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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TSEN2 Gene

protein-coding   GIFtS: 53
GCID: GC03P012525

tRNA splicing endonuclease 2 homolog (S. cerevisiae)

(Previous names: tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)...)
 Explore 6 diseases affiliated with
TSEN2 via our new
 Human Malady Compendium 
Biological research products
for TSEN2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
TRNA Splicing Endonuclease 2 Homolog (S. Cerevisiae)1 2     MGC27761
SEN21 2 3 5     TRNA Splicing Endonuclease 2 Homolog (SEN2, S. Cerevisiae)1
SEN2L1 2     HsSen23
TRNA-Intron Endonuclease Sen22 3     TRNA-Splicing Endonuclease Subunit Sen22
EC 3.1.27.93 8     HsSen23
PCH2B2 5     

External Ids:    HGNC: 284221   Entrez Gene: 807462   Ensembl: ENSG000001547437   OMIM: 6087535   UniProtKB: Q8NCE03   
ORGUL members:    fRNAdb10:FR175840      
H-InvDB:HIT000067034    
NCBI:AF086155    
NONCODE:n332900    
RNAdb:HIV2632    

Export aliases for TSEN2 gene to outside databases

Previous GC identifer: GC03P012504


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TSEN2:
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)

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

fRNAdb sequence ontology for TSEN2:
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TSEN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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)

  • FR0175840
  • n332900
12548552 12564842 12581132 chr3

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus. Nucleus, nucleolus. Note=May be transiently localized in the nucleolus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCE0

  • 4 DME Specific Peptides for TSEN2 (Q8NCE0)
     LCYLIKPS  RWVSSRERS  KGYFGKGILSRSRP  TTYMAYHYFRSKGWVPKVGLKYGTDLLLYRKGPPFYHASY 

    TSEN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000440958  
     ENSP00000407974  

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    Uscn Proteins for TSEN2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--


    TSEN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TSEN2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TSEN2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000213tRNA-intron endonuclease activity IEA--
    GO:0003676nucleic acid binding IEA--


    TSEN2 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TSEN2

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

    5 Interacting proteins for TSEN2 (Q8NCE03 ENSP000002849954) via UniProtKB, MINT, STRING, and/or I2D
    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 (GO ID links to tree view):    About this table

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


    TSEN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TSEN2
    Search CenterWatch for drugs/clinical trials and news about TSEN2 / SEN2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    1 fRNAdb Secondary structure:


    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
    14 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 ENST00000537959 ENST00000444864


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    Additional cDNA 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 

    24/148 AceView cDNA sequences (see all 148):

    BI253416 BU196626 BM970995 BX282415 BQ686435 BM796374 BQ689490 AI702609 
    BQ688193 BQ689961 BQ894877 BQ892775 BQ688855 AL537929 BC004178 BQ877205 
    BX332182 CR611882 BC021975 BC004211 BI489700 BU185854 BX104919 BX354978 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TSEN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TSEN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TSEN2

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TSEN2 gene from 8/22 species (see all 22)    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) 63.82(n)
    55.26(a)
      415965  NM_001030594.1  NP_001025765.1 
    lizard
    (Anolis carolinensis)
    Reptilia TSEN26
    --
    55(a)
    1 ↔ 1
    2(158916240-158923963)
    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) 52.48(n)
    46.51(a)
      767713  NM_001076651.1  NP_001070119.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG318126
    --
    27(a)
    1 ↔ 1
    2L(16729778-16731199)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SEN16
    SEN26
    (see all 3)
    tRNA-splicing endonuclease subunit Sen2-2
    (see all 3)
    25(a)
    25(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    3(16732593-16733854)
    5(24250091-24251613)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    tRNA-splicing endonuclease subunit Sen2, putative,...
    tRNA-splicing endonuclease subunit Sen2, putative,...
    (see all 3)
    20(a)
    20(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    6(19782166-19784261)
    11(22710475-22712727)


    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)
    About This Section
    Paralogs for TSEN2 gene
    18/66 SIMAP similar genes for TSEN2 using alignment to 5 protein entries:     SEN2_HUMAN (see all proteins) (see all similar genes):
    MEFV    ERBB2    ZNF564    C4orf22    C10orf137    HKR1
    NEK4    ZNF410    FAM3A    ZNF212    ZNF880    FAM175A
    FAM210A    TNFRSF17    ZNF585B    APOD    LYRM4    NSRP1

    TSEN2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TSEN2
    PGOHUM00000246144


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1062 NCBI SNPs in TSEN2 are shown (see all 1062    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139941491,2
    C,pathogenic120044135(+) GGTCTA/GTGCTC 10 Y C mis10--------
    rs2005825471,2
    C--12457122(-) AAAAAA/GGAAAA 5 -- us2k10--------
    rs1135423871,2
    C,--12458009(+) GAGCAC/TAGAGG 5 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1139746421,2
    C,F,--12458169(+) AACATT/GGGCAG 5 -- us2k13Minor allele frequency- G:0.05CSA WA 122
    rs76145651,2
    C,F,H,--12458900(+) AGTGGC/TAGAGC 5 -- us2k111Minor allele frequency- T:0.08NS EA NA WA 1312
    rs38066621,2
    C,F,H,--12459069(-) TTGGCC/TCCACG 5 -- ut51 us2k120Minor allele frequency- T:0.08NS EA NA CSA WA 2220
    rs286574731,2
    C,F,--12459086(+) TAAGGG/ACCCTG 5 -- int1 ut51 ese31Minor allele frequency- A:0.03WA 118
    rs7091611,2
    C,F,A,--12459251(-) GCACTC/AGGAAG 5 -- ut51 int1 ese311Minor allele frequency- A:0.47MN NA WA CSA EA 556
    rs412933811,2
    C,F,--12459261(+) CGCCCG/TGTCAC 5 -- ut51 int11Minor allele frequency- T:0.02EA 120
    rs760121181,2
    --12459287(+) TTCCTC/TGTGCG 5 -- ut51 int11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for TSEN2 (12525931 - 12581122 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TSEN2
         1 CNV: 8414
         1 Inversion: 37239
    Human Gene Mutation Database (HGMD): TSEN2

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    (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.)
    About This Section

    TSEN2 for disorders           About GeneDecksing

    OMIM gene information: 608753 117360 600644 252350 601869 606658 607135 608448 608982 609299    
    OMIM disorders: 612389  
    UniProtKB/Swiss-Prot: SEN2_HUMAN, Q8NCE0
  • Defects in TSEN2 are the cause of pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]. Pontocerebellar
  • hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem.
    PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea,
    epilepsy, and normal spinal cord findings

    6 diseases for TSEN2:    About MalaCards
    pontocerebellar hypoplasia type 2    pontocerebellar hypoplasia    pontocerebellar hypoplasia type 2b    pontocerebellar hypoplasia type 2 and type 4
    chorea    microcephaly

    1 disease from the University of Copenhagen DISEASES database for TSEN2:
    Microcephaly
    GeneTests: TSEN2
    Pontocerebellar Hypoplasia Type 2 and Type 4


    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)
    About This Section

    PubMed articles for TSEN2 gene, integrated from 9 sources (see all 24):
    (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. (2004)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1 Tao S....Sun J. (2012)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    7. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PubMed id 18711368)2 Budde B.S.... Baas F. (2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. 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. (2007)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 80746 HGNC: 28422 AceView: SEN2L Ensembl:ENSG00000154743 euGenes: HUgn80746
    ECgene: TSEN2 H-InvDB: TSEN2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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