ENSG00000164532


Homo sapiens

Features
Gene ID: ENSG00000164532
  
Biological name :TBX20
  
Synonyms : Q9UMR3 / T-box 20 / TBX20
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p14.2
Gene start: 35202430
Gene end: 35254147
  
Corresponding Affymetrix probe sets: 1564945_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386170
NCBI entrez gene - 57057     See in Manteia.
OMIM - 606061
RefSeq - NM_001166220
RefSeq - NM_001077653
RefSeq Peptide - NP_001071121
RefSeq Peptide - NP_001159692
swissprot - Q9UMR3
Ensembl - ENSG00000164532
  
Related genetic diseases (OMIM): 611363 - Atrial septal defect 4, 611363

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
 tbx20ENSDARG00000005150Danio rerio
 TBX20ENSGALG00000032097Gallus gallus
 Tbx20ENSMUSG00000031965Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TBX15 / Q96SF7 / T-box 15ENSG0000009260740
TBX18 / O95935 / T-box 18ENSG0000011283739
TBX22 / Q9Y458 / T-box 22ENSG0000012214537
TBX1 / O43435 / T-box 1ENSG0000018405833
TBX2 / Q13207 / T-box 2ENSG0000012106833
TBX3 / O15119 / T-box 3ENSG0000013511132
TBX5 / Q99593 / T-box 5ENSG0000008922531
TBX4 / P57082 / T-box 4ENSG0000012107530
TBX10 / O75333 / T-box 10ENSG0000016780030
TBX6 / O95947 / T-box 6ENSG0000014992226


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 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 IEA
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IEA
 biological_processGO:0001706 endoderm formation ISS
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0003143 embryonic heart tube morphogenesis IEA
 biological_processGO:0003148 outflow tract septum morphogenesis IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003175 tricuspid valve development IEA
 biological_processGO:0003176 aortic valve development IEA
 biological_processGO:0003180 aortic valve morphogenesis IMP
 biological_processGO:0003193 pulmonary valve formation IEA
 biological_processGO:0003203 endocardial cushion morphogenesis IEA
 biological_processGO:0003207 cardiac chamber formation IEA
 biological_processGO:0003215 cardiac right ventricle morphogenesis IEA
 biological_processGO:0003272 endocardial cushion formation IEA
 biological_processGO:0003279 cardiac septum development IEA
 biological_processGO:0003344 pericardium morphogenesis IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006936 muscle contraction IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008015 blood circulation IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0009953 dorsal/ventral pattern formation IEA
 biological_processGO:0010991 negative regulation of SMAD protein complex assembly IEA
 biological_processGO:0021524 visceral motor neuron differentiation IEA
 biological_processGO:0035050 embryonic heart tube development IEA
 biological_processGO:0035922 foramen ovale closure IMP
 biological_processGO:0036306 embryonic heart tube elongation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048370 lateral mesoderm formation ISS
 biological_processGO:0055008 cardiac muscle tissue morphogenesis IEA
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060413 atrial septum morphogenesis IMP
 biological_processGO:0060577 pulmonary vein morphogenesis IMP
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IEA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA


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:0001655 Patent foramen ovale 
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 HP:0001680 Coarctation of aorta "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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