ENSG00000168769


Homo sapiens

Features
Gene ID: ENSG00000168769
  
Biological name :TET2
  
Synonyms : Q6N021 / TET2 / tet methylcytosine dioxygenase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q24
Gene start: 105145875
Gene end: 105279816
  
Corresponding Affymetrix probe sets: 1569385_s_at (Human Genome U133 Plus 2.0 Array)   227624_at (Human Genome U133 Plus 2.0 Array)   235461_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265149
Ensembl peptide - ENSP00000442788
Ensembl peptide - ENSP00000426885
Ensembl peptide - ENSP00000425443
Ensembl peptide - ENSP00000391448
Ensembl peptide - ENSP00000369351
Ensembl peptide - ENSP00000306705
NCBI entrez gene - 54790     See in Manteia.
OMIM - 612839
RefSeq - XM_006714242
RefSeq - NM_001127208
RefSeq - NM_017628
RefSeq - XM_005263082
RefSeq Peptide - NP_060098
RefSeq Peptide - NP_001120680
swissprot - E7EQS8
swissprot - D6RE87
swissprot - A0A158SIU0
swissprot - E7EPB1
swissprot - A0A024RDF7
swissprot - Q6N021
Ensembl - ENSG00000168769
  
Related genetic diseases (OMIM): 614286 - Myelodysplastic syndrome, somatic, 614286
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
 tet2ENSDARG00000076928Danio rerio
 TET2ENSGALG00000010592Gallus gallus
 Tet2ENSMUSG00000040943Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TET3 / O43151 / tet methylcytosine dioxygenase 3ENSG0000018760527
TET1 / Q8NFU7 / tet methylcytosine dioxygenase 1ENSG0000013833623
CXXC4 / CXXC finger protein 4ENSG000001687723
CXXC5 / Q7LFL8 / CXXC finger protein 5ENSG000001716042


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR024779  2OGFeDO, oxygenase domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006211 5-methylcytosine catabolic process IDA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006493 protein O-linked glycosylation IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0030099 myeloid cell differentiation IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0080111 DNA demethylation IDA
 biological_processGO:0080182 histone H3-K4 trimethylation IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008198 ferrous iron binding IDA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA
 molecular_functionGO:0070579 methylcytosine dioxygenase activity ISS


Pathways (from Reactome)
Pathway description
TET1,2,3 and TDG demethylate DNA


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000225 Gingival bleeding 
Show

 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
Show

 HP:0000421 Epistaxis 
Show

 HP:0000978 Ecchymoses 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
Show

 HP:0001297 Stroke 
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 HP:0001409 Portal hypertension 
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 HP:0001428 Somatic mutation 
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 HP:0001658 Myocardial infarction 
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 HP:0001681 Angina pectoris 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0002027 Abdominal pain 
Show

 HP:0002093 Respiratory insufficiency 
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 HP:0002204 Pulmonary embolism 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
Show

 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
Show

 HP:0002326 Transient ischemic attack 
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 HP:0002488 Acute leukemia 
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 HP:0002639 Budd-Chiari syndrome 
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 HP:0002829 Arthralgia 
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 HP:0002863 Myelodysplasia 
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 HP:0003010 Prolonged bleeding time 
Show

 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0004417 Intermittent claudication 
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 HP:0004420 Arterial thrombosis 
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 HP:0004936 Venous thrombosis 
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 HP:0005513 Increased megakaryocyte precursor cells 
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 HP:0011875 Abnormal platelet morphology "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson]
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 HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
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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:0030242 Portal vein thrombosis "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890]
Show

 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
Show

 HP:0100749 Chest pain 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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