T-box transcription factor TBX20

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.8

    "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects."
    Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A., Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.
    J. Med. Genet. 47:230-235(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ASD4 MET-121 AND MET-152, CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND MET-152.
• RNA polymerase II activating transcription factor binding Source: BHF-UCL
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: Ensembl
• RNA polymerase II transcription factor binding Source: BHF-UCL
• RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: BHF-UCLInferred from direct assayⁱ
  • Ref.8

    "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects."
    Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A., Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.
    J. Med. Genet. 47:230-235(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ASD4 MET-121 AND MET-152, CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND MET-152.
• sequence-specific double-stranded DNA binding Source: ARUK-UCLInferred from direct assayⁱ
  • "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
    Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
    Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• aortic valve morphogenesis Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Characterization of TBX20 in human hearts and its regulation by TFAP2."
    Hammer S., Toenjes M., Lange M., Fischer J.J., Dunkel I., Mebus S., Grimm C.H., Hetzer R., Berger F., Sperling S.
    J Cell Biochem 104:1022-1033(2008) [PubMed] [Europe PMC] [Abstract]
  • "T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease."
    Liu C., Shen A., Li X., Jiao W., Zhang X., Li Z.
    Eur J Med Genet 51:580-587(2008) [PubMed] [Europe PMC] [Abstract]
• atrial septum morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.7

    "Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy."
    Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O., Castro M.L., Butler T.L., Hyun C., Guo G., Otway R., Mackay J.P., Waddell L.B., Cole A.D., Hayward C., Keogh A., Macdonald P., Griffiths L., Fatkin D.

    , Sholler G.F., Zorn A.M., Feneley M.P., Winlaw D.S., Harvey R.P.
    Am. J. Hum. Genet. 81:280-291(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT ASD4 MET-152.
  • "T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease."
    Liu C., Shen A., Li X., Jiao W., Zhang X., Li Z.
    Eur J Med Genet 51:580-587(2008) [PubMed] [Europe PMC] [Abstract]
  • Ref.8

    "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects."
    Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A., Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.
    J. Med. Genet. 47:230-235(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ASD4 MET-121 AND MET-152, CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND MET-152.
• blood circulation Source: Ensembl
• branching involved in blood vessel morphogenesis Source: Ensembl
• cardiac chamber formation Source: BHF-UCL
• cardiac muscle tissue morphogenesis Source: BHF-UCL
• cardiac right ventricle morphogenesis Source: BHF-UCL
• cardiac septum development Source: BHF-UCL
• cell fate specification Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell population proliferation Source: Ensembl
• dorsal/ventral pattern formation Source: BHF-UCL
• embryonic heart tube elongation Source: Ensembl
• embryonic heart tube morphogenesis Source: BHF-UCL
• endocardial cushion formation Source: BHF-UCL
• endocardial cushion morphogenesis Source: BHF-UCL
• endoderm formation Source: BHF-UCL
• foramen ovale closure Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.8

    "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects."
    Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A., Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.
    J. Med. Genet. 47:230-235(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ASD4 MET-121 AND MET-152, CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND MET-152.
• heart looping Source: BHF-UCL
• lateral mesoderm formation Source: BHF-UCL
• muscle contraction Source: Ensembl
• negative regulation of SMAD protein complex assembly Source: Ensembl
• negative regulation of transcription, DNA-templated Source: BHF-UCL
• negative regulation of transcription by RNA polymerase II Source: BHF-UCL
• neuron migration Source: Ensembl
• outflow tract septum morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Characterization of TBX20 in human hearts and its regulation by TFAP2."
    Hammer S., Toenjes M., Lange M., Fischer J.J., Dunkel I., Mebus S., Grimm C.H., Hetzer R., Berger F., Sperling S.
    J Cell Biochem 104:1022-1033(2008) [PubMed] [Europe PMC] [Abstract]
  • "T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease."
    Liu C., Shen A., Li X., Jiao W., Zhang X., Li Z.
    Eur J Med Genet 51:580-587(2008) [PubMed] [Europe PMC] [Abstract]
• pericardium morphogenesis Source: BHF-UCL
• positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
• positive regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• pulmonary valve formation Source: BHF-UCL
• pulmonary vein morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease."
    Liu C., Shen A., Li X., Jiao W., Zhang X., Li Z.
    Eur J Med Genet 51:580-587(2008) [PubMed] [Europe PMC] [Abstract]
• tricuspid valve development Source: BHF-UCL
• vasculogenesis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• visceral motor neuron differentiation Source: BHF-UCL

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

GO - Molecular functionⁱ

• RNA polymerase II activating transcription factor binding Source: BHF-UCL
• RNA polymerase II transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS 
        60         70         80         90        100
CAQPLGELTS LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI 
       110        120        130        140        150
ACSLETKELW DKFHELGTEM IITKSGRRMF PTIRVSFSGV DPEAKYIVLM 
       160        170        180        190        200
DIVPVDNKRY RYAYHRSSWL VAGKADPPLP ARLYVHPDSP FTGEQLLKQM 
       210        220        230        240        250
VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT ASLLNLKSEE 
       260        270        280        290        300
FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV 
       310        320        330        340        350
ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV 
       360        370        380        390        400
SSSSSFPGFQ HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS 
       410        420        430        440 
AIASSMQGSG PTFPSFHMPR YHHYFQQGPY AAIQGLRHSS AVMTPFV    

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human chromosome 7
   Human chromosome 7: entries, gene names and cross-references to MIM
2. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
3. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
4. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations