• Gene id: 57057

Gene Summary

• Gene Symbol: TBX20   Gene   UCSC   Ensembl
• Aliases: ASD4
• Gene name: T-box transcription factor 20
• Alternate names: T-box transcription factor TBX20, T-box 20, T-box protein 20,
• Gene location: 7p14.2 (35254099: 35199935)     Exons: 8     NC_000007.14
• Gene summary(Entrez): This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development.
• OMIM: 603821

Protein Summary

• Protein general information: Q9UMR3  
  • Name: T box transcription factor TBX20 (T box protein 20)
  • Length: 447  
  • Mass: 49232
• Sequence:

  MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSP
  SSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLM
  DIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMH
  KYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESV
  ESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASI
  ATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • STRING: ENSP00000386170
• Other Databases: GeneCards:  TBX20  Malacards:  TBX20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0001570	vasculogenesis	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003175	tricuspid valve development	IEA	biological process
GO:0003193	pulmonary valve formation	IEA	biological process
GO:0003207	cardiac chamber formation	IEA	biological process
GO:0003344	pericardium morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0021524	visceral motor neuron differentiation	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0036306	embryonic heart tube elongation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0003143	embryonic heart tube morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003176	aortic valve development	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003272	endocardial cushion formation	IEA	biological process
GO:0003279	cardiac septum development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0010991	negative regulation of SMAD protein complex assembly	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	IMP	biological process
GO:0003148	outflow tract septum morphogenesis	IMP	biological process
GO:0003175	tricuspid valve development	ISS	biological process
GO:0003193	pulmonary valve formation	ISS	biological process
GO:0003207	cardiac chamber formation	ISS	biological process
GO:0003344	pericardium morphogenesis	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0021524	visceral motor neuron differentiation	ISS	biological process
GO:0035922	foramen ovale closure	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0048370	lateral mesoderm formation	ISS	biological process
GO:0055008	cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0001706	endoderm formation	ISS	biological process
GO:0003143	embryonic heart tube morphogenesis	ISS	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0003279	cardiac septum development	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0060577	pulmonary vein morphogenesis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0001570	vasculogenesis	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003175	tricuspid valve development	IEA	biological process
GO:0003193	pulmonary valve formation	IEA	biological process
GO:0003207	cardiac chamber formation	IEA	biological process
GO:0003344	pericardium morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0021524	visceral motor neuron differentiation	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0036306	embryonic heart tube elongation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0003143	embryonic heart tube morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003176	aortic valve development	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003272	endocardial cushion formation	IEA	biological process
GO:0003279	cardiac septum development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0010991	negative regulation of SMAD protein complex assembly	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	IMP	biological process
GO:0003148	outflow tract septum morphogenesis	IMP	biological process
GO:0003175	tricuspid valve development	ISS	biological process
GO:0003193	pulmonary valve formation	ISS	biological process
GO:0003207	cardiac chamber formation	ISS	biological process
GO:0003344	pericardium morphogenesis	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0021524	visceral motor neuron differentiation	ISS	biological process
GO:0035922	foramen ovale closure	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0048370	lateral mesoderm formation	ISS	biological process
GO:0055008	cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0001706	endoderm formation	ISS	biological process
GO:0003143	embryonic heart tube morphogenesis	ISS	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0003279	cardiac septum development	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0060577	pulmonary vein morphogenesis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Atrial septal defect	KEGG:H00546
Atrial septal defect	KEGG:H00546
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881