UniProtKB - Q9UMR3 (TBX20_HUMAN)
Protein
T-box transcription factor TBX20
Gene
TBX20
Organism
Homo sapiens (Human)
Status
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
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL
- 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-UCL
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- aortic valve morphogenesis Source: BHF-UCL
- atrial septum morphogenesis Source: BHF-UCL
- 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
- 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-UCL
- 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
- 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_Central
- pulmonary valve formation Source: BHF-UCL
- pulmonary vein morphogenesis Source: BHF-UCL
- tricuspid valve development Source: BHF-UCL
- vasculogenesis Source: GO_Central
- visceral motor neuron differentiation Source: BHF-UCL
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9UMR3 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TBX20Short name: T-box protein 20 |
Gene namesi | Name:TBX20 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000164532.10 |
HGNCi | HGNC:11598, TBX20 |
MIMi | 606061, gene |
neXtProti | NX_Q9UMR3 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: BHF-UCL
Other locations
- cytoplasm Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature 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 |
Keywords - Diseasei
Atrial septal defect, Cardiomyopathy, Disease mutationOrganism-specific databases
DisGeNETi | 57057 |
MalaCardsi | TBX20 |
MIMi | 611363, phenotype |
OpenTargetsi | ENSG00000164532 |
Orphaneti | 99103, Atrial septal defect, ostium secundum type |
PharmGKBi | PA36361 |
Miscellaneous databases
Pharosi | Q9UMR3, Tbio |
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
MassIVEi | Q9UMR3 |
PaxDbi | Q9UMR3 |
PeptideAtlasi | Q9UMR3 |
PRIDEi | Q9UMR3 |
ProteomicsDBi | 85197 |
PTM databases
iPTMneti | Q9UMR3 |
PhosphoSitePlusi | Q9UMR3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000164532, Expressed in heart and 41 other tissues |
Genevisiblei | Q9UMR3, HS |
Organism-specific databases
HPAi | ENSG00000164532, Tissue enhanced (gallbladder, heart muscle, prostate, smooth muscle, urinary bladder) |
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
BioGRIDi | 121349, 10 interactors |
CORUMi | Q9UMR3 |
IntActi | Q9UMR3, 7 interactors |
STRINGi | 9606.ENSP00000386170 |
Miscellaneous databases
RNActi | Q9UMR3, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 71 – 79 | Poly-Ser | 9 |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000158741 |
HOGENOMi | CLU_014430_7_1_1 |
InParanoidi | Q9UMR3 |
OMAi | KEPSENT |
OrthoDBi | 828211at2759 |
PhylomeDBi | Q9UMR3 |
TreeFami | TF106341 |
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 |
i Sequence
Sequence statusi: Complete.
Q9UMR3-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAD21787 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAI20946 differs from that shown. Reason: Frameshift.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 |
CCDSi | CCDS43568.1 |
RefSeqi | NP_001071121.1, NM_001077653.2 NP_001159692.1, NM_001166220.1 |
Genome annotation databases
Ensembli | ENST00000408931; ENSP00000386170; ENSG00000164532 |
GeneIDi | 57057 |
KEGGi | hsa:57057 |
UCSCi | uc011kas.3, human |
Similar proteinsi
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 |
3D structure databases
SMRi | Q9UMR3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121349, 10 interactors |
CORUMi | Q9UMR3 |
IntActi | Q9UMR3, 7 interactors |
STRINGi | 9606.ENSP00000386170 |
PTM databases
iPTMneti | Q9UMR3 |
PhosphoSitePlusi | Q9UMR3 |
Polymorphism and mutation databases
BioMutai | TBX20 |
DMDMi | 334302934 |
Proteomic databases
MassIVEi | Q9UMR3 |
PaxDbi | Q9UMR3 |
PeptideAtlasi | Q9UMR3 |
PRIDEi | Q9UMR3 |
ProteomicsDBi | 85197 |
Protocols and materials databases
Antibodypediai | 1814, 136 antibodies |
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 |
HPAi | ENSG00000164532, Tissue enhanced (gallbladder, heart muscle, prostate, smooth muscle, urinary bladder) |
MalaCardsi | TBX20 |
MIMi | 606061, gene 611363, phenotype |
neXtProti | NX_Q9UMR3 |
OpenTargetsi | ENSG00000164532 |
Orphaneti | 99103, Atrial septal defect, ostium secundum type |
PharmGKBi | PA36361 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000158741 |
HOGENOMi | CLU_014430_7_1_1 |
InParanoidi | Q9UMR3 |
OMAi | KEPSENT |
OrthoDBi | 828211at2759 |
PhylomeDBi | Q9UMR3 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | Q9UMR3 |
Miscellaneous databases
BioGRID-ORCSi | 57057, 1 hit in 866 CRISPR screens |
GenomeRNAii | 57057 |
Pharosi | Q9UMR3, Tbio |
PROi | PR:Q9UMR3 |
RNActi | Q9UMR3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164532, Expressed in heart and 41 other tissues |
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... |
MobiDBi | Search... |
Entry informationi
Entry namei | TBX20_HUMAN | |
Accessioni | Q9UMR3Primary (citable) accession number: Q9UMR3 Secondary accession number(s): A4D1Y6 Q9Y2N5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | May 31, 2011 | |
Last modified: | December 2, 2020 | |
This is version 167 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
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations