST00000245923.9
      Conserved Domains (1) summary
      pfam02453
      Location:345 → 509
      Reticulon; Reticulon

    2. NM_206900.3 → NP_996783.1  reticulon-2 isoform B

      See identical proteins and their annotated locations for NP_996783.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (B), that is missing an internal segment compared to isoform A.
      Source sequence(s)
      BC073874, BK001688
      Consensus CDS
      CCDS12666.1
      UniProtKB/TrEMBL
      A8K7F2
      Related
      ENSP00000345127.3, ENST00000344680.8
      Conserved Domains (1) summary
      pfam02453
      Location:272 → 436
      Reticulon; Reticulon

    3. NM_206901.3 → NP_996784.1  reticulon-2 isoform C

      See identical proteins and their annotated locations for NP_996784.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (C) has a shorter N-terminus when compared to isoform A, and is presumably transcribed from an internal promoter.
      Source sequence(s)
      AC138534, AF004224, DA898294
      Consensus CDS
      CCDS46114.1
      UniProtKB/Swiss-Prot
      O75298
      UniProtKB/TrEMBL
      A8K7F2
      Related
      ENSP00000398178.1, ENST00000430715.6
      Conserved Domains (1) summary
      pfam02453
      Location:5 → 169
      Reticulon; Reticulon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45485294..45497047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48312543..48326854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321705.1 → XP_054177680.1  reticulon-2 isoform X2

    2. XM_054321704.1 → XP_054177679.1  reticulon-2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_206902.1: Suppressed sequence

      Description
      NM_206902.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75298.1 GenPept UniProtKB/Swiss-Prot:O75298

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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