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    RTN2 reticulon 2 [ Homo sapiens (human) ]

    Gene ID: 6253, updated on 15-Jun-2019

    Summary

    Official Symbol
    RTN2provided by HGNC
    Official Full Name
    reticulon 2provided by HGNC
    Primary source
    HGNC:HGNC:10468
    See related
    Ensembl:ENSG00000125744 MIM:603183
    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 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]
    Expression
    Broad expression in brain (RPKM 9.6), placenta (RPKM 7.1) and 22 other tissues See more
    Orthologs

    Genomic context

    See RTN2 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (45485288..45497055, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45988546..46000313, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene microRNA 6088 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene uncharacterized LOC107985314 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene vasodilator stimulated phosphoprotein Neighboring gene uncharacterized LOC107985315

    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

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    terminal cisterna IEA
    Inferred from Electronic Annotation
    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)

    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
      4999..16766
      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
      O75298
      UniProtKB/TrEMBL
      A8K7F2, 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/Swiss-Prot
      O75298
      UniProtKB/TrEMBL
      A8K7F2, Q6GMT0
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

    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.
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