ENSG00000111802


Homo sapiens

Features
Gene ID: ENSG00000111802
  
Biological name :TDP2
  
Synonyms : O95551 / TDP2 / tyrosyl-DNA phosphodiesterase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p22.3
Gene start: 24649977
Gene end: 24667033
  
Corresponding Affymetrix probe sets: 202266_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000345345
Ensembl peptide - ENSP00000367440
NCBI entrez gene - 51567     See in Manteia.
OMIM - 605764
RefSeq - NM_016614
RefSeq Peptide - NP_057698
swissprot - O95551
swissprot - X6R5A3
Ensembl - ENSG00000111802
  
Related genetic diseases (OMIM): 616949 - Spinocerebellar ataxia, autosomal recessive 23, 616949
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
 tdp2aENSDARG00000069941Danio rerio
 tdp2bENSDARG00000035954Danio rerio
 TDP2ENSGALG00000013637Gallus gallus
 Tdp2ENSMUSG00000035958Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005135  Endonuclease/exonuclease/phosphatase
 IPR009060  UBA-like superfamily
 IPR036691  Endonuclease/exonuclease/phosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0048666 neuron development IMP
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:1903507 negative regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016235 aggresome IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0016605 PML body IEA
 molecular_functionGO:0000287 magnesium ion binding TAS
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030145 manganese ion binding IDA
 molecular_functionGO:0036317 tyrosyl-RNA phosphodiesterase activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070260 5"-tyrosyl-DNA phosphodiesterase activity IMP


Pathways (from Reactome)
Pathway description
Nonhomologous End-Joining (NHEJ)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001999 Facial dysmorphism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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