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TARDBP (TAR DNA binding protein)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23435
Gene nameGene Name - the full gene name approved by the HGNC.
TAR DNA binding protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TARDBP
SynonymsGene synonyms aliases
ALS10, TDP-43
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
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:0003690 Function Double-stranded DNA binding IDA 7745706
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGI
LHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDL
KEYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNS
KQSQDEPLRSRKVFVGRCTEDMTEDELREFFSQYGDVMDVFIPKPFRAFAFVTFADDQIA
QSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLG
NNQGSNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQNQGNMQ
REPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM
Sequence length 414
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  mRNA surveillance pathway
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder), Amyotrophic Lateral Sclerosis 10 rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 24252504, 24019256, 23104007, 18372902, 22879928, 21167262, 24085347, 24019256, 18372902, 23104007, 21167262, 22879928, 24252504, 25442115, 22456481, 18372902, 20600671, 28430856, 18396105, 20624952, 21220647, 23401527, 23827948, 19350673, 18309045, 18438952, 28709720, 21418058, 19655382, 19465477, 18288693, 19224587, 24477737, 20154440, 23235148, 19760257, 19695877, 24507191, 23881933, 22539580, 20740007, 24143176
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Frontotemporal dementia Frontotemporal dementia, Frontotemporal Lobar Degeneration rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336 20697052, 18372902, 24019256, 24252504
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia 28196072
Amyotrophic lateral sclerosis with dementia Amyotrophic Lateral Sclerosis With Dementia 23104007, 18372902, 24019256, 24252504, 21167262, 22879928
Amyotrophy Generalized amyotrophy
Anxiety disorder Anxiety

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