Gene Gene information from NCBI Gene database.
Entrez ID 23435
Gene name TAR DNA binding protein
Gene symbol TARDBP
Synonyms (NCBI Gene)
ALS10TDP-43
Chromosome 1
Chromosome location 1p36.22
Summary 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.
23
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.
794
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605078 11571 ENSG00000120948
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyotrophic lateral sclerosis type 10 Pathogenic; Likely pathogenic rs766196255, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs1553159739, rs80356732, rs80356734, rs367543041, rs80356740, rs80356719, rs80356723
View all (4 more)
RCV002664150
RCV000005539
RCV000005540
RCV000005543
RCV000005544
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia Likely pathogenic rs1570725499 RCV000986235
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED Pathogenic; Likely pathogenic rs267607102, rs367543041 RCV000005549
RCV000106321
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Pathogenic; Likely pathogenic rs766196255, rs80356730, rs4884357, rs80356733, rs80356726, rs80356732, rs80356734, rs367543041, rs80356740, rs80356719, rs80356723, rs80356725, rs1304706298, rs1557660662 RCV002664150
RCV000693006
RCV001851670
RCV001851671
RCV001384596
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 25907990
★☆☆☆☆
Found in Text Mining only
Alexander Disease Alexander Disease BEFREE 24806671
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 23942216
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20142524, 20197700, 20361198, 21031599, 21346515, 24240737, 24690380, 26224156, 26260327, 26507309, 27694152, 28167528, 28332094, 28630030, 29438978
View all (21 more)
Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 21968532
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 26224156, 30010126, 30922385, 31056344, 31678156
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 23124365, 26979082, 27785573, 28395086, 30382507, 30464263
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17023659, 17469116, 17481916, 17543992, 17614162, 17702495, 17764635, 17984323, 18068872, 18090423, 18305110, 18309045, 18372902, 18396105, 18438952
View all (696 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis LHGDN 17023659, 17492294, 17569066, 18305110, 18309045, 18372902, 18438952, 18520774, 18656473, 18779421, 18802454, 18843496, 18923836, 18931000, 19191304
★★☆☆☆
Found in Text Mining + Unknown/Other Associations