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Protein

T-box transcription factor TBX20

Gene

TBX20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi109 – 288T-boxPROSITE-ProRule annotationAdd BLAST180

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX20
Short name:
T-box protein 20
Gene namesi
Name:TBX20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000164532.10
HGNCiHGNC:11598 TBX20
MIMi606061 gene
neXtProtiNX_Q9UMR3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
See also OMIM:611363
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073144121I → 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_036995152I → 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 mutation

Organism-specific databases

DisGeNETi57057
MalaCardsiTBX20
MIMi611363 phenotype
OpenTargetsiENSG00000164532
Orphaneti99103 Atrial septal defect, ostium secundum type
PharmGKBiPA36361

Polymorphism and mutation databases

BioMutaiTBX20
DMDMi334302934

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844511 – 447T-box transcription factor TBX20Add BLAST447

Proteomic databases

PaxDbiQ9UMR3
PeptideAtlasiQ9UMR3
PRIDEiQ9UMR3
ProteomicsDBi85197

PTM databases

iPTMnetiQ9UMR3
PhosphoSitePlusiQ9UMR3

Expressioni

Gene expression databases

BgeeiENSG00000164532 Expressed in 33 organ(s), highest expression level in heart
CleanExiHS_TBX20
GenevisibleiQ9UMR3 HS

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121349, 9 interactors
CORUMiQ9UMR3
STRINGi9606.ENSP00000386170

Structurei

3D structure databases

ProteinModelPortaliQ9UMR3
SMRiQ9UMR3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi71 – 79Poly-Ser9

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG067710
InParanoidiQ9UMR3
KOiK10185
OMAiTVMTPFV
OrthoDBiEOG091G0I8R
PhylomeDBiQ9UMR3
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView 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]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073144121I → 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_036995152I → 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
CCDSiCCDS43568.1
RefSeqiNP_001071121.1, NM_001077653.2
NP_001159692.1, NM_001166220.1
UniGeneiHs.404167

Genome annotation databases

EnsembliENST00000408931; ENSP00000386170; ENSG00000164532
GeneIDi57057
KEGGihsa:57057
UCSCiuc011kas.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
CCDSiCCDS43568.1
RefSeqiNP_001071121.1, NM_001077653.2
NP_001159692.1, NM_001166220.1
UniGeneiHs.404167

3D structure databases

ProteinModelPortaliQ9UMR3
SMRiQ9UMR3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121349, 9 interactors
CORUMiQ9UMR3
STRINGi9606.ENSP00000386170

PTM databases

iPTMnetiQ9UMR3
PhosphoSitePlusiQ9UMR3

Polymorphism and mutation databases

BioMutaiTBX20
DMDMi334302934

Proteomic databases

PaxDbiQ9UMR3
PeptideAtlasiQ9UMR3
PRIDEiQ9UMR3
ProteomicsDBi85197

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000408931; ENSP00000386170; ENSG00000164532
GeneIDi57057
KEGGihsa:57057
UCSCiuc011kas.3 human

Organism-specific databases

CTDi57057
DisGeNETi57057
EuPathDBiHostDB:ENSG00000164532.10
GeneCardsiTBX20
HGNCiHGNC:11598 TBX20
MalaCardsiTBX20
MIMi606061 gene
611363 phenotype
neXtProtiNX_Q9UMR3
OpenTargetsiENSG00000164532
Orphaneti99103 Atrial septal defect, ostium secundum type
PharmGKBiPA36361
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG067710
InParanoidiQ9UMR3
KOiK10185
OMAiTVMTPFV
OrthoDBiEOG091G0I8R
PhylomeDBiQ9UMR3
TreeFamiTF106341

Miscellaneous databases

GenomeRNAii57057
PROiPR:Q9UMR3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164532 Expressed in 33 organ(s), highest expression level in heart
CleanExiHS_TBX20
GenevisibleiQ9UMR3 HS

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBX20_HUMAN
AccessioniPrimary (citable) accession number: Q9UMR3
Secondary accession number(s): A4D1Y6
, Q000T4, Q0IJ70, Q0VAS1, Q9Y2N5
Entry historyiIntegrated 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

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