ENSG00000120948


Homo sapiens

Features
Gene ID: ENSG00000120948
  
Biological name :TARDBP
  
Synonyms : Q13148 / TARDBP / TAR DNA binding protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.22
Gene start: 11012344
Gene end: 11026420
  
Corresponding Affymetrix probe sets: 200020_at (Human Genome U133 Plus 2.0 Array)   221264_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000481206
Ensembl peptide - ENSP00000466842
Ensembl peptide - ENSP00000467020
Ensembl peptide - ENSP00000477852
Ensembl peptide - ENSP00000479219
Ensembl peptide - ENSP00000479758
Ensembl peptide - ENSP00000479978
Ensembl peptide - ENSP00000480690
Ensembl peptide - ENSP00000480771
Ensembl peptide - ENSP00000481330
Ensembl peptide - ENSP00000492196
Ensembl peptide - ENSP00000491203
Ensembl peptide - ENSP00000491085
Ensembl peptide - ENSP00000486989
Ensembl peptide - ENSP00000484722
Ensembl peptide - ENSP00000482754
Ensembl peptide - ENSP00000482559
Ensembl peptide - ENSP00000482191
Ensembl peptide - ENSP00000240185
Ensembl peptide - ENSP00000313129
Ensembl peptide - ENSP00000404666
Ensembl peptide - ENSP00000432132
Ensembl peptide - ENSP00000465080
Ensembl peptide - ENSP00000465240
Ensembl peptide - ENSP00000465888
NCBI entrez gene - 23435     See in Manteia.
OMIM - 605078
RefSeq - XM_017000867
RefSeq - XM_017000866
RefSeq - XM_017000865
RefSeq - XM_017000864
RefSeq - XM_017000863
RefSeq - NM_007375
RefSeq - XM_017000868
RefSeq Peptide - NP_031401
swissprot - B1AKP7
swissprot - A0A1W2PNU8
swissprot - A0A0A0MSV7
swissprot - A0A087X260
swissprot - A0A087WZM1
swissprot - A0A087WZC9
swissprot - A0A087WYY0
swissprot - A0A087WXV3
swissprot - G3V162
swissprot - K7EJ99
swissprot - K7EJM5
swissprot - K7EL26
swissprot - K7EN94
swissprot - K7ENM9
swissprot - A0A087WXQ5
swissprot - A0A087WX67
swissprot - Q13148
swissprot - A0A087WX29
swissprot - A0A087WW61
swissprot - A0A087WVX6
swissprot - A0A087WV68
swissprot - A0A087WTG4
swissprot - A0A024R4E2
Ensembl - ENSG00000120948
  
Related genetic diseases (OMIM): 612069 - Amyotrophic lateral sclerosis 10, with or without FTD, 612069
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tardbpENSDARG00000040031Danio rerio
 tardbplENSDARG00000004452Danio rerio
 TARDBPENSGALG00000002906Gallus gallus
 Q921F2ENSMUSG00000041459Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O14979 / HNRNPDL / heterogeneous nuclear ribonucleoprotein D likeENSG0000015279524
HNRNPD / Q14103 / heterogeneous nuclear ribonucleoprotein DENSG0000013866823
DAZAP1 / Q96EP5 / DAZ associated protein 1ENSG0000007162621
MSI1 / O43347 / musashi RNA binding protein 1ENSG0000013509721
Q99729 / HNRNPAB / heterogeneous nuclear ribonucleoprotein A/BENSG0000019745121
MSI2 / Q96DH6 / musashi RNA binding protein 2ENSG0000015394420


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR035979  RNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008380 RNA splicing IDA
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0032024 positive regulation of insulin secretion IEA
 biological_processGO:0034976 response to endoplasmic reticulum stress IEA
 biological_processGO:0042981 regulation of apoptotic process IMP
 biological_processGO:0043922 negative regulation by host of viral transcription IDA
 biological_processGO:0051726 regulation of cell cycle IMP
 biological_processGO:0070935 3"-UTR-mediated mRNA stabilization IDA
 biological_processGO:0071765 nuclear inner membrane organization IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005726 perichromatin fibrils IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0035061 interchromatin granule IEA
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000733 Stereotyped, repetitive behaviour 
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 HP:0000734 Disinhibition 
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 HP:0000739 Anxiety 
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 HP:0000741 Apathy 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002747 Respiratory insufficiency due to muscle weakness 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003678 Rapidly progressive 
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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 HP:0030223 Perseveration "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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