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

TARDBP Gene

protein-coding   GIFtS: 63
GCID: GC01P011006

TAR DNA Binding Protein

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
TAR DNA Binding Protein1 2
TDP-432 3
ALS102 5
TDP433 5
TAR DNA-Binding Protein 432
TAR DNA-Binding Protein-432

External Ids:    HGNC: 115711   Entrez Gene: 234352   Ensembl: ENSG000001209487   OMIM: 6050785   UniProtKB: Q131483   

Export aliases for TARDBP gene to outside databases

Previous GC identifers: GC01P011033 GC01P010916 GC01P010682 GC01P010782 GC01P010224


(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 TARDBP Gene:
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a
chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the
transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription
initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally
integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of
the CFTR gene. A similar pseudogene is present on chromosome 20. (provided by RefSeq, Jul 2008)

GeneCards Summary for TARDBP Gene: 
TARDBP (TAR DNA binding protein) is a protein-coding gene. Diseases associated with TARDBP include tardbp-related frontotemporal dementia, and amyotrophic lateral sclerosis type 10. GO annotations related to this gene include nucleotide binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MSI2.

UniProtKB/Swiss-Prot: TADBP_HUMAN, Q13148
Function: DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of
CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region
near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features
typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress
HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight
neurofilament (NFL) mRNA through a direct interaction with the 3' UTR

Gene Wiki entry for TARDBP 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TARDBP gene promoter:
         Pbx1a   Tal-1   STAT5A   IRF-1   E47   HEN1   Hand1   c-Myb   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTARDBP promoter sequence
   Search SABiosciences Chromatin IP Primers for TARDBP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TARDBP


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011006:  view genomic region     (about GC identifiers)

Start:
11,072,414 bp from pter      End:
11,085,796 bp from pter
Size:
13,383 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TADBP_HUMAN, Q13148 (See protein sequence)
Recommended Name: TAR DNA-binding protein 43  
Size: 414 amino acids; 44740 Da
Subunit: Homodimer. Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA
and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun
of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent
Subcellular location: Nucleus. Note=In patients with frontotemporal lobar degeneration and amyotrophic lateral
sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic
ubiquitin-positive inclusion bodies
2 PDB 3D structures from and Proteopedia for TARDBP:
1WF0 (3D)        2CQG (3D)    
Secondary accessions: A4GUK4 A4GUK5 A4GUK6 B2R629 E2PU12 Q53H27 Q6FI92 Q96DJ0
Alternative splicing: 3 isoforms:  Q13148-1   Q13148-2   Q13148-3   

Explore the universe of human proteins at neXtProt for TARDBP: NX_Q13148

Explore proteomics data for TARDBP at MOPED 

Post-translational modifications:

  • UniProtKB: Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU
  • UniProtKB: Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU
  • UniProtKB: Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with
    ALS and FTLDU
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13148

  • TARDBP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TARDBP Protein Expression
    REFSEQ proteins: NP_031401.1  
    ENSEMBL proteins: 
     ENSP00000465240   ENSP00000240185   ENSP00000466842   ENSP00000465080   ENSP00000313129  
     ENSP00000432132   ENSP00000465888   ENSP00000467020   ENSP00000404666  

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    Novus Biologicals TARDBP Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    TARDBP for ontologies           About GeneDecksing



    TARDBP Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q13148

    ProtoNet protein and cluster: Q13148

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: TADBP_HUMAN, Q13148
    Domain: The RRM domains can bind to both DNA and RNA (By similarity)
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    TARDBP for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TADBP_HUMAN, Q13148
    Function: DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of
    CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region
    near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features
    typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress
    HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight
    neurofilament (NFL) mRNA through a direct interaction with the 3' UTR

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IDA7745706
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7745706
         
    TARDBP for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tardbp):
     adipose tissue  behavior/neurological  cellular  embryogenesis  growth/size 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis 

    TARDBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TARDBP: Tardbptm1.1Ckjs Tardbptm1.2Pcw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TARDBP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TARDBP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TARDBP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TARDBP 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTARDBP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TARDBP


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TARDBP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TARDBP
        Neuroscience




    TARDBP for pathways           About GeneDecksing

    Interactions:

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

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

    5/823 Interacting proteins for TARDBP (Q131481, 2, 3 ENSP000002401854) via UniProtKB, MINT, STRING, and/or I2D (see all 823)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRN2Q9H0D62, 3, ENSP000003663964MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000366396
    FUSP356372, 3, ENSP000002541084MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000254108
    IRAK2O431871, 3, ENSP000002564584EBI-372899,EBI-447733 I2D: score=1 STRING: ENSP00000256458
    NSFP464592, 3MINT-7945693 MINT-7947479 I2D: score=1 
    PRKAG1P546192, 3MINT-7945693 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS7745706
    GO:0006397mRNA processing IEA--
    GO:0008219cell death IEA--
    GO:0008380RNA splicing IDA11285240
    GO:0043922negative regulation by host of viral transcription IDA7745706

    TARDBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TARDBP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TARDBP (TADBP)

    1 Novoseek inferred chemical compound relationship for TARDBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    superoxide 16.9 4 18396105 (1), 19104447 (1), 20232451 (1)

    Search CenterWatch for drugs/clinical trials and news about TARDBP / TADBP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TARDBP gene: 
    NM_007375.3  

    Unigene Cluster for TARDBP:

    TAR DNA binding protein
    Hs.300624  [show with all ESTs]
    Unigene Representative Sequence: NM_007375
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473118 ENST00000240185(uc001art.3 uc010oap.2) ENST00000476201
    ENST00000472476 ENST00000315091 ENST00000473869 ENST00000477447 ENST00000496840
    ENST00000480464 ENST00000439080
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/96 QIAGEN miScript miRNA Assays for microRNAs that regulate TARDBP (see all 96):
    hsa-miR-549 hsa-miR-607 hsa-miR-520e hsa-miR-520f hsa-miR-218-1* hsa-miR-1260b hsa-miR-3653 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidTARDBP 3' UTR sequence
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    Additional mRNA sequence: 

    AF311304.1 AK222754.1 AK295920.1 AK299454.1 AK312416.1 AL050265.1 BC001487.2 BC059955.1 
    BC071657.1 BC095435.1 CR533534.1 EF434181.1 EF434182.1 EF434183.1 U23731.1 

    24/35 DOTS entries (see all 35):

    DT.419641  DT.100882432  DT.100882435  DT.100882440  DT.121392100  DT.451822  DT.100882442  DT.97860226 
    DT.100032539  DT.97856390  DT.100882434  DT.410821  DT.75151703  DT.91786971  DT.100882437  DT.91884354 
    DT.40107291  DT.100038829  DT.100882443  DT.121392045  DT.100882429  DT.121392089  DT.105463  DT.121392078 

    24/668 AceView cDNA sequences (see all 668):

    AI203100 AA494394 BX093836 AA524141 AI436335 BQ774597 BQ446424 BQ224751 
    AI262160 BE502378 AA025965 BP360056 BU552536 AW612971 AA862797 AV704254 
    AA626812 AI924941 BX951678 BU845664 BF939587 F04133 NM_007375 F06229 

    GeneLoc Exon Structure


    (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

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


    TARDBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             future brain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See TARDBP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TARDBP

    SOURCE GeneReport for Unigene cluster: Hs.300624

    UniProtKB/Swiss-Prot: TADBP_HUMAN, Q13148
    Tissue specificity: Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital
    tract and spleen

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

    (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 animals.

    Orthologs for TARDBP gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tardbp1 , 5 TAR DNA binding protein1, 5 90.34(n)1
    96.14(a)1
      4 (78.77 cM)5
    2309081  NM_145556.41  NP_663531.11 
     1486123825 
    chicken
    (Gallus gallus)
    Aves TARDBP1 TAR DNA binding protein 82.45(n)
    95.17(a)
      419453  NM_001030878.1  NP_001026049.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia tardbp-prov2 TAR DNA binding protein 80.44(n)    BC044271.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb77f022 Danio rerio mRNA similar to TAR DNA binding protein more 75.89(n)    BC049348.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta TBPH1 , 3 RNA binding3
    CG10327-PA1
    56(a)
    (best of 2)3
    53.17(n)1
    50.79(a)1
      377811  NM_166628.21  NP_726373.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F44G4.43
    tdp-11
    RNA binding protein3
    Protein TDP-11
    38(a)3
    50.12(n)1
    43.88(a)1
      II(8997742-8999439)3
    1744361  NM_001026995.41  NP_001022166.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TARDBP gene
    MSI22  MSI12  
    7 SIMAP similar genes for TARDBP using alignment to 10 protein entries:     TADBP_HUMAN (see all proteins):
    SS18    NARF    MSI2    HNRNPD    SLIRP    CIRBP
    HNRNPA1

    TARDBP for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for TARDBP (see all 6)
    PGOHUM00000248612 PGOHUM00000247437 PGOHUM00000241150 PGOHUM00000243309 PGOHUM00000260408


    (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) 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

    10/418 SNPs in TARDBP are shown (see all 418)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675004
    Amyotrophic lateral sclerosis 10 (ALS10)4--see VAR_0675002 R T mis40--------
    VAR_0456674
    Amyotrophic lateral sclerosis 10 (ALS10)4--see VAR_0456672 A T mis40--------
    VAR_0586124
    Amyotrophic lateral sclerosis 10 (ALS10)4--see VAR_0586122 G V mis40--------
    VAR_0674994
    Amyotrophic lateral sclerosis 10 (ALS10)4--see VAR_0674992 G R mis40--------
    rs803567171,2,4
    CAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111097684(+) GATAGA/GTGGAC 2 D G mis10--------
    rs803567181,2,4
    CAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111101057(+) TAGCAA/GTAGAC 2 N S mis10--------
    rs803567191,2,4
    CAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111101116(+) ATCAGA/C/GGTGGA 3 S R G mis10--------
    rs803567211,2,4
    CAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111101138(+) CAGAGC/G/TGGGTG 3 A G V mis10--------
    rs803567231,2,4
    CAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111101140(+) GAGGGA/C/GGTGGA 3 S R G mis10--------
    rs48843571,2,4
    C,F,HAmyotrophic lateral sclerosis 10 (ALS10)4 pathogenic111101149(+) GAGCTG/ATTTTG 2 /S /G mis116Minor allele frequency- A:0.06NA NS EA WA CSA 800

    HapMap Linkage Disequilibrium report for TARDBP (11072414 - 11085796 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TARDBP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832425CNV Loss17160897


    Human Gene Mutation Database (HGMD): TARDBP

    Locus Specific Mutation Databases (LSDB): TARDBP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TARDBP
    DNA2.0 Custom Variant and Variant Library Synthesis for TARDBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605078   
    OMIM disorders: 612069  
    UniProtKB/Swiss-Prot: TADBP_HUMAN, Q13148
  • Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/47 diseases for TARDBP (see all 47):    About MalaCards
    tardbp-related frontotemporal dementia    amyotrophic lateral sclerosis type 10    amyotrophic lateral sclerosis 10, with or without ftd    tardbp-related amyotrophic lateral sclerosis
    frontotemporal lobar degeneration, tardbp-related    acquired immunodeficiency syndrome    frontotemporal lobar degeneration with ubiquitin-positive inclusions    amyotrophic lateral sclerosis with frontotemporal dementia
    primary progressive aphasia    perry syndrome    argyrophilic grain disease    semantic dementia
    aphasia    amyotrophic lateral sclerosis    frontotemporal dementia    corticobasal degeneration
    motor neuron disease    dementia    machado-joseph disease    lateral sclerosis

    5 diseases from the University of Copenhagen DISEASES database for TARDBP:
    Frontotemporal dementia     Amyotrophic lateral sclerosis     Aphasia     Progressive supranuclear palsy
    Lateral sclerosis

    TARDBP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/13 Novoseek inferred disease relationships for TARDBP gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    frontotemporal dementia 96.1 125 18989115 (3), 18087705 (2), 18535185 (2), 19618195 (2) (see all 77)
    amyotrophic lateral sclerosis 92.3 141 18989115 (4), 19760257 (2), 18396105 (2), 18802454 (2) (see all 76)
    motor neuron disease 85.1 18 18087705 (2), 18288693 (1), 19554515 (1), 17492294 (1) (see all 11)
    inclusion body myopathy 80.4 2 18796596 (2)
    neurodegeneration 75.6 28 18396105 (2), 17898224 (2), 18068872 (1), 18634762 (1) (see all 14)
    neurodegenerative diseases 75.2 35 19554515 (3), 18802454 (2), 18929508 (2), 18288693 (1) (see all 16)
    picks disease 72.2 3 18091558 (1), 18607609 (1), 19554515 (1)
    dementia 63.8 23 19112176 (1), 19760257 (1), 19458543 (1), 19411082 (1) (see all 10)
    alzheimers disease 55 17 18634762 (2), 18592255 (2), 18929508 (1), 19554515 (1) (see all 12)
    neurofibrillary tangles 45.4 1 18592255 (1)

    GeneTests: TARDBP
    GeneReviews: TARDBP
    Genetic Association Database (GAD): TARDBP
    Human Genome Epidemiology (HuGE) Navigator: TARDBP (24 documents)

    Export disorders for TARDBP 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 TARDBP gene, integrated from 9 sources (see all 404):
    (articles sorted by number of sources associating them with TARDBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. (PubMed id 7745706)1, 2, 3, 9 Ou S.-H.I.... Gaynor R.B. (1995)
    2. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PubMed id 19224587)1, 2, 4, 9 Corrado L.... D'Alfonso S. (2009)
    3. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. (PubMed id 18802454)1, 4, 9 Rutherford N.J....Rademakers R. (2008)
    4. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. (PubMed id 18396105)1, 2, 9 Van Deerlin V.M....Yu C.E. (2008)
    5. TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. (PubMed id 19236453)1, 4, 9 Del Bo R....Comi G.P. (2009)
    6. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. (PubMed id 19411082)1, 4, 9 Kamada M....Kawakami H. (2009)
    7. Association between novel TARDBP mutations and Chines e patients with amyotrophic lateral sclerosis. (PubMed id 20082726)1, 4, 9 Xiong H.L....Wu Z.Y. (2010)
    8. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. (PubMed id 19350673)1, 2, 9 Benajiba L....Brice A. (2009)
    9. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. (PubMed id 18309045)1, 2, 9 Sreedharan J....Shaw C.E. (2008)
    10. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. (PubMed id 18068872)1, 4, 9 Gijselinck I....Cruts M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23435 HGNC: 11571 AceView: TARDBP Ensembl:ENSG00000120948 euGenes: HUgn23435
    ECgene: TARDBP H-InvDB: TARDBP

    (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 TARDBP 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 TARDBP gene:
    Search GeneIP for patents involving TARDBP

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



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