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TSEN2 Gene

protein-coding   GIFtS: 55
GCID: GC03P012525

TSEN2 TRNA Splicing Endonuclease Subunit

(Previous names: tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae),...)
  See TSEN2-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4.4

Aliases
TSEN2 TRNA Splicing Endonuclease Subunit1 2     TRNA Splicing Endonuclease 2 Homolog (SEN2, S. Cerevisiae)1
SEN22 3 5     SEN2L2
TRNA-Intron Endonuclease Sen22 3     hsSen22
EC 3.1.27.93 8     TRNA-Splicing Endonuclease Subunit Sen22
PCH2B2 5     HsSen23
TRNA Splicing Endonuclease 2 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 284221   Entrez Gene: 807462   Ensembl: ENSG000001547437   OMIM: 6087535   UniProtKB: Q8NCE03   
ORGUL members:    fRNAdb10:FR094391 FR265587 FR175840 FR098992      
H-InvDB12:HIT000067034    
NCBI13:AF086155    
NONCODE14:n339250 n332900    
RNAdb15:RNZ22461 EVF10214 HIV2632 EVF10212    

Export aliases for TSEN2 gene to outside databases

Previous GC identifer: GC03P012504


(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 TSEN2 Gene:
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first
step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with
pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Feb 2009)

GeneCards Summary for TSEN2 Gene:
TSEN2 (TSEN2 tRNA splicing endonuclease subunit) is a protein-coding gene. Diseases associated with TSEN2 include tsen2-related pontocerebellar hypoplasia, and pontocerebellar hypoplasia type 2b. GO annotations related to this gene include tRNA-intron endonuclease activity and nucleic acid binding.

UniProtKB/Swiss-Prot: SEN2_HUMAN, Q8NCE0
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. Isoform 1 probably carries the active site for 5'-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. Isoform 2 is responsible for processing a
yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it
retains endonucleolytic activity

Gene Wiki entry for TSEN2 Gene

fRNAdb sequence ontologies for TSEN2 - the ORGUL cluster for this gene includes several descriptions:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for TSEN2

(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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TSEN2 gene promoter:
         Max   STAT2   STAT1beta   LyF-1   Evi-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTSEN2 promoter sequence
   Search Chromatin IP Primers for TSEN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSEN2


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

Entrez Gene cytogenetic band: 3p25.2   Ensembl cytogenetic band:  3p25.2   HGNC cytogenetic band: 3p25.2

TSEN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSEN2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P012525:  view genomic region     (about GC identifiers)

Start:
12,525,931 bp from pter      End:
12,581,122 bp from pter
Size:
55,192 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TSEN2

(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: SEN2_HUMAN, Q8NCE0 (See protein sequence)
Recommended Name: tRNA-splicing endonuclease subunit Sen2  
Size: 465 amino acids; 53247 Da
Subunit: tRNA splicing endonuclease is a heterotetramer composed of isoform 1 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. Isoform 2 belongs to a different complex that contains SEN54 but low level of
SEN15 and SEN34/LENG5
Secondary accessions: B7Z6K1 C9IZI7 G5E9Q3 Q8WTW7 Q9BPU7
Alternative splicing: 5 isoforms:  Q8NCE0-1   Q8NCE0-2   Q8NCE0-3   Q8NCE0-4   Q8NCE0-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSEN2: NX_Q8NCE0

Explore proteomics data for TSEN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for TSEN2 (Q8NCE0)
     LCYLIKPS  RWVSSRERS  KGYFGKGILSRSRP  TTYMAYHYFRSKGWVPKVGLKYGTDLLLYRKGPPFYHASY 


    See TSEN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001138864.1  NP_001138865.1  NP_001138866.1  NP_001138867.1  NP_079541.1  

    ENSEMBL proteins: 
     ENSP00000406238   ENSP00000392029   ENSP00000385976   ENSP00000284995   ENSP00000416510  
     ENSP00000408744   ENSP00000408528   ENSP00000323188   ENSP00000373307   ENSP00000407974  

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    Novus Biologicals TSEN2 Proteins
    Novus Biologicals TSEN2 Lysates
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    Cloud-Clone Corp. Proteins for TSEN2

     
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    antibodies-online proteins for TSEN2 (8 products) 

     
    antibodies-online peptides for TSEN2

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    (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:
     IPR006678 tRNA_intron_Endonuc_N
     IPR006677 tRNA_intron_Endonuc_cat-like
     IPR011856 tRNA_endonuc-like_dom
     IPR016589 tRNA_splic_SEN2

    Graphical View of Domain Structure for InterPro Entry Q8NCE0

    ProtoNet protein and cluster: Q8NCE0

    UniProtKB/Swiss-Prot: SEN2_HUMAN, Q8NCE0
    Similarity: Belongs to the tRNA-intron endonuclease family


    Find genes that share domains with TSEN2           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: SEN2_HUMAN, Q8NCE0
    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. Isoform 1 probably carries the active site for 5'-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. Isoform 2 is responsible for processing a
    yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it
    retains endonucleolytic activity
    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 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000213tRNA-intron endonuclease activity IEA--
    GO:0003676nucleic acid binding IEA--
         
    Find genes that share ontologies with TSEN2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TSEN2:
     Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TSEN2

    miRNA
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    miRTarBase miRNAs that target TSEN2:
    hsa-mir-378a-3p (MIRT043908)

    Block miRNA regulation of human, mouse, rat TSEN2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TSEN2:
    hsa-miR-1255a hsa-miR-1255b
    SwitchGear 3'UTR luciferase reporter plasmidTSEN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TSEN2

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    (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
    SEN2_HUMAN, Q8NCE0: Nucleus. Nucleus, nucleolus. Note=May be transiently localized in the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol3
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000214tRNA-intron endonuclease complex IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with TSEN2           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 TSEN2
    Interactions:

        Search GeneGlobe Interaction Network for TSEN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for TSEN2 (Q8NCE03 ENSP000002849954) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANBP10Q6VN203, ENSP000003165894I2D: score=1 STRING: ENSP00000316589
    TSEN15Q8WW013, ENSP000003552994I2D: score=1 STRING: ENSP00000355299
    TSEN34Q9BSV63, ENSP000003055244I2D: score=1 STRING: ENSP00000305524
    CLP1Q929893, ENSP000003047044I2D: score=1 STRING: ENSP00000304704
    TSEN54Q7Z6J93, ENSP000003274874I2D: score=1 STRING: ENSP00000327487
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006388tRNA splicing, via endonucleolytic cleavage and ligation IDA17495927
    GO:0006397mRNA processing IEA--

    Find genes that share ontologies with TSEN2           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 TSEN2 (SEN2)



    (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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    4 fRNAdb Secondary structures:


    REFSEQ mRNAs for TSEN2 gene (5 alternative transcripts): 
    NM_001145392.1  NM_001145393.1  NM_001145394.1  NM_001145395.1  NM_025265.3  

    Unigene Cluster for TSEN2:

    TRNA splicing endonuclease 2 homolog (S. cerevisiae)
    Hs.335550  [show with all ESTs]
    Unigene Representative Sequence: AK027821
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446004 ENST00000454502(uc003bwz.3) ENST00000402228(uc003bxb.3)
    ENST00000284995(uc003bxc.3) ENST00000473755(uc011auq.1 uc011aur.1)
    ENST00000415684 ENST00000490981 ENST00000455118 ENST00000412698 ENST00000475595
    ENST00000314571(uc003bxa.3) ENST00000383797 ENST00000444864
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate TSEN2:
    hsa-miR-1255a hsa-miR-1255b
    SwitchGear 3'UTR luciferase reporter plasmidTSEN2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TSEN2

    Additional mRNA sequence: 

    AK027821.1 AK074794.1 AK225875.1 AK291183.1 AK295508.1 AK300449.1 BC004178.2 BC004211.2 
    BC019582.1 BC021975.2 

    13 DOTS entries:

    DT.75152559  DT.108993  DT.97780236  DT.91758864  DT.97843187  DT.40113675  DT.75184254  DT.120856517 
    DT.120856562  DT.95176751  DT.205119  DT.95094835  DT.97821396 

    Selected AceView cDNA sequences (see all 148):

    AK074794 BQ690312 BX282415 BQ688855 BQ892775 BU196626 BU174665 BQ894877 
    BM970995 BQ689456 BQ877656 CD359061 BQ688756 CR612570 BU185854 BQ689961 
    BM796374 BU157366 BQ687535 BC004211 BC004178 BI253416 BQ877205 BX104919 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSEN2 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for TSEN2

    (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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    TSEN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TSEN2 Expression
    About this image

    TSEN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TSEN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.335550

    UniProtKB/Swiss-Prot: SEN2_HUMAN, Q8NCE0
    Tissue specificity: Isoform 1 and isoform 2 are widely expressed at very low level

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSEN2

    (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 TSEN2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tsen21 , 5 tRNA splicing endonuclease 2 homolog (S. cerevisiae)1, 5 74.83(n)1
    71.08(a)1
      6 (53.58 cM)5
    3818021  NM_199033.11  NP_950198.11 
     1155446645 
    chicken
    (Gallus gallus)
    Aves TSEN21 tRNA splicing endonuclease 2 homolog (S. cerevisiae) 63.88(n)
    55.73(a)
      415965  NM_001030594.2  NP_001025765.1 
    lizard
    (Anolis carolinensis)
    Reptilia TSEN26
    TSEN2 tRNA splicing endonuclease subunit
    56(a)
    1 ↔ 1
    2(158915468-158923997)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.348942 Xenopus laevis transcribed sequence with weak similarity more 75.84(n)    BJ643700.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tsen21 tRNA splicing endonuclease 2 homolog (S. cerevisiae) 52.77(n)
    47.31(a)
      767713  NM_001076651.1  NP_001070119.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG318126
    --
    28(a)
    1 ↔ 1
    2L(16729778-16731199)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEN2(YLR105C)4 Subunit of the tRNA splicing endonuclease, which is more   --   12(348180-347047) 850795  NP_013206.1 


    ENSEMBL Gene Tree for TSEN2 (if available)
    TreeFam Gene Tree for TSEN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TSEN2 gene
    Selected SIMAP similar genes for TSEN2 using alignment to 4 protein entries:     SEN2_HUMAN (see all proteins) (see all similar genes):
    MEFV    UBIAD1    CTSS    ERBB2    ZNF564    C4orf22
    EDRF1    HKR1    NEK4    FAM3A    ZNF212    ZNF880
    FAM175A    FAM210A    TNFRSF17    ZNF585B    ZNF737    APOD

    Find genes that share paralogs with TSEN2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TSEN2
    PGOHUM00000246144


    (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 TSEN2 (see all 1297)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139941491,2,,4
    CPontocerebellar hypoplasia 2B (PCH2B)4 pathogenic112493271(+) GGTCTA/GTGCTC 10 Y C mis10--------
    rs2005825471,2
    C--12459207(-) AAAAAA/GGAAAA 5 -- us2k10--------
    rs1510270761,2
    C--12459229(+) TTATG-/TTTTTT 5 -- us2k10--------
    rs1927021701,2
    --12459494(+) CGGATA/TTTACA 5 -- us2k10--------
    rs1149701411,2
    --12459512(+) TTCAGC/TTGTCT 5 -- us2k10--------
    rs1849730071,2
    --12459521(+) CTCTCC/TCCTGC 5 -- us2k10--------
    rs1147838601,2
    C,F--12459758(+) TGGCTC/TAAGCC 5 -- us2k11Minor allele frequency- T:0.04WA 118
    rs7059621,2
    C,F,A,H--12459760(+) GCTCAC/AGCCTG 5 -- us2k111Minor allele frequency- A:0.45NA WA CSA EA 258
    rs7059631,2
    C,F,A,H--12459790(-) CCGCCG/TCGGCC 5 -- us2k110Minor allele frequency- T:0.37NA WA CSA 19
    rs1897505581,2
    --12459842(+) ACGTGA/GTGAAA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for TSEN2 (12525931 - 12581122 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TSEN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv850e199CNV Deletion23128226
    dgv810e201CNV Deletion23290073
    nsv3703CNV Insertion18451855
    nsv876541CNV Gain21882294
    esv2751977CNV Gain17911159
    nsv7351OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): TSEN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TSEN2
    DNA2.0 Custom Variant and Variant Library Synthesis for TSEN2

    (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: 608753OMIM information: 164760 117360 600644 252350 601869 606658 607135 608448 608982 609299 601487    
    OMIM disorders: 612389  
    UniProtKB/Swiss-Prot: SEN2_HUMAN, Q8NCE0
  • Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389]: 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 TSEN2:    
    About MalaCards
    tsen2-related pontocerebellar hypoplasia    pontocerebellar hypoplasia type 2b    pontocerebellar hypoplasia type 2a    pontocerebellar hypoplasia type 2
    tsen54-related pontocerebellar hypoplasia    pontocerebellar hypoplasia

    1 disease from the University of Copenhagen DISEASES database for TSEN2:
    Microcephaly

    Find genes that share disorders with TSEN2           About GenesLikeMe

    GeneTests: TSEN2
    GeneReviews: TSEN2
    Genetic Association Database (GAD): TSEN2

    Export disorders for TSEN2 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 TSEN2 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with TSEN2)
        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. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (Carcinogenesis 2012)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    8. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PubMed id 18711368)2 Budde B.S.... Baas F. (Nat. Genet. 2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    10. The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs. (PubMed id 17495927)1 Weitzer S. and Martinez J. (Nature 2007)

    (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: 80746 HGNC: 28422 AceView: SEN2L Ensembl:ENSG00000154743 euGenes: HUgn80746
    ECgene: TSEN2 H-InvDB: TSEN2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TSEN2 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 TSEN2 gene:
    Search GeneIP for patents involving TSEN2

    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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