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NSUN2 Gene

protein-coding   GIFtS: 60
GCID: GC05M006599

NOP2/Sun RNA Methyltransferase Family, Member 2

(Previous names: NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family,...)
(Previous symbol: MRT5)
  See NSUN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NOP2/Sun RNA Methyltransferase Family, Member 21 2     TRNA Methyltransferase 4 Homolog2 3
MRT51 2 5     MISU2 5
SAKI2 3 5     TRNA Methyltransferase 4 Homolog (S. Cerevisiae)1
TRM42 3 5     5-Methycytoisine Methyltransferase2
Mental Retardation, Non-Syndromic, Autosomal Recessive, 51 2     NOL1/NOP2/Sun Domain Family 22
NOL1/NOP2/Sun Domain Family, Member 21 2     TRNA (Cytosine(34)-C(5))-Methyltransferase2
NOP2/Sun Domain Family, Member 21 2     TRNA (Cytosine-5-)-Methyltransferase NSUN22
Myc-Induced SUN-Domain-Containing Protein1 2     EC 2.1.1.2033
Myc-Induced SUN Domain-Containing Protein2 3     Misu3
Substrate Of AIM1/Aurora Kinase B2 3     TRNA (Cytosine-5-)-Methyltransferase3
hTrm42 3     EC 2.1.18
NOL1/NOP2/Sun Domain Family Member 22 3     EC 2.1.1.298

External Ids:    HGNC: 259941   Entrez Gene: 548882   Ensembl: ENSG000000374747   OMIM: 6109165   UniProtKB: Q08J233   

Export aliases for NSUN2 gene to outside databases

Previous GC identifer: GC05M006654


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NSUN2 Gene:
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)

GeneCards Summary for NSUN2 Gene:
NSUN2 (NOP2/Sun RNA methyltransferase family, member 2) is a protein-coding gene. Diseases associated with NSUN2 include dirofilariasis, and mental retardation, autosomal recessive 5. GO annotations related to this gene include tRNA (cytosine-5-)-methyltransferase activity and tRNA binding.

UniProtKB/Swiss-Prot: NSUN2_HUMAN, Q08J23
Function: RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates
cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at
positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth
and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its
methyltransferase activity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NSUN2 gene promoter:
         Max1   COUP-TF1   Pax-5   COUP   HNF-4alpha2   HNF-4alpha1   GATA-6   COUP-TF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSUN2 promoter sequence
   Search Chromatin IP Primers for NSUN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSUN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.31   Ensembl cytogenetic band:  5p15.31   HGNC cytogenetic band: 5p15.32

NSUN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSUN2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M006599:  view genomic region     (about GC identifiers)

Start:
6,599,352 bp from pter      End:
6,633,473 bp from pter
Size:
34,122 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NSUN2_HUMAN, Q08J23 (See protein sequence)
Recommended Name: tRNA (cytosine(34)-C(5))-methyltransferase  
Size: 767 amino acids; 86471 Da
Subunit: Interacts with NPM1 and NCL during interphase; interaction is disrupted following phosphorylation at
Ser-139
Sequence caution: Sequence=BAA91075.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14762.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K529 B2RNR4 B3KP09 B4DQW2 G3V1R4 Q9BVN4 Q9H858 Q9NXD9
Alternative splicing: 3 isoforms:  Q08J23-1   Q08J23-2   Q08J23-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSUN2: NX_Q08J23

Explore proteomics data for NSUN2 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the
    interaction with NPM11
  • Ubiquitination2 at Lys46, Lys144, Lys257, Lys356, Lys577, Lys650, Lys654, Lys660
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NSUN2 (Q08J23) (see all 12)
     QNTGGFF  LKIVPEG  VLKYEPD  VYSTCSL 


    See NSUN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180384.1  NP_060225.4  

    ENSEMBL proteins: 
     ENSP00000264670   ENSP00000421783   ENSP00000420957   ENSP00000426459   ENSP00000444338  

    NSUN2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for NSUN2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NSUN: NOP2/Sun domain containing

    3 InterPro protein domains:
     IPR023270 RCMT_NCL1
     IPR023267 RCMT
     IPR001678 Fmu/NOL1/Nop2p

    Graphical View of Domain Structure for InterPro Entry Q08J23

    ProtoNet protein and cluster: Q08J23

    1 Blocks protein domain: IPB001678 Bacterial Sun/eukaryotic nucleolar Nop1/Nop2

    UniProtKB/Swiss-Prot: NSUN2_HUMAN, Q08J23
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily


    Find genes that share domains with NSUN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSUN2_HUMAN, Q08J23
    Function: RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates
    cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at
    positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth
    and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its
    methyltransferase activity
    Catalytic activity: S-adenosyl-L-methionine + cytosine(34) in tRNA precursor = S-adenosyl-L-homocysteine +
    5-methylcytosine(34) in tRNA precursor
    Enzyme regulation: Inhibited by magnesium ions

         Enzyme Numbers (IUBMB): EC 2.1.12 EC 2.1.1.2031 EC 2.1.1.292

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0016428tRNA (cytosine-5-)-methyltransferase activity IDA17071714
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with NSUN2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NSUN2:
     Actin fiber cells  Decreased viability of wild-ty 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nsun2):
     adipose tissue  behavior/neurological  craniofacial  growth/size/body  hematopoietic system 
     homeostasis/metabolism  integument  limbs/digits/tail  reproductive system  skeleton 
     vision/eye 

    Find genes that share phenotypes with NSUN2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NSUN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NSUN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NSUN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NSUN2

    miRNA
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    miRTarBase miRNAs that target NSUN2:
    hsa-let-7b-5p (MIRT052294), hsa-mir-149-5p (MIRT045478), hsa-mir-193b-3p (MIRT041441), hsa-mir-124-3p (MIRT022997), hsa-mir-16-5p (MIRT051217), hsa-mir-125b-5p (MIRT045952), hsa-mir-1260b (MIRT052738)

    Block miRNA regulation of human, mouse, rat NSUN2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate NSUN2:
    hsa-miR-124 hsa-miR-9* hsa-miR-4330 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidNSUN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NSUN2

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSUN2_HUMAN, Q08J23: Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle. Note=Concentrated in the nucleolus
    during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S
    ribosomal RNA
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA17071714
    GO:0005737cytoplasm IDA17071714
    GO:0005819spindle IEA--

    Find genes that share ontologies with NSUN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NSUN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Aurora B signaling
    Aurora B signaling


    1 BioSystems Pathway for NSUN2
        Aurora B signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NSUN2
    Interactions:

        Search GeneGlobe Interaction Network for NSUN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NSUN2 (Q08J233 ENSP000002646704) via UniProtKB, MINT, STRING, and/or I2D (see all 160)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AURKBQ96GD43, ENSP000003139504I2D: score=2 STRING: ENSP00000313950
    GCN1L1Q926163, ENSP000003006484I2D: score=1 STRING: ENSP00000300648
    METTL1Q9UBP63, ENSP000003144414I2D: score=1 STRING: ENSP00000314441
    MRTO4Q9UKD23, ENSP000003643204I2D: score=1 STRING: ENSP00000364320
    NCLP193383, ENSP000003181954I2D: score=1 STRING: ENSP00000318195
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--
    GO:0030488tRNA methylation IDA17071714

    Find genes that share ontologies with NSUN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NSUN2

    2 HMDB Compounds for NSUN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Methylcytosine4-Amino-5-methyl-2-pyrimidinol (see all 5)554-01-8--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NSUN2 gene (2 alternative transcripts): 
    NM_001193455.1  NM_017755.5  

    Unigene Cluster for NSUN2:

    NOP2/Sun RNA methyltransferase family, member 2
    Hs.481526  [show with all ESTs]
    Unigene Representative Sequence: AB255451
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264670(uc003jdu.3 uc011cmk.2 uc003jdv.3) ENST00000504374
    ENST00000505892(uc003jdt.3) ENST00000513888 ENST00000506139 ENST00000514127
    ENST00000502932 ENST00000507888 ENST00000505264 ENST00000539938
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate NSUN2:
    hsa-miR-124 hsa-miR-9* hsa-miR-4330 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidNSUN2 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NSUN2 (NM_017755)
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      QuantiFast Probe-based Assays in human, mouse, rat NSUN2

    Additional mRNA sequence: 

    AB255451.1 AK000310.1 AK023994.1 AK291144.1 AK298980.1 BC001041.2 BC137083.1 NR_037947.1 

    17 DOTS entries:

    DT.100783665  DT.454615  DT.92436837  DT.95139539  DT.40211195  DT.100783662  DT.40131737  DT.97777180 
    DT.120829811  DT.40130591  DT.75188896  DT.95285941  DT.95285944  DT.95285945  DT.95360549  DT.92436842 
    DT.99963649 

    Selected AceView cDNA sequences (see all 206):

    BE671921 AA768362 CD243498 AI824524 BM707451 BQ637182 CA411734 AA974761 
    AI262292 BM781977 BM724972 CA422204 BM811101 BU634399 AI861985 BC001041 
    BM742367 BU632946 CB160431 CA427073 NM_017755 AW300653 AI334221 BQ689094 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NSUN2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
    SP1:                                                  -     -                                                                                   -               
    SP2:                                                        -                                                                                   -               
    SP3:                                                        -                                                                                                   
    SP4:                                                                                                                                      -     -               
    SP5:                                                                                                                                -     -     -               

    ExUns: 20 ^ 21a · 21b · 21c
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NSUN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NSUN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTGGGGTT
    NSUN2 Expression
    About this image

    NSUN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSUN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481526

    UniProtKB/Swiss-Prot: NSUN2_HUMAN, Q08J23
    Tissue specificity: Expressed in adult and fetal brain and in lymphoblastoid cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSUN2 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsun21 , 5 NOL1/NOP2/Sun domain family member 21, 5 83.33(n)1
    88.81(a)1
      13 (35.55 cM)5
    281141  NM_145354.51  NP_663329.31 
     695337465 
    chicken
    (Gallus gallus)
    Aves NSUN21 NOP2/Sun RNA methyltransferase family, member 2 74.77(n)
    80.06(a)
      420938  NM_001031004.1  NP_001026175.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSUN26
    NOP2/Sun RNA methyltransferase family, member 2
    68(a)
    1 ↔ 1
    4(83036929-83071407)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA974564.12   -- 75.42(n)    CA974564.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc65a082 wufc65a08 74.32(n)   325292  BC045365.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nsun21 NOP2-Sun domain family, member 2 ortholog 51.88(n)
    46.85(a)
      45064  NM_143750.3  NP_652007.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y48G8AL.51 Y48G8AL.5 50.12(n)
    41.61(a)
      171697  NM_058429.4  NP_490830.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCL1(YBL024W)4
    NCL11
    S-adenosyl-L-methionine-dependent tRNA: m5C-methyltransferase, more4
    NCL11
    48.44(n)1
    39.56(a)1
      2(172534-174588)4
    8522571, 4  NP_009529.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G224001 AT2G22400 51.58(n)
    43.14(a)
      816771  NM_179693.1  NP_850024.1 
    rice
    (Oryza sativa)
    Liliopsida Os.56812 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.84(n)    AK073815.1 


    ENSEMBL Gene Tree for NSUN2 (if available)
    TreeFam Gene Tree for NSUN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NSUN2 (see all 1056)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685304
    Mental retardation, autosomal recessive 5 (MRT5)4--see VAR_0685302 G R mis40--------
    rs1395670531,2
    C--6557767(+) GGGCCA/GCTGGA 3 -- ds50010--------
    rs1444412671,2
    --6557796(+) GGGTGA/GCCTGC 3 -- ds50010--------
    rs77203971,2
    C,F,A,H--6557799(+) TGACCT/CGCATC 3 -- ds500118Minor allele frequency- C:0.44NA NS EA WA CSA 908
    rs1478991191,2
    C--6557816(+) TCTGAC/TGCCTA 3 -- ds50010--------
    rs1399397491,2
    C--6557847(+) GCCTCC/TGTTTC 3 -- ds50010--------
    rs1150132261,2
    C,F--6557874(+) AGCAAG/AGGGGT 3 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1454688431,2
    --6557890(+) AACACA/GTCTGT 3 -- ds50010--------
    rs1455855381,2
    C--6557910(+) TCAAA-/GGGTTC 3 -- ds50010--------
    rs1893619691,2
    --6557954(+) GGATGC/TAAATG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for NSUN2 (6599352 - 6633473 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NSUN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2729691CNV Deletion23290073
    esv2729690CNV Deletion23290073
    esv2503876CNV Insertion19546169
    nsv880892CNV Loss21882294
    nsv881385CNV Loss21882294

    Human Gene Mutation Database (HGMD): NSUN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSUN2
    DNA2.0 Custom Variant and Variant Library Synthesis for NSUN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610916   
    OMIM disorders: 611091  
    UniProtKB/Swiss-Prot: NSUN2_HUMAN, Q08J23
  • Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for NSUN2:    
    About MalaCards
    dirofilariasis    mental retardation, autosomal recessive 5    dubowitz syndrome    mental retardation, autosomal recessive 43

    2 diseases from the University of Copenhagen DISEASES database for NSUN2:
    Dubowitz Syndrome     Dirofilariasis

    Find genes that share disorders with NSUN2           About GenesLikeMe

    Genetic Association Database (GAD): NSUN2
    Human Genome Epidemiology (HuGE) Navigator: NSUN2 (5 documents)

    Export disorders for NSUN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NSUN2 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with NSUN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in NSUN2 cause autosomal-recessive intellectual disability. (PubMed id 22541559)1, 2, 3 Abbasi-Moheb L....Kuss A.W. (Am. J. Hum. Genet. 2012)
    2. Identification of human tRNA:m5C methyltransferase catalysing intron- dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). (PubMed id 17071714)1, 2, 3 Brzezicha B.... Szweykowska-Kulinska Z. (Nucleic Acids Res. 2006)
    3. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. (PubMed id 22541562)1, 2 Khan M.A....Vincent J.B. (Am. J. Hum. Genet. 2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability. (PubMed id 19596847)1, 2 Hussain S.... Frye M. (J. Cell Biol. 2009)
    7. Aurora-B regulates RNA methyltransferase NSUN2. (PubMed id 17215513)1, 2 Sakita-Suto S.... Tatsuka M. (Mol. Biol. Cell 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54888 HGNC: 25994 AceView: NSUN2 Ensembl:ENSG00000037474 euGenes: HUgn54888
    ECgene: NSUN2 H-InvDB: NSUN2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NSUN2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NSUN2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NSUN2 gene:
    Search GeneIP for patents involving NSUN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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