Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23435
Gene name Gene Name - the full gene name approved by the HGNC.
TAR DNA binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TARDBP
Synonyms (NCBI Gene) Gene synonyms aliases
ALS10, TDP-43
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs4884357 G>A,T Pathogenic, pathogenic-likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs80356717 A>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs80356718 A>G Pathogenic Missense variant, coding sequence variant
rs80356719 G>A,C Likely-pathogenic, uncertain-significance, pathogenic Missense variant, coding sequence variant
rs80356721 G>A,C,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021204 hsa-miR-186-5p Sequencing 20371350
MIRT026694 hsa-miR-192-5p Microarray 19074876
MIRT046426 hsa-miR-15b-5p CLASH 23622248
MIRT046010 hsa-miR-125b-5p CLASH 23622248
MIRT038804 hsa-miR-93-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001933 Process Negative regulation of protein phosphorylation IMP 18305152
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding EXP 26735904
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605078 11571 ENSG00000120948
Protein
UniProt ID Q13148
Protein name TAR DNA-binding protein 43 (TDP-43)
Protein function RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long
PDB 1WF0 , 2CQG , 2N2C , 2N3X , 2N4G , 2N4H , 2N4P , 4BS2 , 4IUF , 4Y00 , 4Y0F , 5MDI , 5MRG , 5W50 , 5W52 , 5W7V , 5WHN , 5WHP , 5WIA , 5WIQ , 5WKB , 5WKD , 5X4F , 6B1G , 6CF4 , 6CFH , 6N37 , 6N3A , 6N3B , 6N3C , 6T4B , 7KWZ , 7N9H , 7PY2 , 7Q3U , 8A6I , 8CG3 , 8CGG , 8CGH , 8QX9 , 8QXA , 8QXB , 9FOF , 9FOR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18694 TDP43_N 4 77 Transactive response DNA-binding protein N-terminal domain Domain
PF00076 RRM_1 106 172 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 193 243 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
Sequence
MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGI
LHAPDAGWGNLVYVVNY
PKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDL
KEYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRW
CDCKLPNS
KQSQDEPLRSRKVFVGRCTEDMTEDELREFFSQYGDVMDVFIPKPFRAFAFVTFADDQIA
QSL
CGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLG
NNQGSNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQNQGNMQ
REPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM
Sequence length 414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  mRNA surveillance pathway
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 10 rs80356726, rs1643659556, rs80356734, rs367543041, rs80356730, rs80356740, rs80356727, rs80356719, rs4884357, rs80356717, rs80356723, rs80356733, rs80356725, rs80356731 N/A
Frontotemporal dementia frontotemporal dementia rs1570725499 N/A
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS frontotemporal dementia with tdp43 inclusions, tardbp-related rs267607102, rs367543041 N/A
Motor Neuron Disease motor neuron disease rs1131690782, rs80356719 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Frontotemporal Dementia With Motor Neuron Disease frontotemporal dementia with motor neuron disease N/A N/A GenCC
Myositis inclusion body myositis N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 25921485, 26735904, 29531287, 29786080, 35637421
Adenocarcinoma of Lung Associate 38281298
Alcohol Amnestic Disorder Associate 21346515
Alopecia Associate 23942216, 26001114
Alzheimer Disease Associate 20142524, 20197700, 20361198, 21031599, 21346515, 24240737, 24690380, 26224156, 26260327, 26507309, 27694152, 28167528, 28332094, 28630030, 29438978
View all (21 more)
Amyotrophic Lateral Sclerosis Associate 17898224, 17936612, 17984323, 18396105, 18505686, 18545701, 18703504, 18723384, 18779421, 18802454, 19111550, 19112176, 19139310, 19338576, 19383787
View all (288 more)
Amyotrophic Lateral Sclerosis Stimulate 34544842, 39241471
Amyotrophic lateral sclerosis 1 Associate 18779421, 18802454, 19411082, 19450904, 19618195, 20031275, 20082726, 20154440, 20558945, 20577002, 20598774, 21667065, 22451909, 23006766, 23874513
View all (21 more)
Amyotrophic lateral sclerosis 1 Stimulate 23678876
Aphasia Primary Progressive Associate 20361198, 20479359, 24574501, 26791154, 28912300, 28986472, 30599136, 30988363, 31350420, 33441454, 34333853, 38514176