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Q13207

- TBX2_HUMAN

UniProt

Q13207 - TBX2_HUMAN

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Protein

T-box transcription factor TBX2

Gene

TBX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi109 – 287179T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. sequence-specific DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. aorta morphogenesis Source: BHF-UCL
  2. atrioventricular canal development Source: BHF-UCL
  3. cardiac muscle tissue development Source: BHF-UCL
  4. cell aging Source: UniProtKB
  5. cellular senescence Source: UniProtKB
  6. developmental growth involved in morphogenesis Source: Ensembl
  7. embryonic camera-type eye morphogenesis Source: BHF-UCL
  8. embryonic digit morphogenesis Source: BHF-UCL
  9. endocardial cushion morphogenesis Source: BHF-UCL
  10. mammary placode formation Source: Ensembl
  11. muscle cell fate determination Source: BHF-UCL
  12. negative regulation of cardiac chamber formation Source: BHF-UCL
  13. negative regulation of heart looping Source: BHF-UCL
  14. negative regulation of transcription, DNA-templated Source: UniProtKB
  15. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  16. outflow tract morphogenesis Source: BHF-UCL
  17. outflow tract septum morphogenesis Source: BHF-UCL
  18. palate development Source: Ensembl
  19. pharynx development Source: BHF-UCL
  20. positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
  21. positive regulation of cell proliferation Source: UniProtKB
  22. regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Source: BHF-UCL
  23. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ13207.

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX2
Short name:
T-box protein 2
Gene namesi
Name:TBX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:11597. TBX2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: BHF-UCL
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKBiPA36360.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 712712T-box transcription factor TBX2PRO_0000184426Add
BLAST

Proteomic databases

MaxQBiQ13207.
PaxDbiQ13207.
PRIDEiQ13207.

PTM databases

PhosphoSiteiQ13207.

Expressioni

Tissue specificityi

Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.

Gene expression databases

BgeeiQ13207.
CleanExiHS_TBX2.
ExpressionAtlasiQ13207. baseline and differential.
GenevestigatoriQ13207.

Organism-specific databases

HPAiCAB013636.
HPA008586.

Interactioni

Subunit structurei

Interacts with PML (isoform-PML-2, isoform PML-3 and isoform PML-4).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PMLP295902EBI-2853051,EBI-295890

Protein-protein interaction databases

BioGridi112772. 4 interactions.
IntActiQ13207. 4 interactions.
MINTiMINT-6773947.
STRINGi9606.ENSP00000240328.

Structurei

3D structure databases

ProteinModelPortaliQ13207.
SMRiQ13207. Positions 102-287.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni518 – 60184Repression domain 1 (RD1)Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi28 – 8760Ala-richAdd
BLAST
Compositional biasi461 – 53878Gly-richAdd
BLAST
Compositional biasi581 – 60323Ala-richAdd
BLAST

Domaini

The repression domain 1 (RD1) is necessary for its interaction with PML.1 Publication

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG240293.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000038046.
HOVERGENiHBG000412.
InParanoidiQ13207.
KOiK10176.
OMAiSPAPEHH.
OrthoDBiEOG7W9RV1.
PhylomeDBiQ13207.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR022582. TBX.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
PF12598. TBX. 1 hit.
[Graphical view]
PRINTSiPR00938. BRACHYURY.
PR00937. 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.

Q13207-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK
60 70 80 90 100
PLPDPGLAGA AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE
110 120 130 140 150
VEDDPKVTLE AKELWDQFHK LGTEMVITKS GRRMFPPFKV RVSGLDKKAK
160 170 180 190 200
YILLMDIVAA DDCRYKFHNS RWMVAGKADP EMPKRMYIHP DSPATGEQWM
210 220 230 240 250
AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN DILKLPYSTF
260 270 280 290 300
RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT
310 320 330 340 350
LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR
360 370 380 390 400
AEEKSCAADS DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR
410 420 430 440 450
SPERGKEPAE SGGDGPFGLR SLEKERAEAR RKDEGRKEAA EGKEQGLAPL
460 470 480 490 500
VVQTDSASPL GAGHLPGLAF SSHLHGQQFF GPLGAGQPLF LHPGQFTMGP
510 520 530 540 550
GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA ASAASTAAPF
560 570 580 590 600
PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA
610 620 630 640 650
AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG
660 670 680 690 700
GNSREPSPLP ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES
710
QRALSPGRES PK
Length:712
Mass (Da):75,066
Last modified:April 20, 2010 - v3
Checksum:i5C890DFC10FC3B68
GO

Sequence cautioni

The sequence AAA73861.1 differs from that shown. Reason: Frameshift at position 4.
The sequence AAH52566.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71A → T in AAA73861. (PubMed:8530034)Curated
Sequence conflicti165 – 1651Y → D in AAB36216. (PubMed:8597636)Curated
Sequence conflicti175 – 1784AGKA → TDKT in AAB36216. (PubMed:8597636)Curated
Sequence conflicti373 – 3731G → R in AAA73861. (PubMed:8530034)Curated
Sequence conflicti401 – 4011S → C in AAA73861. (PubMed:8530034)Curated
Sequence conflicti427 – 4271A → P in AAA73861. (PubMed:8530034)Curated
Sequence conflicti689 – 6891Q → L in AAA73861. (PubMed:8530034)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U28049 mRNA. Translation: AAA73861.1. Frameshift.
AC005746 Genomic DNA. No translation available.
BC052566 mRNA. Translation: AAH52566.1. Different initiation.
S81264 mRNA. Translation: AAB36216.1.
CCDSiCCDS11627.2.
PIRiG01840.
RefSeqiNP_005985.3. NM_005994.3.
UniGeneiHs.531085.

Genome annotation databases

EnsembliENST00000240328; ENSP00000240328; ENSG00000121068.
GeneIDi6909.
KEGGihsa:6909.
UCSCiuc002izg.3. human.

Polymorphism databases

DMDMi294862490.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U28049 mRNA. Translation: AAA73861.1 . Frameshift.
AC005746 Genomic DNA. No translation available.
BC052566 mRNA. Translation: AAH52566.1 . Different initiation.
S81264 mRNA. Translation: AAB36216.1 .
CCDSi CCDS11627.2.
PIRi G01840.
RefSeqi NP_005985.3. NM_005994.3.
UniGenei Hs.531085.

3D structure databases

ProteinModelPortali Q13207.
SMRi Q13207. Positions 102-287.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112772. 4 interactions.
IntActi Q13207. 4 interactions.
MINTi MINT-6773947.
STRINGi 9606.ENSP00000240328.

PTM databases

PhosphoSitei Q13207.

Polymorphism databases

DMDMi 294862490.

Proteomic databases

MaxQBi Q13207.
PaxDbi Q13207.
PRIDEi Q13207.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000240328 ; ENSP00000240328 ; ENSG00000121068 .
GeneIDi 6909.
KEGGi hsa:6909.
UCSCi uc002izg.3. human.

Organism-specific databases

CTDi 6909.
GeneCardsi GC17P059477.
HGNCi HGNC:11597. TBX2.
HPAi CAB013636.
HPA008586.
MIMi 600747. gene.
neXtProti NX_Q13207.
Orphaneti 261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKBi PA36360.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240293.
GeneTreei ENSGT00760000118897.
HOGENOMi HOG000038046.
HOVERGENi HBG000412.
InParanoidi Q13207.
KOi K10176.
OMAi SPAPEHH.
OrthoDBi EOG7W9RV1.
PhylomeDBi Q13207.
TreeFami TF106341.

Enzyme and pathway databases

SignaLinki Q13207.

Miscellaneous databases

GeneWikii TBX2.
GenomeRNAii 6909.
NextBioi 27019.
PROi Q13207.
SOURCEi Search...

Gene expression databases

Bgeei Q13207.
CleanExi HS_TBX2.
ExpressionAtlasi Q13207. baseline and differential.
Genevestigatori Q13207.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR022582. TBX.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
PF12598. TBX. 1 hit.
[Graphical view ]
PRINTSi PR00938. BRACHYURY.
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. "Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene."
    Campbell C., Goodrich K., Casey G., Beatty B.
    Genomics 28:255-260(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal kidney.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
    Tissue: Brain.
  4. "Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family."
    Law D.J., Gebuhr T., Garvey N., Agulnik S.I., Silver L.M.
    Mamm. Genome 6:793-797(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 162-255.
    Tissue: Fetal kidney.
  5. "Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence."
    Martin N., Benhamed M., Nacerddine K., Demarque M.D., van Lohuizen M., Dejean A., Bischof O.
    EMBO J. 31:95-109(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH PML, DOMAIN RD1.

Entry informationi

Entry nameiTBX2_HUMAN
AccessioniPrimary (citable) accession number: Q13207
Secondary accession number(s): Q16424, Q7Z647
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 20, 2010
Last modified: October 29, 2014
This is version 130 of the entry and version 3 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3