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    RTN2 reticulon 2 [ Homo sapiens (human) ]

    Gene ID: 6253, updated on 9-Dec-2024

    Summary

    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; HMNR11
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RTN2 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45485294..45497047, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48312543..48326854, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endoplasmic reticulum tubular network formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of D-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
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005619.5NP_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:345509
      Reticulon; Reticulon
    2. NM_206900.3NP_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:272436
      Reticulon; Reticulon
    3. NM_206901.3NP_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:5169
      Reticulon; Reticulon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_054321705.1XP_054177680.1  reticulon-2 isoform X2

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

      UniProtKB/TrEMBL
      Q6GMT0

    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.