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TSEN34 Gene

protein-coding   GIFtS: 53
GCID: GC19P054887

TSEN34 TRNA Splicing Endonuclease Subunit

(Previous names: leukocyte receptor cluster (LRC) member 5, tRNA splicing...)
(Previous symbol: LENG5)
  See TSEN34-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
TSEN34 TRNA Splicing Endonuclease Subunit1 2     TRNA Splicing Endonuclease 34 Homolog (SEN34, S. Cerevisiae)1
LENG51 2 3 5     CTD-3093M3.12
SEN342 3 5     SEN34L2
Leukocyte Receptor Cluster (LRC) Member 51 2     hsSen342
Leukocyte Receptor Cluster Member 52 3     TRNA-Splicing Endonuclease Subunit Sen342
TRNA-Intron Endonuclease Sen342 3     EC 3.1.27.93
PCH2C2 5     HsSen343
TRNA Splicing Endonuclease 34 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 155061   Entrez Gene: 790422   Ensembl: ENSG000001708927   OMIM: 6087545   UniProtKB: Q9BSV63   

Export aliases for TSEN34 gene to outside databases

Previous GC identifers: GC19P059387 GC19P054794 GC19P054801 GC19P051009 GC19P054812 GC19P054819 GC19P054826 GC19P054834 GC19P054849 GC19P054863


(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 TSEN34 Gene:
This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns
from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor.
A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple
alternatively spliced variants, encoding the same protein, have been identified.(provided by RefSeq, Oct 2009)

GeneCards Summary for TSEN34 Gene:
TSEN34 (TSEN34 tRNA splicing endonuclease subunit) is a protein-coding gene. Diseases associated with TSEN34 include pontocerebellar hypoplasia type 2, and pontocerebellar hypoplasia type 2c. GO annotations related to this gene include tRNA-intron endonuclease activity and nucleic acid binding.

UniProtKB/Swiss-Prot: SEN34_HUMAN, Q9BSV6
Function: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex
responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and
3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing
2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is
invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant
structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA
splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing
factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the
endonuclease subunits function in multiple RNA-processing events

Gene Wiki entry for TSEN34 Gene


(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_000019.9  NT_011109.17  NT_187693.1  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TSEN34 gene promoter:
         Egr-3   Pax-5   NRSF form 1   XBP-1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TSEN34 promoter sequence
   Search Chromatin IP Primers for TSEN34

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSEN34


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

TSEN34 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSEN34 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P054887:  view genomic region     (about GC identifiers)

Start:
54,693,789 bp from pter      End:
54,698,394 bp from pter
Size:
4,606 bases      Orientation:
plus strand

Selected alternative locations (see all 8):
Chr19+,NW_003571057 165,232-169,507      Chr19+,NW_003571058 165,232-169,507      Chr19+,NW_003571055 165,232-169,507     
Chr19+,NW_003571056 165,232-169,507      Chr19+,NW_003571059 165,232-169,507      Chr19+,NW_003571060 165,232-169,499     

(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: SEN34_HUMAN, Q9BSV6 (See protein sequence)
Recommended Name: tRNA-splicing endonuclease subunit Sen34  
Size: 310 amino acids; 33652 Da
Subunit: tRNA splicing endonuclease is a heterotetramer composed of SEN2, SEN15, SEN34/LENG5 and SEN54. tRNA
splicing endonuclease complex also contains proteins of the pre-mRNA 3'-end processing machinery such as CLP1,
CPSF1, CPSF4 and CSTF2
Miscellaneous: Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4
Sequence caution: Sequence=BAB15284.1; Type=Erroneous termination; Positions=311; Note=Translated as stop;
Secondary accessions: A6NNB1 B0V3J1 Q9BVT1 Q9H6H5

Explore the universe of human proteins at neXtProt for TSEN34: NX_Q9BSV6

Explore proteomics data for TSEN34 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TSEN34 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001070914.1  NP_001269261.1  NP_001269262.1  NP_076980.2  

    ENSEMBL proteins: 
     ENSP00000400743   ENSP00000408689   ENSP00000305524   ENSP00000379667   ENSP00000379671  
     ENSP00000397402  

    TSEN34 Human Recombinant Protein Products:

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    Novus Biologicals TSEN34 Proteins
    Novus Biologicals TSEN34 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TSEN34

     
    Search eBioscience for Proteins for TSEN34 

     
    antibodies-online proteins for TSEN34 (5 products) 

     
    Search antibodies-online for peptides for TSEN34

    TSEN34 Antibody Products:

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    antibodies-online antibodies for TSEN34 (3 products) 

    TSEN34 Assay Products:

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    Cloud-Clone Corp. ELISAs for TSEN34
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    antibodies-online kits for TSEN34 (4 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:
    TSEN: tRNA splicing endonuclease subunits

    4 InterPro protein domains:
     IPR006676 tRNA_splic
     IPR006677 tRNA_intron_Endonuc_cat-like
     IPR011856 tRNA_endonuc-like_dom
     IPR016690 tRNA_splic_SEN34

    Graphical View of Domain Structure for InterPro Entry Q9BSV6

    ProtoNet protein and cluster: Q9BSV6

    UniProtKB/Swiss-Prot: SEN34_HUMAN, Q9BSV6
    Similarity: Belongs to the tRNA-intron endonuclease family


    Find genes that share domains with TSEN34           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: SEN34_HUMAN, Q9BSV6
    Function: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex
    responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and
    3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing
    2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is
    invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant
    structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA
    splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing
    factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the
    endonuclease subunits function in multiple RNA-processing events
    Catalytic activity: Endonucleolytic cleavage of pre-tRNA, producing 5'-hydroxy and 2',3'-cyclic phosphate termini,
    and specifically removing the intron

         Enzyme Number (IUBMB): EC 3.1.27.91

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000213tRNA-intron endonuclease activity IEA--
    GO:0003676nucleic acid binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TSEN34           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TSEN34:
     Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TSEN34

    miRNA
    Products:
        
    miRTarBase miRNAs that target TSEN34:
    hsa-mir-193b-3p (MIRT041464), hsa-mir-197-3p (MIRT048138), hsa-mir-26b-5p (MIRT029248), hsa-mir-7-5p (MIRT025748)

    Block miRNA regulation of human, mouse, rat TSEN34 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TSEN34 (see all 19):
    hsa-miR-142-3p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-302e hsa-miR-570 hsa-miR-520a-3p hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidTSEN34 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TSEN34
    Predesigned siRNA for gene silencing in human, mouse, rat TSEN34

    Gene Editing
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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): TSEN34 (NM_001077446)
    Sino Biological Human cDNA Clone for TSEN34
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSEN34
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSEN34

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSEN34


    (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
    SEN34_HUMAN, Q9BSV6: Nucleus. Nucleus, nucleolus. Note=May be transiently localized in the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000214tRNA-intron endonuclease complex IEA--
    GO:0005730nucleolus IEA--

    Find genes that share ontologies with TSEN34           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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    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TSEN34
        Transcription of tRNA



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TSEN34
    Interactions:

        Search GeneGlobe Interaction Network for TSEN34

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for TSEN34 (Q9BSV63 ENSP000003055244) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSEN15Q8WW013, ENSP000003552994I2D: score=2 STRING: ENSP00000355299
    CLP1Q929893, ENSP000003047044I2D: score=1 STRING: ENSP00000304704
    TSEN2Q8NCE03, ENSP000002849954I2D: score=1 STRING: ENSP00000284995
    TSEN54Q7Z6J93, ENSP000003274874I2D: score=1 STRING: ENSP00000327487
    ACDQ96AP03I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000379tRNA-type intron splice site recognition and cleavage IEA--
    GO:0006388tRNA splicing, via endonucleolytic cleavage and ligation ----
    GO:0006397mRNA processing IEA--

    Find genes that share ontologies with TSEN34           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 TSEN34 (SEN34)



    (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 TSEN34 gene (4 alternative transcripts): 
    NM_001077446.3  NM_001282332.1  NM_001282333.1  NM_024075.4  

    Unigene Cluster for TSEN34:

    TRNA splicing endonuclease 34 homolog (S. cerevisiae)
    Hs.15580  [show with all ESTs]
    Unigene Representative Sequence: NM_024075
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455798 ENST00000456872 ENST00000302937(uc002qdu.3) ENST00000496583
    ENST00000396383(uc002qdv.3) ENST00000396388(uc002qdw.3) ENST00000429671(uc010yeo.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat TSEN34 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TSEN34 (see all 19):
    hsa-miR-142-3p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-302e hsa-miR-570 hsa-miR-520a-3p hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidTSEN34 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TSEN34
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSEN34
    Primer
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    OriGene qPCR primer pairs and template standards for TSEN34
    OriGene qSTAR qPCR primer pairs in human, mouse for TSEN34
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TSEN34
      QuantiTect SYBR Green Assays in human, mouse, rat TSEN34
      QuantiFast Probe-based Assays in human, mouse, rat TSEN34

    Additional mRNA sequence: 

    AF211970.1 AK025929.1 AK225385.1 AK226013.1 AK300054.1 BC000944.2 BC004530.2 BC020805.1 

    14 DOTS entries:

    DT.80101582  DT.99980016  DT.95148719  DT.92440493  DT.100820210  DT.100820199  DT.100820209  DT.95148718 
    DT.99946438  DT.100738996  DT.102830132  DT.40268261  DT.95148710  DT.99991261 

    Selected AceView cDNA sequences (see all 303):

    AA426544 AI880179 W81316 BQ931834 BG912586 BE787702 BP368094 BQ433171 
    AA988242 AA159313 BG684154 CR607949 BU508148 AI280860 BG762576 AA613567 
    CR598135 BE777993 AA431799 BQ684936 BC020805 AW304168 CB996046 AA877114 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSEN34 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                          -     -                                                                     
    SP2:                                -                                                                     
    SP3:        -     -     -     -     -                                                                     
    SP4:                    -     -     -                                                                     
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for TSEN34

    (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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    TSEN34 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGGGTGGA
    TSEN34 Expression
    About this image


    TSEN34 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    TSEN34 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TSEN34 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.15580
        Custom PCR Arrays for TSEN34
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TSEN34
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSEN34

    (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 TSEN34 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tsen341 , 5 tRNA splicing endonuclease 34 homolog (S. cerevisiae)1, 5 84.52(n)1
    89.35(a)1
      7 (2.13 cM)5
    660781  NM_024168.21  NP_077130.11 
     36933755 
    lizard
    (Anolis carolinensis)
    Reptilia TSEN346
    TSEN34 tRNA splicing endonuclease subunit
    46(a)
    1 ↔ 1
    GL343279.1(1639877-1650957)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tsen341 TSEN34 tRNA splicing endonuclease subunit 53.1(n)
    46.67(a)
      100380139  XM_002934992.2  XP_002935038.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tsen341 tRNA splicing endonuclease 34 homolog (S. cerevisiae) 53.48(n)
    45.9(a)
      565995  XM_005159232.1  XP_005159289.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG332606
    --
    23(a)
    1 ↔ 1
    3L(14753620-14754944)
    worm
    (Caenorhabditis elegans)
    Secernentea K08D10.126
    Protein K08D10.12 (K08D10.12) mRNA, complete cds
    25(a)
    1 ↔ 1
    IV(4178463-4179534) WBGene00019535
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEN34(YAR008W)4
    SEN341
    Subunit of the tRNA splicing endonuclease, which is more4
    SEN341
    40.15(n)1
    30.5(a)1
      1(158966-159793)4
    8512671, 4  NP_009405.11, 4 


    ENSEMBL Gene Tree for TSEN34 (if available)
    TreeFam Gene Tree for TSEN34 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Selected SNPs for TSEN34 (see all 244)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548114
    Pontocerebellar hypoplasia 2C (PCH2C)4--see VAR_0548112 R W mis40--------
    rs1139941501,2
    Cpathogenic154854565(+) AGGCGC/TGGCTC 4 R W mis10--------
    rs2010606091,2
    Cuntested154855377(+) AAGTTC/TGGAGG 4 F syn11Minor allele frequency- T:0.00EU 1323
    rs742691111,2
    C--51012114(+) TTTTC-/T/TT  
            
    TTTTT
    2 -- int10--------
    rs58285741,2
    C--51014011(+) GTGGTGGA/-GAATT 4 -- ut311Minor allele frequency- -:0.50CSA 2
    rs1461221511,2
    C--54698196(+) GTGGT-/GGAGAATT 2 -- cds10--------
    rs38528841,2
    F--54698197(-) ATTCTT/CCACCA 2 -- ut311Minor allele frequency- C:0.48MN 184
    rs664895041,2
    C--54698197(-) AAATT-/C/    
       CTC
    /T
    CACCA
    6 -- ut312NA 4
    rs2013668001,2
    C--54851328(+) CAGGGT/AGAGCC 1 -- us2k11Minor allele frequency- A:0.00EU 847
    rs2005055261,2
    C--54851332(+) GTGAGC/TCCCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TSEN34 (54693789 - 54698394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TSEN34:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718812CNV Deletion23290073
    nsv510774CNV Loss20534489
    nsv912398CNV Loss21882294
    nsv2546CNV Loss18451855
    dgv4002n71CNV Loss21882294
    dgv4001n71CNV Loss21882294
    nsv9751CNV Gain18304495
    nsv428371CNV Gain+Loss18775914
    dgv1118e1CNV Complex17122850
    dgv1119e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TSEN34
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TSEN34
    DNA2.0 Custom Variant and Variant Library Synthesis for TSEN34

    (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: 608754   
    OMIM disorders: 612390  
    UniProtKB/Swiss-Prot: SEN34_HUMAN, Q9BSV6
  • Pontocerebellar hypoplasia 2C (PCH2C) [MIM:612390]: A disorder characterized by an abnormally small
    cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe
    chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for TSEN34:    
    About MalaCards
    pontocerebellar hypoplasia type 2    pontocerebellar hypoplasia type 2c    tsen34-related pontocerebellar hypoplasia    tsen54-related pontocerebellar hypoplasia
    pontocerebellar hypoplasia    pontocerebellar hypoplasia type 2a

    1 disease from the University of Copenhagen DISEASES database for TSEN34:
    Microcephaly

    Find genes that share disorders with TSEN34           About GenesLikeMe

    GeneTests: TSEN34
    GeneReviews: TSEN34

    Export disorders for TSEN34 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 TSEN34 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with TSEN34)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. (PubMed id 15109492)1, 2, 3 Paushkin S.V.... Trotta C.R. (Cell 2004)
    2. Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. (PubMed id 10941842)1, 2, 3 Wende H.... Ziegler A. (Immunogenetics 2000)
    3. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PubMed id 18711368)1, 2 Budde B.S.... Baas F. (Nat. Genet. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. (PubMed id 23562994)1 Bierhals T....Kutsche K. (Eur J Med Genet 2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 79042 HGNC: 15506 AceView: LENG5 Ensembl:ENSG00000170892 euGenes: HUgn79042
    ECgene: TSEN34 H-InvDB: TSEN34

    (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 TSEN34 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 TSEN34 gene:
    Search GeneIP for patents involving TSEN34

    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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
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