Entity Details

Primary name TBX20_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UMR3
EntryNameTBX20_HUMAN
FullNameT-box transcription factor TBX20
TaxID9606
Evidenceevidence at protein level
Length447
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesTBX20

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001570 vasculogenesis
GO:0001706 endoderm formation
GO:0001708 cell fate specification
GO:0001764 neuron migration
GO:0001947 heart looping
GO:0003143 embryonic heart tube morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003171 atrioventricular valve development
GO:0003175 tricuspid valve development
GO:0003180 aortic valve morphogenesis
GO:0003193 pulmonary valve formation
GO:0003203 endocardial cushion morphogenesis
GO:0003207 cardiac chamber formation
GO:0003215 cardiac right ventricle morphogenesis
GO:0003272 endocardial cushion formation
GO:0003279 cardiac septum development
GO:0003344 pericardium morphogenesis
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006936 muscle contraction
GO:0008015 blood circulation
GO:0008283 cell population proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010991 negative regulation of SMAD protein complex assembly
GO:0014031 mesenchymal cell development
GO:0021524 visceral motor neuron differentiation
GO:0030513 positive regulation of BMP signaling pathway
GO:0035922 foramen ovale closure
GO:0036302 atrioventricular canal development
GO:0036306 embryonic heart tube elongation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048370 lateral mesoderm formation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060413 atrial septum morphogenesis
GO:0060577 pulmonary vein morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
611363 OMIMAtrial septal defect 4 (ASD4)A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TBX20_HUMANZSCA1_HUMANBioGRID, IntAct20211142 details