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

    Gene ID: 54888, updated on 5-May-2013
    Official Symbol
    NSUN2provided by HGNC
    Official Full Name
    NOP2/Sun RNA methyltransferase family, member 2provided by HGNC
    Primary source
    HGNC:25994
    See related
    Ensembl:ENSG00000037474; HPRD:08620; 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]
    Location :
    5p15.31
    Sequence :
    Chromosome: 5; NC_000005.9 (6599352..6633473, complement)
    See NSUN2 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2Q family-like 1 Neighboring gene uncharacterized LOC255167 Neighboring gene steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Neighboring gene uncharacterized LOC100505625

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    2. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    3. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.
    4. Proteomic analysis of α4β1 integrin adhesion complexes reveals α-subunit-dependent protein recruitment. Byron A, et al. Proteomics, 2012 Jul. PMID 22623428.
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738.

    See all (40) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Enrolled a multiplex consanguineous family from the United Arab Emirates with many key clinical features of Dubowitz syndrome. Identified a homozygous splice mutation in the NSUN2 gene, encoding a conserved RNA methyltransferase.
      Title: Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
    2. findings show that NSun2, a transfer RNA methyltransferase, inhibits the turnover of p16(INK4) mRNA; conclude that NSun2-mediated methylation of the p16 3'UTR is a novel mechanism to stabilize p16 mRNA
      Title: The tRNA methyltransferase NSun2 stabilizes p16INK⁴ mRNA by methylating the 3'-untranslated region of p16.
    3. Increased gene copy number and high protein expression of NSUN2 is associated with cancers.
      Title: Frequent increased gene copy number and high protein expression of tRNA (cytosine-5-)-methyltransferase (NSUN2) in human cancers.
    4. The substitution of glycine to arginine at position 679 impairs the proper cellular localization of NSUN2 to the nucleolus. This mutation causes autosomal-recessive intellectual disability.
      Title: Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
    5. A deficiency in NSUN2 function causes intellectual disability in individuals homozygous for these mutations.
      Title: Mutations in NSUN2 cause autosomal-recessive intellectual disability.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. was extensive copy number gain, and increased mRNA and protein levels, of Misu in approximately one third of breast cancer cell lines and primary tumours examined, irrespective of tumour subtype
      Title: Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer.
    10. These results suggest a novel mechanism by which c-Myc promotes proliferation by stabilizing the mitotic spindle in fast-dividing cells via Misu and NuSAP.
      Title: The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability.
    Submit: New GeneRIF Correction See all (12)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NOL1/NOP2/Sun domain family, member 2 Q96GD4 AURKB    HPRD  PubMed  
    BioGRID:120236 BioGRID:106534 AARS    BioGRID  PubMed Co-fractionation 
    BioGRID:120236 BioGRID:115404 ACTR2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:115403 ACTR3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:115415 ARPC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:106902 ARRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:114646 AURKB    BioGRID  PubMed Biochemical Activity 
    BioGRID:120236 BioGRID:107262 CALR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:107263 CALU    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:113743 CUL5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:198624 Cdk1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:228987 Cep78    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:199254 Dync1h1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:122761 EFTUD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:108399 FBL    BioGRID  PubMed Co-fractionation 
    BioGRID:120236 BioGRID:114399 FUBP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:109215 GTF2E1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:109285 HARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:117567 KIAA1279    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:110771 NCL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120236 BioGRID:110929 NPM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120236 BioGRID:110954 NRD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:120779 OSGEP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:120524 PANK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:111223 PFDN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:111226 PFDN5    BioGRID  PubMed Affinity Capture-MS; Co-fractionation 
    BioGRID:120236 BioGRID:111404 PMS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:110742 PPP1R12A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:111508 PPP2CB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:123236 PUS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:202250 Plk1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:111840 RANGAP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:111894 RDX    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:112037 RPA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:112147 RPS27A    BioGRID  PubMed Co-fractionation 
    BioGRID:120236 BioGRID:112352 SH3GL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:119289 SH3GLB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:120236 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:120311 THG1L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:125211 TP53RK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:113098 TSN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:116782 TTLL12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:222149 Tubg1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:113165 UBA1    BioGRID  PubMed Co-fractionation 
    BioGRID:120236 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:117507 UBXN7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:121217 UGGT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:113255 VCAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120236 BioGRID:120092 WDR74    BioGRID  PubMed Co-fractionation 
    BioGRID:120236 BioGRID:121574 XPO5    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ20303

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    tRNA (cytosine-5-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    tRNA methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    tRNA (cytosine(34)-C(5))-methyltransferase
    Names
    tRNA (cytosine(34)-C(5))-methyltransferase
    hTrm4
    NOL1/NOP2/Sun domain family 2
    NOP2/Sun domain family, member 2
    tRNA methyltransferase 4 homolog
    substrate of AIM1/Aurora kinase B
    5-methycytoisine methyltransferase
    NOL1/NOP2/Sun domain family member 2
    NOL1/NOP2/Sun domain family, member 2
    Myc-induced SUN-domain-containing protein
    myc-induced SUN domain-containing protein
    tRNA (cytosine-5-)-methyltransferase NSUN2
    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_001193455.1 → NP_001180384.1  tRNA (cytosine(34)-C(5))-methyltransferase isoform 2

      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
      COG0144
      Location:56 – 396
      Blast Score: 540
      Sun; tRNA and rRNA cytosine-C5-methylases [Translation, ribosomal structure and biogenesis]
      cl16911
      Location:79 – 394
      Blast Score: 386
      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_017755.5 → NP_060225.4  tRNA (cytosine(34)-C(5))-methyltransferase isoform 1

      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
      pfam01189
      Location:102 – 427
      Blast Score: 291
      Nol1_Nop2_Fmu; NOL1/NOP2/sun family
      cl16911
      Location:78 – 429
      Blast Score: 386
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      6599352..6633473, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      6573722..6608099, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      6558258..6592619, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01016148.1 (27326..61703) None
    genomic AC010366.6 (27380..60921) None
    genomic AC027334.5 (101733..101996) None
    genomic AMYH01014880.1 (83458..117819) None
    genomic CH471102.2 EAX08105.1
      EAX08106.1
      EAX08107.1
    mRNA AB255451.1 BAF34150.1
    mRNA AK000310.1 BAA91075.1
    mRNA AK023994.1 BAB14762.1
    mRNA AK055456.1 BAG51521.1
    mRNA AK291144.1 BAF83833.1
    mRNA AK298980.1 BAG61074.1
    mRNA BC001041.2 AAH01041.3
    mRNA BC137083.1 AAI37084.1
    mRNA BF000644.1 None
    mRNA BG387061.1 None
    mRNA BQ689094.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08J23.2 GenPept UniProtKB/Swiss-Prot:Q08J23

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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