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Q13207 (TBX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX2

Short name=T-box protein 2
Gene names
Name:TBX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length712 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subunit structure

Interacts with PML (isoform-PML-2, isoform PML-3and isoform PML-4) Ref.5

Subcellular location

Nucleus Potential.

Tissue specificity

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

Domain

The repression domain 1 (RD1) is necessary for its interaction with PML (Ref.5). Ref.5

Sequence similarities

Contains 1 T-box DNA-binding domain.

Sequence caution

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.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaorta morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

atrioventricular canal development

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac muscle tissue development

Inferred from sequence or structural similarity. Source: BHF-UCL

cell aging

Inferred from direct assay PubMed 11748239. Source: UniProtKB

cellular senescence

Inferred from direct assay Ref.5. Source: UniProtKB

developmental growth involved in morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic camera-type eye morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic digit morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cushion morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

mammary placode formation

Inferred from electronic annotation. Source: Ensembl

muscle cell fate determination

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of cardiac chamber formation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of heart looping

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 10468588PubMed 11111039. Source: UniProtKB

outflow tract morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

outflow tract septum morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

palate development

Inferred from electronic annotation. Source: Ensembl

pharynx development

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of cardiac muscle cell proliferation

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of cell proliferation

Inferred from direct assay PubMed 11748239. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from direct assay PubMed 15042700. Source: BHF-UCL

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Traceable author statement Ref.1. Source: ProtInc

protein binding

Inferred from physical interaction Ref.5. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay PubMed 11111039. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PMLP295902EBI-2853051,EBI-295890

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 712712T-box transcription factor TBX2
PRO_0000184426

Regions

DNA binding109 – 287179T-box
Region518 – 60184Repression domain 1 (RD1)
Compositional bias28 – 8760Ala-rich
Compositional bias461 – 53878Gly-rich
Compositional bias581 – 60323Ala-rich

Experimental info

Sequence conflict71A → T in AAA73861. Ref.1
Sequence conflict1651Y → D in AAB36216. Ref.4
Sequence conflict175 – 1784AGKA → TDKT in AAB36216. Ref.4
Sequence conflict3731G → R in AAA73861. Ref.1
Sequence conflict4011S → C in AAA73861. Ref.1
Sequence conflict4271A → P in AAA73861. Ref.1
Sequence conflict6891Q → L in AAA73861. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q13207 [UniParc].

Last modified April 20, 2010. Version 3.
Checksum: 5C890DFC10FC3B68

FASTA71275,066
        10         20         30         40         50         60 
MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK PLPDPGLAGA 

        70         80         90        100        110        120 
AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE VEDDPKVTLE AKELWDQFHK 

       130        140        150        160        170        180 
LGTEMVITKS GRRMFPPFKV RVSGLDKKAK YILLMDIVAA DDCRYKFHNS RWMVAGKADP 

       190        200        210        220        230        240 
EMPKRMYIHP DSPATGEQWM AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN 

       250        260        270        280        290        300 
DILKLPYSTF RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 

       310        320        330        340        350        360 
LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR AEEKSCAADS 

       370        380        390        400        410        420 
DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR SPERGKEPAE SGGDGPFGLR 

       430        440        450        460        470        480 
SLEKERAEAR RKDEGRKEAA EGKEQGLAPL VVQTDSASPL GAGHLPGLAF SSHLHGQQFF 

       490        500        510        520        530        540 
GPLGAGQPLF LHPGQFTMGP GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA 

       550        560        570        580        590        600 
ASAASTAAPF PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA 

       610        620        630        640        650        660 
AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG GNSREPSPLP 

       670        680        690        700        710 
ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES QRALSPGRES PK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U28049 mRNA. Translation: AAA73861.1. Frameshift.
AC005746 Genomic DNA. No translation available.
BC052566 mRNA. Translation: AAH52566.1. Different initiation.
S81264 mRNA. Translation: AAB36216.1.
CCDSCCDS11627.2.
PIRG01840.
RefSeqNP_005985.3. NM_005994.3.
UniGeneHs.531085.

3D structure databases

ProteinModelPortalQ13207.
SMRQ13207. Positions 102-287.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112772. 4 interactions.
IntActQ13207. 4 interactions.
MINTMINT-6773947.
STRING9606.ENSP00000240328.

PTM databases

PhosphoSiteQ13207.

Polymorphism databases

DMDM294862490.

Proteomic databases

MaxQBQ13207.
PaxDbQ13207.
PRIDEQ13207.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240328; ENSP00000240328; ENSG00000121068.
GeneID6909.
KEGGhsa:6909.
UCSCuc002izg.3. human.

Organism-specific databases

CTD6909.
GeneCardsGC17P059477.
HGNCHGNC:11597. TBX2.
HPACAB013636.
HPA008586.
MIM600747. gene.
neXtProtNX_Q13207.
Orphanet261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKBPA36360.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240293.
HOGENOMHOG000038046.
HOVERGENHBG000412.
InParanoidQ13207.
KOK10176.
OMASPAPEHH.
OrthoDBEOG7W9RV1.
PhylomeDBQ13207.
TreeFamTF106341.

Enzyme and pathway databases

SignaLinkQ13207.

Gene expression databases

ArrayExpressQ13207.
BgeeQ13207.
CleanExHS_TBX2.
GenevestigatorQ13207.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR022582. TBX.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
PF12598. TBX. 1 hit.
[Graphical view]
PRINTSPR00938. BRACHYURY.
PR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTBX2.
GenomeRNAi6909.
NextBio27019.
PROQ13207.
SOURCESearch...

Entry information

Entry nameTBX2_HUMAN
AccessionPrimary (citable) accession number: Q13207
Secondary accession number(s): Q16424, Q7Z647
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 20, 2010
Last modified: July 9, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM