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THOC5 Gene

protein-coding   GIFtS: 57
GCID: GC22M029901

THO Complex 5

(Previous name: chromosome 22 open reading frame 19)
(Previous symbol: C22orf19)
  See THOC5-related disease
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
THO Complex 51 2     Chromosome 22 Open Reading Frame 191
C22orf191 2 3     Fmip2
Functional Spliceosome-Associated Protein 791 2 3     PK1.32
Placental Protein 39.22 3     Fms-Interacting Protein2
PP39.22 3     THO Complex Subunit 5 Homolog2
fSAP792 3     KIAA09833
hTREX902 3     FMIP5
NF2/Meningioma Region Protein PK1.32 3     

External Ids:    HGNC: 190741   Entrez Gene: 85632   Ensembl: ENSG000001002967   OMIM: 6127335   UniProtKB: Q137693   

Export aliases for THOC5 gene to outside databases

Previous GC identifers: GC00U902870 GC22M028231 GC22M012867


(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 THOC5 Gene:
THOC5 (THO complex 5) is a protein-coding gene. Diseases associated with THOC5 include meningioma. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: THOC5_HUMAN, Q13769
Function: Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA
transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with
unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA
upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region
near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX
complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and
infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear
export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1
localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in
alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probaly mediates
association of the TREX and CFIm complexes
Function: Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels
of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and
adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic
development

Gene Wiki entry for THOC5 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_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the THOC5 gene promoter:
         p53   ZID   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHOC5 promoter sequence
   Search Chromatin IP Primers for THOC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THOC5


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12

THOC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THOC5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M029901:  view genomic region     (about GC identifiers)

Start:
29,901,868 bp from pter      End:
29,951,205 bp from pter
Size:
49,338 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: THOC5_HUMAN, Q13769 (See protein sequence)
Recommended Name: THO complex subunit 5 homolog  
Size: 683 amino acids; 78508 Da
Subunit: Interacts with phosphorylated CSF1R. Component of the THO complex, which is composed of THOC1, THOC2,
THOC3, THOC5, THOC6 and THOC7; together with at least ALYREF/THOC4, DDX39B, SARNP/CIP29 and CHTOP, THO forms the
transcription/export (TREX) complex which seems to have a dynamic structure involving ATP-dependent remodeling.
Interacts with THOC1, ALYREF/THOC4, and THOC7. Interacts (via N-terminus) with the NTF2 domain of NXF1. Forms a
complex with CEBPB. Interacts with CPSF6; indicative for an association with the cleavage factor Im (CFIm)
complex
Sequence caution: Sequence=BAA76827.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O60839 Q9UPZ5

Explore the universe of human proteins at neXtProt for THOC5: NX_Q13769

Explore proteomics data for THOC5 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine upon binding to activated CSF1R; which causes a dissociation of the two proteins.
    Phosphorylation on Ser-5 and/or Ser-6 is required for nuclear export. Phosphorylated on Thr-328 in
    insulin-stimulated adipocytes (By similarity). Phosphorylation at Tyr-225 modulates mRNA binding1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See THOC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001002877.1  NP_001002878.1  NP_001002879.1  NP_003669.4  

    ENSEMBL proteins: 
     ENSP00000420306   ENSP00000416500   ENSP00000444493   ENSP00000380971   ENSP00000393247  
     ENSP00000413505   ENSP00000415425   ENSP00000416804   ENSP00000393420   ENSP00000388039  
     ENSP00000380970   ENSP00000380969  

    THOC5 Human Recombinant Protein Products:

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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:
    THOC: THO complex subunits

    1 InterPro protein domain:
     IPR019163 THO_Thoc5

    Graphical View of Domain Structure for InterPro Entry Q13769

    ProtoNet protein and cluster: Q13769

    UniProtKB/Swiss-Prot: THOC5_HUMAN, Q13769
    Similarity: Belongs to the THOC5 family


    Find genes that share domains with THOC5           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: THOC5_HUMAN, Q13769
    Function: Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA
    transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with
    unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA
    upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region
    near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX
    complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and
    infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear
    export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1
    localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in
    alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probaly mediates
    association of the TREX and CFIm complexes
    Function: Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels
    of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and
    adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic
    development

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI19059247
         
    Find genes that share ontologies with THOC5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for THOC5:
     Lamellipodia cells 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Thoc5):
     hematopoietic system  immune system  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with THOC5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Thoc5tm1.1Tate for THOC5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for THOC5
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for THOC5

    miRNA
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    miRTarBase miRNAs that target THOC5:
    hsa-let-7b-5p (MIRT052279), hsa-let-7f-5p (MIRT051410), hsa-mir-98-5p (MIRT027661), hsa-mir-615-3p (MIRT039858), hsa-mir-30a-3p (MIRT049915), hsa-mir-186-5p (MIRT044988)

    Block miRNA regulation of human, mouse, rat THOC5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate THOC5:
    hsa-miR-511 hsa-miR-9 hsa-miR-125a-3p hsa-miR-1224-3p
    SwitchGear 3'UTR luciferase reporter plasmidTHOC5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat THOC5

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): THOC5 (NM_001002878)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THOC5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THOC5


    (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
    THOC5_HUMAN, Q13769: Nucleus. Nucleus speckle (Probable). Cytoplasm (By similarity). Note=Shuttles between
    nucleus and cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000346transcription export complex IDA15833825
    GO:0000347THO complex IDA15998806
    GO:0000445THO complex part of transcription export complex IDA15998806
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with THOC5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for THOC5 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA transport
    RNA transport


    Find genes that share SuperPaths with THOC5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for THOC5):
        RNA transport

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for THOC5
    Interactions:

        Search GeneGlobe Interaction Network for THOC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for THOC5 (Q137691, 2, 3 ENSP000003809694) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAP1Q035181, 2, 3, ENSP000003462064EBI-5280316,EBI-747259 MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D: score=1 STRING: ENSP00000346206
    ENSG00000206297Q035181, 2, 3EBI-5280316,EBI-747259 MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D: score=1 
    ENSG00000224212Q035181, 2, 3EBI-5280316,EBI-747259 MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D: score=1 
    ENSG00000226173Q035181, 2, 3EBI-5280316,EBI-747259 MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D: score=1 
    ENSG00000227816Q035181, 2, 3EBI-5280316,EBI-747259 MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0006406mRNA export from nucleus IDA17190602
    GO:0008380RNA splicing IEA--
    GO:0030224monocyte differentiation IDA19015024
    GO:0032786positive regulation of DNA-templated transcription, elongation IMP--

    Find genes that share ontologies with THOC5           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 THOC5



    (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 THOC5 gene (4 alternative transcripts): 
    NM_001002877.1  NM_001002878.1  NM_001002879.1  NM_003678.4  

    Unigene Cluster for THOC5:

    THO complex 5
    Hs.75361  [show with all ESTs]
    Unigene Representative Sequence: AB023200
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490103(uc003afq.3 uc003afu.3) ENST00000442555(uc003afv.1)
    ENST00000472164 ENST00000358079 ENST00000397873 ENST00000484924 ENST00000443089
    ENST00000492707 ENST00000488052 ENST00000475187(uc003afw.1) ENST00000440771
    ENST00000455450 ENST00000428374 ENST00000414902 ENST00000418021 ENST00000397872(uc003afr.3 uc003aft.3)
    ENST00000397871(uc003afs.3)
    miRNA
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    hsa-miR-511 hsa-miR-9 hsa-miR-125a-3p hsa-miR-1224-3p
    SwitchGear 3'UTR luciferase reporter plasmidTHOC5 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat THOC5

    Additional mRNA sequence: 

    AB023200.1 AJ006069.1 AK025385.1 AK098709.1 AK122673.1 AK225169.1 AK225752.1 BC003615.2 
    CR456542.1 

    20 DOTS entries:

    DT.40286962  DT.412150  DT.100758416  DT.100803549  DT.100815593  DT.120651437  DT.120651427  DT.100687777 
    DT.95303703  DT.92438295  DT.120651401  DT.97848428  DT.95303704  DT.100815587  DT.100815589  DT.120651434 
    DT.120651343  DT.120651429  DT.40209926  DT.92069719 

    Selected AceView cDNA sequences (see all 761):

    BM740876 BQ214803 BM456163 BU735506 AI538702 BI869583 AA740561 CR618911 
    AW197176 CR604650 BQ647953 BG468491 AI922831 BC002371 W02583 CA430887 
    BU155813 BX381026 BM844876 Z98516 BU860595 BM794460 AA776696 BM757168 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for THOC5    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:              -     -                                                                                                                                       
    SP2:              -     -     -                                               -                 -                                                               
    SP3:                                                                    -     -                                                                                 
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 24b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for THOC5

    (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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    THOC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTCTTGA
    THOC5 Expression
    About this image

    THOC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THOC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75361

    UniProtKB/Swiss-Prot: THOC5_HUMAN, Q13769
    Tissue specificity: Ubiquitously expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THOC5

    (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.

    Orthologs for THOC5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thoc51 , 5 THO complex 51, 5 89.8(n)1
    96.05(a)1
      11 (3.09 cM)5
    1078291  NM_172438.31  NP_766026.11 
     48953205 
    chicken
    (Gallus gallus)
    Aves THOC51 THO complex 5 78.76(n)
    85.02(a)
      417019  NM_001006195.1  NP_001006195.1 
    lizard
    (Anolis carolinensis)
    Reptilia THOC56
    THO complex 5
    81(a)
    1 ↔ 1
    GL343417.1(53873-60992)
    African clawed frog
    (Xenopus laevis)
    Amphibia fmip-prov2 Fms interacting protein 75.52(n)    BC045075.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.22502 Danio rerio mRNA similar to Fms interacting protein more 76.45(n)    BC045980.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta thoc51 thoc5 44.6(n)
    31.38(a)
      37810  NM_138012.2  NP_611856.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y32H12A.26
    Protein Y32H12A.2, isoform a (Y32H12A.2) mRNA, com...
    25(a)
    1 ↔ 1
    III(5346133-5349493) WBGene00021311


    ENSEMBL Gene Tree for THOC5 (if available)
    TreeFam Gene Tree for THOC5 (if available)

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

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for THOC5 (see all 1024)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356934
    A breast cancer sample4--see VAR_0356932 G S mis40--------
    VAR_0356924
    A breast cancer sample4--see VAR_0356922 T K mis40--------
    rs770367941,2
    F--29903837(+) ATACAC/TGGATT 4 -- ds50011Minor allele frequency- T:0.10WA 118
    rs1445201741,2
    --29903838(+) TACACA/GGATTT 4 -- ds50010--------
    rs1491966621,2
    --29903980(+) ATCGGC/TAACCC 4 -- ds50010--------
    rs1433223541,2
    --29904007(+) AAGAGC/TGGGTG 4 -- ds50010--------
    rs1512827371,2
    --29904023(+) GGAAGA/GGTTTT 4 -- ds50010--------
    rs1416252261,2
    --29904143(+) GTGTGC/TGTAGA 4 -- ds50010--------
    rs1819061521,2
    --29904248(+) ACTGTC/GTCACA 4 -- ut310--------
    rs10495361,2
    C,F,O,H--29904354(-) ATATTC/TTCCAA 4 -- ut3129Minor allele frequency- T:0.13MN EA NA NS 2888

    HapMap Linkage Disequilibrium report for THOC5 (29901868 - 29951205 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for THOC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724126CNV Deletion23290073
    nsv834172CNV Loss17160897
    nsv510513CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THOC5
    DNA2.0 Custom Variant and Variant Library Synthesis for THOC5

    (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: 612733    OMIM disorders: --

    1 disease for THOC5:    
    About MalaCards
    meningioma


    Find genes that share disorders with THOC5           About GenesLikeMe

    Genetic Association Database (GAD): THOC5

    Export disorders for THOC5 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 THOC5 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with THOC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. THOC5 spliceosome protein: a target for leukaemogenic tyrosine kinases that affects inositol lipid turnover. (PubMed id 18373705)1, 2, 3 Pierce A....Whetton A.D. (Br. J. Haematol. 2008)
    2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    3. Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. (PubMed id 8242058)1, 2, 3 Xie Y.G.... Dumanski J.P. (Hum. Mol. Genet. 1993)
    4. Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). (PubMed id 19059247)1, 2, 9 El Bounkari O.... Tamura T. (FEBS Lett. 2009)
    5. A pathway from leukemogenic oncogenes and stem cell chemokines to RNA processing via THOC5. (PubMed id 23032722)1, 2 Griaud F....Whetton A.D. (Leukemia 2013)
    6. Human TREX component Thoc5 affects alternative polyadenylation site choice by recruiting mammalian cleavage factor I. (PubMed id 23685434)1, 2 Katahira J.... Ohkawa Y. (Nucleic Acids Res. 2013)
    7. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PubMed id 20009918)1, 4 Shrestha S....Grunfeld C. (AIDS 2010)
    8. Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA. (PubMed id 19165146)1, 2 Katahira J.... Yoneda Y. (EMBO J. 2009)
    9. THOC5 couples M-CSF receptor signaling to transcription factor expression. (PubMed id 19015024)1, 3 Carney L....Whetton A.D. (Cell. Signal. 2009)
    10. Recruitment of the complete hTREX complex is required for Kaposi's sarcoma-associated herpesvirus intronless mRNA nuclear export and virus replication. (PubMed id 18974867)1, 2 Boyne J.R.... Whitehouse A. (PLoS Pathog. 2008)

    (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: 8563 HGNC: 19074 AceView: NIPSNAP1andC22orf19 Ensembl:ENSG00000100296 euGenes: HUgn8563
    ECgene: THOC5 Kegg: 8563 H-InvDB: THOC5

    (According to HUGE)
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    HUGE: KIAA0983

    (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 THOC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for THOC5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for THOC5 gene:
    Search GeneIP for patents involving THOC5

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



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