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    NSUN2 NOP2/Sun RNA methyltransferase family member 2 [ Homo sapiens (human) ]

    Gene ID: 54888, updated on 16-Feb-2017
    Official Symbol
    NSUN2provided by HGNC
    Official Full Name
    NOP2/Sun RNA methyltransferase family member 2provided by HGNC
    Primary source
    HGNC:HGNC:25994
    See related
    Ensembl:ENSG00000037474 MIM:610916; Vega:OTTHUMG00000090455
    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
    MISU; MRT5; SAKI; TRM4
    Summary
    This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
    Orthologs
    Location:
    5p15.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (6599239..6633360, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6599352..6633473, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374639 Neighboring gene ubiquitin conjugating enzyme E2 Q family like 1 Neighboring gene long intergenic non-protein coding RNA 1018 Neighboring gene steroid 5 alpha-reductase 1 Neighboring gene long intergenic non-protein coding RNA 2102 Neighboring gene poly(A) RNA polymerase D7, non-canonical

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation, autosomal recessive 5
    MedGen: C1970199 OMIM: 611091 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with NOP2/Sun RNA methyltransferase family, member 2 (NSUN2) is identified in a series of six affinity purification/mass spectrometry screens PubMed

    Go to the HIV-1, Human Interaction Database

    • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
      Aurora B signaling, organism-specific biosystem
      Aurora B signaling
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • tRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
      tRNA modification in the nucleus and cytosol, organism-specific biosystemAt least 92 distinct tRNA nucleotide base modifications have been found. The modifications are made post-transcriptionally by a large group of disparate enzymes located in the nucleus, cytosol, and m...
    • tRNA processing, organism-specific biosystem (from REACTOME)
      tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20303

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA (cytosine-5-)-methyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    tRNA (cytosine-5-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle maturation IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic cell cycle checkpoint IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    tRNA methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA modification TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    chromatoid body IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    tRNA (cytosine(34)-C(5))-methyltransferase
    Names
    5-methycytoisine methyltransferase
    Myc-induced SUN-domain-containing protein
    NOL1/NOP2/Sun domain family, member 2
    NOP2/Sun domain family, member 2
    myc-induced SUN domain-containing protein
    substrate of AIM1/Aurora kinase B
    tRNA (cytosine-5-)-methyltransferase NSUN2
    tRNA methyltransferase 4 homolog
    NP_001180384.1
    NP_060225.4

    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_028215.1 RefSeqGene

      Range
      5001..39122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193455.1NP_001180384.1  tRNA (cytosine(34)-C(5))-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_001180384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB255451, AK298980, BC001041, BF000644, BG387061
      Consensus CDS
      CCDS54832.1
      UniProtKB/Swiss-Prot
      Q08J23
      Related
      ENSP00000420957, OTTHUMP00000220641, ENST00000506139, OTTHUMT00000365825
      Conserved Domains (2) summary
      TIGR00446
      Location:79394
      nop2p; NOL1/NOP2/sun family putative RNA methylase
      cl17173
      Location:134392
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_017755.5NP_060225.4  tRNA (cytosine(34)-C(5))-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_060225.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB255451, BC001041, BF000644
      Consensus CDS
      CCDS3869.1
      UniProtKB/Swiss-Prot
      Q08J23
      Related
      ENSP00000264670, OTTHUMP00000115518, ENST00000264670, OTTHUMT00000206902
      Conserved Domains (2) summary
      TIGR00446
      Location:78429
      nop2p; NOL1/NOP2/sun family putative RNA methylase
      cl17173
      Location:169427
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RNA

    1. NR_037947.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This causes a frame-shift and premature translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB255451, AK055456, BC001041
      Related
      ENST00000504374, OTTHUMT00000365826

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      6599239..6633360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      6599051..6633433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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