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Protein

T-box transcription factor TBX20

Gene

TBX20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:11598. TBX20.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211I → 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 Publication
VAR_073144
Natural varianti152 – 1521I → 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 Publications
VAR_036995

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiTBX20.
DMDMi334302934.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ9UMR3.
PaxDbiQ9UMR3.
PRIDEiQ9UMR3.

Expressioni

Gene expression databases

BgeeiQ9UMR3.
CleanExiHS_TBX20.
GenevisibleiQ9UMR3. HS.

Organism-specific databases

HPAiHPA008192.

Interactioni

Protein-protein interaction databases

BioGridi121349. 9 interactions.
STRINGi9606.ENSP00000386170.

Structurei

3D structure databases

ProteinModelPortaliQ9UMR3.
SMRiQ9UMR3. Positions 100-288.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG272513.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG067710.
InParanoidiQ9UMR3.
KOiK10185.
OMAiTVMTPFV.
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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211I → 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 Publication
VAR_073144
Natural varianti152 – 1521I → 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 Publications
VAR_036995

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.2. human.

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. Positions 100-288.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121349. 9 interactions.
STRINGi9606.ENSP00000386170.

Polymorphism and mutation databases

BioMutaiTBX20.
DMDMi334302934.

Proteomic databases

MaxQBiQ9UMR3.
PaxDbiQ9UMR3.
PRIDEiQ9UMR3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000408931; ENSP00000386170; ENSG00000164532.
GeneIDi57057.
KEGGihsa:57057.
UCSCiuc011kas.2. human.

Organism-specific databases

CTDi57057.
GeneCardsiGC07M035237.
HGNCiHGNC:11598. TBX20.
HPAiHPA008192.
MIMi606061. gene.
611363. phenotype.
neXtProtiNX_Q9UMR3.
Orphaneti99103. Atrial septal defect, ostium secundum type.
PharmGKBiPA36361.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG272513.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG067710.
InParanoidiQ9UMR3.
KOiK10185.
OMAiTVMTPFV.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ9UMR3.
TreeFamiTF106341.

Miscellaneous databases

GenomeRNAii57057.
NextBioi62840.
PROiQ9UMR3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UMR3.
CleanExiHS_TBX20.
GenevisibleiQ9UMR3. HS.

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]
ProtoNetiSearch...

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.
  8. "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects."
    Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A., Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.
    J. Med. Genet. 47:230-235(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASD4 MET-121 AND MET-152, CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND 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: June 24, 2015
This is version 131 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.