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TARDBP (TAR DNA binding protein)

Identity

Other namesALS10
TDP-43
HGNC (Hugo) TARDBP
LocusID (NCBI) 23435
Atlas_Id 51706
Location 1p36.22
Location_base_pair Starts at 11072679 and ends at 11085549 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TARDBP   11571
Cards
Entrez_Gene (NCBI)TARDBP  23435  TAR DNA binding protein
GeneCards (Weizmann)TARDBP
Ensembl hg19 (Hinxton) [Gene_View]  chr1:11072679-11085549 [Contig_View]  TARDBP [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:11072679-11085549 [Contig_View]  TARDBP [Vega]
TCGA cBioPortalTARDBP
AceView (NCBI)TARDBP
Genatlas (Paris)TARDBP
WikiGenes23435
SOURCE (Princeton)TARDBP
Genomic and cartography
GoldenPath hg19 (UCSC)TARDBP  -     chr1:11072679-11085549 +  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TARDBP  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblTARDBP - 1p36.22 [CytoView hg19]  TARDBP - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBITARDBP [Mapview hg19]  TARDBP [Mapview hg38]
OMIM605078   612069   
Gene and transcription
Genbank (Entrez)AF311304 AK222754 AK295920 AK299454 AK312416
RefSeq transcript (Entrez)NM_007375
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008734 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)TARDBP
Cluster EST : UnigeneHs.300624 [ NCBI ]
CGAP (NCI)Hs.300624
Alternative Splicing : Fast-db (Paris)GSHG0000114
Gene ExpressionTARDBP [ NCBI-GEO ]     TARDBP [ SEEK ]   TARDBP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13148 (Uniprot)
NextProtQ13148  [Medical]  [Publications]
With graphics : InterProQ13148
Splice isoforms : SwissVarQ13148 (Swissvar)
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom   
Related proteins : CluSTrQ13148
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
DMDM Disease mutations23435
Blocks (Seattle)Q13148
PDB (SRS)1WF0    2CQG    4BS2    4IUF   
PDB (PDBSum)1WF0    2CQG    4BS2    4IUF   
PDB (IMB)1WF0    2CQG    4BS2    4IUF   
PDB (RSDB)1WF0    2CQG    4BS2    4IUF   
Peptide AtlasQ13148
HPRD05466
IPIIPI00971018   IPI00025815   IPI00844544   IPI00910355   IPI00009928   IPI00977115   IPI00639819   
Protein Interaction databases
DIP (DOE-UCLA)Q13148
IntAct (EBI)Q13148
BioGRIDTARDBP
IntegromeDBTARDBP
STRING (EMBL)TARDBP
Ontologies - Pathways
QuickGOQ13148
Ontology : AmiGOnucleotide binding  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  negative regulation of protein phosphorylation  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  RNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  cytoplasm  transcription from RNA polymerase II promoter  mRNA processing  RNA splicing  negative regulation of gene expression  nuclear speck  nuclear fragmentation involved in apoptotic nuclear change  positive regulation of insulin secretion  response to endoplasmic reticulum stress  interchromatin granule  identical protein binding  negative regulation by host of viral transcription  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  3'-UTR-mediated mRNA stabilization  nuclear inner membrane organization  
Ontology : EGO-EBInucleotide binding  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  negative regulation of protein phosphorylation  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  RNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  cytoplasm  transcription from RNA polymerase II promoter  mRNA processing  RNA splicing  negative regulation of gene expression  nuclear speck  nuclear fragmentation involved in apoptotic nuclear change  positive regulation of insulin secretion  response to endoplasmic reticulum stress  interchromatin granule  identical protein binding  negative regulation by host of viral transcription  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  3'-UTR-mediated mRNA stabilization  nuclear inner membrane organization  
Protein Interaction DatabaseTARDBP
DoCM (Curated mutations)TARDBP
Wikipedia pathwaysTARDBP
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerTARDBP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TARDBP
dbVarTARDBP
ClinVarTARDBP
1000_GenomesTARDBP 
Exome Variant ServerTARDBP
SNP (GeneSNP Utah)TARDBP
SNP : HGBaseTARDBP
Genetic variants : HAPMAPTARDBP
Genomic Variants (DGV)TARDBP [DGVbeta]
Mutations
ICGC Data PortalTARDBP 
TCGA Data PortalTARDBP 
Tumor PortalTARDBP
Somatic Mutations in Cancer : COSMICTARDBP 
LOVD (Leiden Open Variation Database)genes/TARDBP
LOVD (Leiden Open Variation Database)genes/TARDBP
LOVD (Leiden Open Variation Database)genes/TARDBP
LOVD (Leiden Open Variation Database)genes/TARDBP
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:11072679-11085549
CONAN: Copy Number AnalysisTARDBP 
Mutations and Diseases : HGMDTARDBP
OMIM605078    612069   
MedgenTARDBP
NextProtQ13148 [Medical]
GENETestsTARDBP
Disease Genetic AssociationTARDBP
Huge Navigator TARDBP [HugePedia]  TARDBP [HugeCancerGEM]
snp3D : Map Gene to Disease23435
DGIdb (Drug Gene Interaction db)TARDBP
BioCentury BCIQTARDBP
General knowledge
Homologs : HomoloGeneTARDBP
Homology/Alignments : Family Browser (UCSC)TARDBP
Phylogenetic Trees/Animal Genes : TreeFamTARDBP
Chemical/Protein Interactions : CTD23435
Chemical/Pharm GKB GenePA36336
Clinical trialTARDBP
Other databases
Probes
Litterature
PubMed392 Pubmed reference(s) in Entrez
CoreMineTARDBP
GoPubMedTARDBP
iHOPTARDBP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 19:25:41 CEST 2015

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