TBX20

Functionⁱ

Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.By similarity

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	109 – 288	T-boxPROSITE-ProRule annotationAdd BLAST		180

GO - Molecular functionⁱ

RNA polymerase II activating transcription factor binding Source: BHF-UCL
RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
RNA polymerase II regulatory region sequence-specific DNA binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 19762328
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
RNA polymerase II transcription factor binding Source: BHF-UCL
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
transcription coactivator activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 19762328

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aortic valve morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18275040
- 18834961
atrial septum morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
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 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-UCL
Inferred from mutant phenotypeⁱ
- 19762328
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-UCL
Inferred from mutant phenotypeⁱ
- 18275040
- 18834961
pericardium morphogenesis Source: BHF-UCL
positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
pulmonary valve formation Source: BHF-UCL
pulmonary vein morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18834961
tricuspid valve development Source: BHF-UCL
visceral motor neuron differentiation Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: T-box transcription factor TBX20 Short name: T-box protein 20
Gene namesⁱ	Name:TBX20
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000164532.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11598 TBX20
MIMⁱ	606061 gene
neXtProtⁱ	NX_Q9UMR3

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Atrial septal defect 4 (ASD4)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Keywords - Diseaseⁱ

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	57057
MalaCards human disease database More...MalaCardsⁱ	TBX20
MIMⁱ	611363 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000164532
Orphanetⁱ	99103 Atrial septal defect, ostium secundum type
PharmGKBⁱ	PA36361

Polymorphism and mutation databases

BioMutaⁱ	TBX20
DMDMⁱ	334302934

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000184451	1 – 447	T-box transcription factor TBX20Add BLAST		447

Proteomic databases

PaxDbⁱ	Q9UMR3
PeptideAtlas More...PeptideAtlasⁱ	Q9UMR3
PRIDEⁱ	Q9UMR3
ProteomicsDBⁱ	85197

PTM databases

iPTMnetⁱ	Q9UMR3
PhosphoSitePlusⁱ	Q9UMR3

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000164532 Expressed in 33 organ(s), highest expression level in heart
CleanExⁱ	HS_TBX20
Genevisibleⁱ	Q9UMR3 HS

Interactionⁱ

GO - Molecular functionⁱ

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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	121349, 9 interactors
CORUMⁱ	Q9UMR3
STRINGⁱ	9606.ENSP00000386170

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9UMR3
SMRⁱ	Q9UMR3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	71 – 79	Poly-Ser		9

Phylogenomic databases

eggNOGⁱ	KOG3586 Eukaryota ENOG410Y98J LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000286000
HOVERGENⁱ	HBG067710
InParanoidⁱ	Q9UMR3
KEGG Orthology (KO) More...KOⁱ	K10185
OMAⁱ	TVMTPFV
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	Q9UMR3
TreeFamⁱ	TF106341

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9UMR3-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:447

Mass (Da):49,232

Last modified:May 31, 2011 - v4

Checksum:ⁱA6B43488373D81D1

GO

Sequence cautionⁱ

The sequence AAD21787 differs from that shown. Reason: Erroneous gene model prediction.Curated

The sequence AAI20946 differs from that shown. Intron retention.Curated

The sequence AAI20946 differs from that shown. Reason: Frameshift at position 294.Curated

The sequence AAI20947 differs from that shown. Intron retention.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_073144	121	I → M in ASD4; significant gain of function in sequence-specific DNA binding transcription factor activity; gain of function in sequence-specific DNA binding transcription factor activity in the presence of cotranscription factors NKX2-5 and GATA4 or GATA5. 1 PublicationCorresponds to variant dbSNP:rs267607106EnsemblClinVar.		1
Natural variantⁱVAR_036995	152	I → M in ASD4; gain of function in sequence-specific DNA binding transcription factor activity; gain of function in sequence-specific DNA binding transcription factor activity in the presence of cotranscription factors NKX2-5 and GATA4 or GATA5. 2 PublicationsCorresponds to variant dbSNP:rs137852954EnsemblClinVar.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	DQ986374 mRNA Translation: ABJ15760.1 HM015599 Genomic DNA Translation: ADL14520.1 AC005826 Genomic DNA No translation available. AC009531 Genomic DNA No translation available. AC006379 Genomic DNA Translation: AAD21787.1 Sequence problems. CH236951 Genomic DNA Translation: EAL23971.1 BC120945 mRNA Translation: AAI20946.1 Sequence problems. BC120946 mRNA Translation: AAI20947.1 Sequence problems. AJ237589 mRNA Translation: CAB51916.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43568.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001071121.1, NM_001077653.2 NP_001159692.1, NM_001166220.1
UniGeneⁱ	Hs.404167

Genome annotation databases

Ensemblⁱ	ENST00000408931; ENSP00000386170; ENSG00000164532
GeneIDⁱ	57057
KEGGⁱ	hsa:57057
UCSC genome browser More...UCSCⁱ	uc011kas.3 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9UMR3	T-box 20		PANTR		447	UniRef100_Q9UMR3
UPI0007DC7BFA		HUMAN		248

Protein	Similar proteins		Species	Score	Length	Source
Q9UMR3	T-box transcription factor TBX20		MOUSE		445	UniRef90_Q9ES03
T-box 20 isoform a isoform 1-like protein		CAMFR		461
Uncharacterized protein		MONDO		456
Uncharacterized protein (Fragment)		AILME		451
Uncharacterized protein		SARHA		451
+108

Protein	Similar proteins		Species	Score	Length	Source
Q9UMR3	T-box transcription factor TBX20		MOUSE		445	UniRef50_Q9ES03
T-box 20 isoform a isoform 1-like protein		CAMFR		461
Uncharacterized protein		MONDO		456
Uncharacterized protein (Fragment)		AILME		451
Uncharacterized protein		SARHA		451
+115

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	DQ986374 mRNA Translation: ABJ15760.1 HM015599 Genomic DNA Translation: ADL14520.1 AC005826 Genomic DNA No translation available. AC009531 Genomic DNA No translation available. AC006379 Genomic DNA Translation: AAD21787.1 Sequence problems. CH236951 Genomic DNA Translation: EAL23971.1 BC120945 mRNA Translation: AAI20946.1 Sequence problems. BC120946 mRNA Translation: AAI20947.1 Sequence problems. AJ237589 mRNA Translation: CAB51916.1
CCDSⁱ	CCDS43568.1
RefSeqⁱ	NP_001071121.1, NM_001077653.2 NP_001159692.1, NM_001166220.1
UniGeneⁱ	Hs.404167

3D structure databases

ProteinModelPortalⁱ	Q9UMR3
SMRⁱ	Q9UMR3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	121349, 9 interactors
CORUMⁱ	Q9UMR3
STRINGⁱ	9606.ENSP00000386170

PTM databases

iPTMnetⁱ	Q9UMR3
PhosphoSitePlusⁱ	Q9UMR3

Polymorphism and mutation databases

BioMutaⁱ	TBX20
DMDMⁱ	334302934

Proteomic databases

PaxDbⁱ	Q9UMR3
PeptideAtlasⁱ	Q9UMR3
PRIDEⁱ	Q9UMR3
ProteomicsDBⁱ	85197

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000408931; ENSP00000386170; ENSG00000164532
GeneIDⁱ	57057
KEGGⁱ	hsa:57057
UCSCⁱ	uc011kas.3 human

Organism-specific databases

CTDⁱ	57057
DisGeNETⁱ	57057
EuPathDBⁱ	HostDB:ENSG00000164532.10
GeneCardsⁱ	TBX20
HGNCⁱ	HGNC:11598 TBX20
MalaCardsⁱ	TBX20
MIMⁱ	606061 gene 611363 phenotype
neXtProtⁱ	NX_Q9UMR3
OpenTargetsⁱ	ENSG00000164532
Orphanetⁱ	99103 Atrial septal defect, ostium secundum type
PharmGKBⁱ	PA36361
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3586 Eukaryota ENOG410Y98J LUCA
GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000286000
HOVERGENⁱ	HBG067710
InParanoidⁱ	Q9UMR3
KOⁱ	K10185
OMAⁱ	TVMTPFV
OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	Q9UMR3
TreeFamⁱ	TF106341

Miscellaneous databases

GenomeRNAiⁱ	57057
Protein Ontology More...PROⁱ	PR:Q9UMR3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000164532 Expressed in 33 organ(s), highest expression level in heart
CleanExⁱ	HS_TBX20
Genevisibleⁱ	Q9UMR3 HS

Family and domain databases

CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TBX20_HUMAN
Accessionⁱ	Q9UMR3Primary (citable) accession number: Q9UMR3 Secondary accession number(s): A4D1Y6 , Q000T4, Q0IJ70, Q0VAS1, Q9Y2N5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
	Last sequence update:	May 31, 2011
	Last modified:	September 12, 2018
	This is version 152 of the entry and version 4 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9UMR3 (TBX20_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

T-box transcription factor TBX20

Select a section on the left to see content.

<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

GO - Biological processi

<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

Nucleus

Nucleus

Other locations

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

Keywords - Diseasei

Organism-specific 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

<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

Protein-protein interaction 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 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 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

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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ