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Q13207

- TBX2_HUMAN

UniProt

Q13207 - TBX2_HUMAN

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
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (20 Apr 2010)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    3. sequence-specific DNA binding Source: UniProtKB
    4. 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

    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

    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

    ArrayExpressiQ13207.
    BgeeiQ13207.
    CleanExiHS_TBX2.
    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.
    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

    MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK    50
    PLPDPGLAGA AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE 100
    VEDDPKVTLE AKELWDQFHK LGTEMVITKS GRRMFPPFKV RVSGLDKKAK 150
    YILLMDIVAA DDCRYKFHNS RWMVAGKADP EMPKRMYIHP DSPATGEQWM 200
    AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN DILKLPYSTF 250
    RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 300
    LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR 350
    AEEKSCAADS DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR 400
    SPERGKEPAE SGGDGPFGLR SLEKERAEAR RKDEGRKEAA EGKEQGLAPL 450
    VVQTDSASPL GAGHLPGLAF SSHLHGQQFF GPLGAGQPLF LHPGQFTMGP 500
    GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA ASAASTAAPF 550
    PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA 600
    AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG 650
    GNSREPSPLP ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES 700
    QRALSPGRES PK 712
    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.
    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

    ArrayExpressi Q13207.
    Bgeei Q13207.
    CleanExi HS_TBX2.
    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

    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 1, 2014
    This is version 129 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