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NSUN4 Gene

protein-coding   GIFtS: 56
GCID: GC01P046805

NOP2/Sun Domain Family, Member 4

(Previous names: NOL1/NOP2/Sun domain family 4, NOL1/NOP2/Sun domain family,...)
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(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 Domain Family, Member 41 2     SHTAP2
Sperm Head And Tail Associated Protein1 2     Putative Methyltransferase NSUN42
NOL1/NOP2/Sun Domain Family Member 42 3     EC 2.1.1.-3
NOL1/NOP2/Sun Domain Family 41     EC 2.1.18
NOL1/NOP2/Sun Domain Family, Member 41     EC 2.1.1.298
5-Methylcytosine RRNA Methyltransferase NSUN42     

External Ids:    HGNC: 318021   Entrez Gene: 3873382   Ensembl: ENSG000001174817   OMIM: 6153945   UniProtKB: Q96CB93   

Export aliases for NSUN4 gene to outside databases

Previous GC identifers: GC01P046518 GC01P046578 GC01P044939


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NSUN4 Gene:
NSUN4 (NOP2/Sun domain family, member 4) is a protein-coding gene. GO annotations related to this gene include methyltransferase activity and RNA binding. An important paralog of this gene is NOP2.

UniProtKB/Swiss-Prot: NSUN4_HUMAN, Q96CB9
Function: 5-methylcytosine rRNA methyltransferase involved in mitochondrial ribosome large subunit biogenesis




(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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the NSUN4 gene promoter:
         AhR   AP-1   AML1a   NF-kappaB   Arnt   HNF-4alpha1   CP2   MRF-2   NF-kappaB1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSUN4 promoter sequence
   Search Chromatin IP Primers for NSUN4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSUN4


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p34

NSUN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSUN4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P046805:  view genomic region     (about GC identifiers)

Start:
46,805,849 bp from pter      End:
46,830,824 bp from pter
Size:
24,976 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NSUN4_HUMAN, Q96CB9 (See protein sequence)
Recommended Name: 5-methylcytosine rRNA methyltransferase NSUN4 precursor  
Size: 384 amino acids; 43089 Da
Subunit: Heterodimer with MTERFD2/MTERF4; this interaction may be required for NSUN4 recruitment to the
mitochondrial large ribosomal subunit
2 PDB 3D structures from and Proteopedia for NSUN4:
4FP9 (3D)        4FZV (3D)    
Secondary accessions: A8K6S6 B3KQ50 B4DHA4 Q5TDF7 Q96AN8 Q9HAJ8
Alternative splicing: 4 isoforms:  Q96CB9-1   Q96CB9-2   Q96CB9-3   Q96CB9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSUN4: NX_Q96CB9

Explore proteomics data for NSUN4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys37, Lys215, Lys240, Lys274
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NSUN4 (Q96CB9) (see all 6)
     CAAPGGK  VYSTCSL  AASLLPVLAL  QFGDLWPSIR 


    See NSUN4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243056.1  NP_001243057.1  NP_950245.2  

    ENSEMBL proteins: 
     ENSP00000419740   ENSP00000471937   ENSP00000438912   ENSP00000437758  

    NSUN4 Human Recombinant Protein Products:

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    Novus Biologicals NSUN4 Protein
    Novus Biologicals NSUN4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSUN4

     
    Search eBioscience for Proteins for NSUN4 

     
    antibodies-online proteins for NSUN4 (3 products) 

     
    antibodies-online peptides for NSUN4

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    NSUN4 Assay Products:

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    Cloud-Clone Corp. CLIAs for NSUN4
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    antibodies-online kits for NSUN4 (7 products) 


    (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

    2 InterPro protein domains:
     IPR023267 RCMT
     IPR001678 Fmu/NOL1/Nop2p

    Graphical View of Domain Structure for InterPro Entry Q96CB9

    ProtoNet protein and cluster: Q96CB9

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

    UniProtKB/Swiss-Prot: NSUN4_HUMAN, Q96CB9
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family


    Find genes that share domains with NSUN4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: NSUN4_HUMAN, Q96CB9
    Function: 5-methylcytosine rRNA methyltransferase involved in mitochondrial ribosome large subunit biogenesis

         Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12 EC 2.1.1.292

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008168methyltransferase activity IEA--
         
    Find genes that share ontologies with NSUN4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NSUN4:
     High actin ratio cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NSUN4

    miRNA
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    miRTarBase miRNAs that target NSUN4:
    hsa-mir-1 (MIRT005275), hsa-mir-3200-3p (MIRT052818)

    Block miRNA regulation of human, mouse, rat NSUN4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NSUN4 (see all 31):
    hsa-miR-137 hsa-miR-188-5p hsa-miR-520d-5p hsa-miR-605 hsa-miR-944 hsa-miR-221 hsa-miR-888* hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidNSUN4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NSUN4

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    GenScript: all cDNA clones in your preferred vector: NSUN4 (NM_199044)
    Sino Biological Human cDNA Clone for NSUN4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSUN4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN4


    (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
    NSUN4_HUMAN, Q96CB9: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    golgi apparatus1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005762mitochondrial large ribosomal subunit IDA--

    Find genes that share ontologies with NSUN4           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NSUN4
    Interactions:

        Search GeneGlobe Interaction Network for NSUN4

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

    Selected Interacting proteins for NSUN4 (Q96CB92, 3 ENSP000004197404) via UniProtKB, MINT, STRING, and/or I2D (see all 330)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEA11P433642, 3, ENSP000003473584MINT-67878 I2D: score=4 STRING: ENSP00000347358
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SQSTM1Q135013, ENSP000003744554I2D: score=3 STRING: ENSP00000374455
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=3 STRING: ENSP00000368797
    EWSR1Q018443, ENSP000003810314I2D: score=2 STRING: ENSP00000381031
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--

    Find genes that share ontologies with NSUN4           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 NSUN4

    1 HMDB Compound for NSUN4    About this table
    CompoundSynonyms CAS #PubMed Ids
    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 NSUN4 gene (3 alternative transcripts): 
    NM_001256127.1  NM_001256128.1  NM_199044.3  

    Unigene Cluster for NSUN4:

    NOP2/Sun domain family, member 4
    Hs.163424  [show with all ESTs]
    Unigene Representative Sequence: NR_045789
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474844 ENST00000307089(uc001cpr.1 uc010omc.1 uc009vyf.1 uc009vyg.1 uc001cpt.1 uc001cps.1)
    ENST00000486270 ENST00000469918 ENST00000472157 ENST00000471871 ENST00000498008
    ENST00000495427 ENST00000475281 ENST00000536062 ENST00000537428
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NSUN4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NSUN4 (see all 31):
    hsa-miR-137 hsa-miR-188-5p hsa-miR-520d-5p hsa-miR-605 hsa-miR-944 hsa-miR-221 hsa-miR-888* hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidNSUN4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NSUN4
    Predesigned siRNA for gene silencing in human, mouse, rat NSUN4
    Clone
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    OriGene clones in human, mouse for NSUN4 (see all 8)
    OriGene ORF clones in mouse, rat for NSUN4
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    GenScript: all cDNA clones in your preferred vector: NSUN4 (NM_199044)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSUN4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN4
    Primer
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    OriGene qPCR primer pairs and template standards for NSUN4
    OriGene qSTAR qPCR primer pairs in human, mouse for NSUN4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NSUN4
      QuantiTect SYBR Green Assays in human, mouse, rat NSUN4
      QuantiFast Probe-based Assays in human, mouse, rat NSUN4

    Additional mRNA sequence: 

    AK021577.1 AK057420.1 AK291741.1 AK292353.1 AK295003.1 BC014441.1 BX648592.1 NR_045789.1 
    NR_045790.1 NR_045791.1 

    17 DOTS entries:

    DT.97833384  DT.100641559  DT.100858894  DT.456343  DT.95357408  DT.121326401  DT.121326430  DT.100036872 
    DT.121326340  DT.121326524  DT.121326436  DT.95364266  DT.100711789  DT.121326458  DT.121326373  DT.121326516 
    DT.100644566 

    Selected AceView cDNA sequences (see all 336):

    CD722946 AW261990 U82535 CB266514 CB049339 AL042404 AW273419 BF914666 
    BU785964 AI920966 AA329007 CA502993 AI686717 AL050372 BM476102 BG770682 
    AI565253 CR624794 BC014441 AI858750 NM_001441 AI167794 CF529182 BQ014732 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NSUN4 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b ^ 8a ·
    SP1:                                -     -     -     -     -     -     -     -     -     -     -     -                                   -                     
    SP2:                                                                                                  -                                   -                     
    SP3:                                                                                                  -                       -     -     -                     
    SP4:                                -     -     -     -     -     -     -     -     -     -     -     -                                   -           -     -   
    SP5:                                -     -     -     -     -     -     -     -     -     -     -     -                                   -     -     -         

    ExUns: 8b ^ 9a · 9b ^ 10a · 10b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for NSUN4

    (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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    NSUN4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGCTTGT
    NSUN4 Expression
    About this image


    NSUN4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    NSUN4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSUN4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.163424
        Custom PCR Arrays for NSUN4
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NSUN4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN4

    (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 animals and fungi.

    Orthologs for NSUN4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsun41 , 5 NOL1/NOP2/Sun domain family, member 41, 5 87.11(n)1
    86.58(a)1
      4 (53.10 cM)5
    721811  NM_028142.41  NP_082418.11 
     1160328425 
    chicken
    (Gallus gallus)
    Aves NSUN41 NOP2/Sun domain family, member 4 64.46(n)
    65.29(a)
      424613  NM_001277592.1  NP_001264521.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSUN46
    NOP2/Sun domain family, member 4
    63(a)
    1 ↔ 1
    4(112170877-112185699)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.152582 Transcribed sequence with weak similarity to protein more 72.45(n)    BX719614.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.59912 Transcribed sequence with weak similarity to protein more 74.8(n)    BM037029.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47491 CG4749 50.04(n)
    39.62(a)
      33293  NM_134729.3  NP_608573.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y39G10AR.211 CELE_Y39G10AR.21 49.85(n)
    43.08(a)
      171790  NM_058557.3  NP_490958.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP26
    Probable RNA m(5)C methyltransferase, essential fo...
    12(a)
    1 → many
    XIV(510540-512396) YNL061W


    ENSEMBL Gene Tree for NSUN4 (if available)
    TreeFam Gene Tree for NSUN4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NSUN4 gene
    NOP22  NSUN62  NSUN32  ENSG000002717862  
    1 SIMAP similar gene for NSUN4 using alignment to 2 protein entries:     NSUN4_HUMAN (see all proteins):
    NSUN3

    Find genes that share paralogs with NSUN4           About GenesLikeMe



    (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)
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    Selected SNPs for NSUN4 (see all 759)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891020201,2
    --46803854(+) GGCAGA/GAGAAT 4 -- us2k10--------
    rs1132571531,2
    C--46803860(+) AGAATC/TGCTTG 4 -- us2k10--------
    rs1473596231,2
    --46803932(+) CAGAGA/CAAGAC 4 -- us2k10--------
    rs2012293441,2
    --46803950(+) AAAAG-/AAAAAA 4 -- us2k10--------
    rs728851381,2
    C,F--46804033(+) TCAACA/GTGATG 4 -- us2k11Minor allele frequency- G:0.00WA 118
    rs728851401,2
    C,F--46804064(+) GAAGTG/AAAACT 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs792173751,2
    C--46804088(+) GGCTCG/ACACCT 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs343172621,2
    C--46804097(+) TAATC-/AACAGC 4 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1134594901,2
    C,F--46804173(+) ACCCCG/ATCTCT 4 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1872892631,2
    --46804200(+) TTAGCC/TAGGCG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for NSUN4 (46805849 - 46830824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NSUN4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv22272CNV Loss19812545
    nsv159955CNV Loss16902084
    nsv829748CNV Loss17160897
    nsv470711CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSUN4
    DNA2.0 Custom Variant and Variant Library Synthesis for NSUN4

    (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: 615394    OMIM disorders: --


    Find genes that share disorders with NSUN4           About GenesLikeMe

    Genetic Association Database (GAD): NSUN4
    Human Genome Epidemiology (HuGE) Navigator: NSUN4 (1 document)

    Export disorders for NSUN4 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 NSUN4 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with NSUN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. (PubMed id 22949673)1, 2 Spahr H.... Hallberg B.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    2. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Structure of the essential MTERF4:NSUN4 protein complex reveals how an MTERF protein collaborates to facilitate rRNA modification. (PubMed id 23022348)2 Yakubovskaya E.... Garcia-Diaz M. (Structure 2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. (PubMed id 21531335)2 Camara Y.... Larsson N.G. (Cell Metab. 2011)
    8. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    9. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    10. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)

    (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: 387338 HGNC: 31802 AceView: FAAHandNSUN4 Ensembl:ENSG00000117481 euGenes: HUgn387338
    ECgene: NSUN4 H-InvDB: NSUN4

    (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 NSUN4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NSUN4 gene:
    Search GeneIP for patents involving NSUN4

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



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