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Q9UMR3

- TBX20_HUMAN

UniProt

Q9UMR3 - TBX20_HUMAN

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Protein

T-box transcription factor TBX20

Gene
TBX20
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi109 – 288180T-boxAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  2. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  3. RNA polymerase II transcription coactivator activity Source: BHF-UCL
  4. RNA polymerase II transcription factor binding Source: BHF-UCL
  5. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. aortic valve morphogenesis Source: BHF-UCL
  2. atrial septum morphogenesis Source: BHF-UCL
  3. blood circulation Source: Ensembl
  4. cardiac chamber formation Source: BHF-UCL
  5. cardiac muscle tissue morphogenesis Source: BHF-UCL
  6. cardiac right ventricle morphogenesis Source: BHF-UCL
  7. cardiac septum development Source: BHF-UCL
  8. cell proliferation Source: Ensembl
  9. dorsal/ventral pattern formation Source: BHF-UCL
  10. embryonic heart tube elongation Source: Ensembl
  11. embryonic heart tube morphogenesis Source: BHF-UCL
  12. endocardial cushion formation Source: BHF-UCL
  13. endocardial cushion morphogenesis Source: BHF-UCL
  14. endoderm formation Source: BHF-UCL
  15. foramen ovale closure Source: BHF-UCL
  16. heart looping Source: BHF-UCL
  17. lateral mesoderm formation Source: BHF-UCL
  18. muscle contraction Source: Ensembl
  19. negative regulation of SMAD protein complex assembly Source: Ensembl
  20. negative regulation of transcription, DNA-templated Source: BHF-UCL
  21. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  22. neuron migration Source: Ensembl
  23. outflow tract septum morphogenesis Source: BHF-UCL
  24. patterning of blood vessels Source: Ensembl
  25. pericardium morphogenesis Source: BHF-UCL
  26. positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
  27. positive regulation of transcription from RNA polymerase II promoter Source: GOC
  28. pulmonary valve formation Source: BHF-UCL
  29. pulmonary vein morphogenesis Source: BHF-UCL
  30. tricuspid valve development Source: BHF-UCL
  31. visceral motor neuron differentiation Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:11598. TBX20.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Atrial septal defect 4 (ASD4) [MIM:611363]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521I → M in ASD4. 1 Publication
VAR_036995

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi611363. phenotype.
Orphaneti99103. Atrial septal defect, ostium secundum type.
PharmGKBiPA36361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 447447T-box transcription factor TBX20PRO_0000184451Add
BLAST

Proteomic databases

PaxDbiQ9UMR3.
PRIDEiQ9UMR3.

Expressioni

Gene expression databases

ArrayExpressiQ9UMR3.
BgeeiQ9UMR3.
CleanExiHS_TBX20.
GenevestigatoriQ9UMR3.

Organism-specific databases

HPAiHPA008192.

Interactioni

Protein-protein interaction databases

BioGridi121349. 2 interactions.
STRINGi9606.ENSP00000386170.

Structurei

3D structure databases

ProteinModelPortaliQ9UMR3.
SMRiQ9UMR3. Positions 100-288.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi71 – 799Poly-Ser

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG272513.
HOGENOMiHOG000286000.
HOVERGENiHBG067710.
InParanoidiQ9UMR3.
KOiK10185.
OMAiRHSSTVM.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ9UMR3.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UMR3-1 [UniParc]FASTAAdd to Basket

« Hide

MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS    50
CAQPLGELTS LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI 100
ACSLETKELW DKFHELGTEM IITKSGRRMF PTIRVSFSGV DPEAKYIVLM 150
DIVPVDNKRY RYAYHRSSWL VAGKADPPLP ARLYVHPDSP FTGEQLLKQM 200
VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT ASLLNLKSEE 250
FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV 300
ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV 350
SSSSSFPGFQ HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS 400
AIASSMQGSG PTFPSFHMPR YHHYFQQGPY AAIQGLRHSS AVMTPFV 447
Length:447
Mass (Da):49,232
Last modified:May 31, 2011 - v4
Checksum:iA6B43488373D81D1
GO

Sequence cautioni

The sequence AAI20946.1 differs from that shown. Reason: Intron retention.
The sequence AAI20947.1 differs from that shown. Reason: Intron retention.
The sequence AAI20946.1 differs from that shown. Reason: Frameshift at position 294.
The sequence AAD21787.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521I → M in ASD4. 1 Publication
VAR_036995

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human.

Polymorphism databases

DMDMi334302934.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Positions 100-288.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121349. 2 interactions.
STRINGi 9606.ENSP00000386170.

Polymorphism databases

DMDMi 334302934.

Proteomic databases

PaxDbi Q9UMR3.
PRIDEi Q9UMR3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000408931 ; ENSP00000386170 ; ENSG00000164532 .
GeneIDi 57057.
KEGGi hsa:57057.
UCSCi uc011kas.2. human.

Organism-specific databases

CTDi 57057.
GeneCardsi GC07M035237.
HGNCi HGNC:11598. TBX20.
HPAi HPA008192.
MIMi 606061. gene.
611363. phenotype.
neXtProti NX_Q9UMR3.
Orphaneti 99103. Atrial septal defect, ostium secundum type.
PharmGKBi PA36361.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG272513.
HOGENOMi HOG000286000.
HOVERGENi HBG067710.
InParanoidi Q9UMR3.
KOi K10185.
OMAi RHSSTVM.
OrthoDBi EOG7GN2PM.
PhylomeDBi Q9UMR3.
TreeFami TF106341.

Miscellaneous databases

GenomeRNAii 57057.
NextBioi 62840.
PROi Q9UMR3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UMR3.
Bgeei Q9UMR3.
CleanExi HS_TBX20.
Genevestigatori Q9UMR3.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a new human TBX20 splice variant."
    Toenjes M., Sperling S.
    Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene."
    Meins M., Henderson D.J., Bhattacharya S.S., Sowden J.C.
    Genomics 67:317-332(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 97-296.
    Tissue: Fetal eye.
  7. "Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy."
    Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O., Castro M.L., Butler T.L., Hyun C., Guo G., Otway R., Mackay J.P., Waddell L.B., Cole A.D., Hayward C., Keogh A., Macdonald P., Griffiths L., Fatkin D.
    , Sholler G.F., Zorn A.M., Feneley M.P., Winlaw D.S., Harvey R.P.
    Am. J. Hum. Genet. 81:280-291(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD4 MET-152.

Entry informationi

Entry nameiTBX20_HUMAN
AccessioniPrimary (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: July 9, 2014
This is version 124 of the entry and version 4 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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