ENSG00000164458


Homo sapiens

Features
Gene ID: ENSG00000164458
  
Biological name :TBXT
  
Synonyms : O15178 / T-box transcription factor T / TBXT
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q27
Gene start: 166157656
Gene end: 166168700
  
Corresponding Affymetrix probe sets: 206524_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000296946
Ensembl peptide - ENSP00000355836
Ensembl peptide - ENSP00000355841
Ensembl peptide - ENSP00000453512
NCBI entrez gene - 6862     See in Manteia.
OMIM - 601397
RefSeq - XM_011536080
RefSeq - NM_001270484
RefSeq - NM_003181
RefSeq Peptide - NP_001257413
RefSeq Peptide - NP_003172
swissprot - H0YM91
swissprot - J3KP65
swissprot - O15178
Ensembl - ENSG00000164458
  
Related genetic diseases (OMIM): 182940 - {Neural tube defects, susceptibility to}, 182940
  615709 - Sacral agenesis with vertebral anomalies, 615709

This gene has been taged as a transcription factor by TFT
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
 tbxtbENSDARG00000039806Danio rerio
 TENSGALG00000011489Gallus gallus
 TENSMUSG00000062327Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TBX19 / O60806 / T-box 19ENSG0000014317857
MGA / Q8IWI9 / MGA, MAX dimerization proteinENSG0000017419734
TBX21 / Q9UL17 / T-box 21ENSG0000007386130
TBR1 / Q16650 / T-box, brain 1ENSG0000013653528
EOMES / O95936 / eomesoderminENSG0000016350827


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 IPR002070  Transcription factor, Brachyury
 IPR008967  p53-like transcription factor, DNA-binding
 IPR018186  Transcription factor, T-box, conserved site
 IPR036960  T-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001839 neural plate morphogenesis IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0003007 heart morphogenesis IDA
 biological_processGO:0003257 positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007341 penetration of zona pellucida IEA
 biological_processGO:0007498 mesoderm development TAS
 biological_processGO:0007509 mesoderm migration involved in gastrulation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008595 anterior/posterior axis specification, embryo TAS
 biological_processGO:0009653 anatomical structure morphogenesis IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0014028 notochord formation IEA
 biological_processGO:0022414 reproductive process IEA
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IEA
 biological_processGO:0030509 BMP signaling pathway IEA
 biological_processGO:0030903 notochord development IEA
 biological_processGO:0036342 post-anal tail morphogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048706 embryonic skeletal system development IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0060349 bone morphogenesis IEA
 biological_processGO:0060395 SMAD protein signal transduction IEA
 biological_processGO:0061371 determination of heart left/right asymmetry IEA
 biological_processGO:0071300 cellular response to retinoic acid IEA
 biological_processGO:0090009 primitive streak formation NAS
 cellular_componentGO:0000785 chromatin IEA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding ISS
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


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:0003468 Abnormalities of the vertebrae 
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 HP:0003577 Onset at birth 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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