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UniProtKB - 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: 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

  • DNA binding Source: ProtInc
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB

GO - Biological processi

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:11597. TBX2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

MalaCardsiTBX2.
Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKBiPA36360.

Polymorphism and mutation databases

BioMutaiTBX2.
DMDMi294862490.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei336 – 3361PhosphoserineBy similarity
Modified residuei342 – 3421PhosphoserineBy similarity
Modified residuei360 – 3601PhosphoserineBy similarity
Modified residuei653 – 6531PhosphoserineCombined sources
Modified residuei657 – 6571PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13207.
PaxDbiQ13207.
PeptideAtlasiQ13207.
PRIDEiQ13207.

PTM databases

iPTMnetiQ13207.
PhosphoSiteiQ13207.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000121068.
CleanExiHS_TBX2.
ExpressionAtlasiQ13207. baseline and differential.
GenevisibleiQ13207. HS.

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. 6 interactions.
IntActiQ13207. 5 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

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000038046.
HOVERGENiHBG000412.
InParanoidiQ13207.
KOiK10176.
OMAiSPAPEHH.
OrthoDBiEOG091G0I8R.
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 differs from that shown. Reason: Frameshift at position 4. Curated
The sequence AAH52566 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc010wox.3. human.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi112772. 6 interactions.
IntActiQ13207. 5 interactions.
MINTiMINT-6773947.
STRINGi9606.ENSP00000240328.

PTM databases

iPTMnetiQ13207.
PhosphoSiteiQ13207.

Polymorphism and mutation databases

BioMutaiTBX2.
DMDMi294862490.

Proteomic databases

MaxQBiQ13207.
PaxDbiQ13207.
PeptideAtlasiQ13207.
PRIDEiQ13207.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240328; ENSP00000240328; ENSG00000121068.
GeneIDi6909.
KEGGihsa:6909.
UCSCiuc010wox.3. human.

Organism-specific databases

CTDi6909.
GeneCardsiTBX2.
HGNCiHGNC:11597. TBX2.
HPAiCAB013636.
HPA008586.
MalaCardsiTBX2.
MIMi600747. gene.
neXtProtiNX_Q13207.
Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKBiPA36360.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000038046.
HOVERGENiHBG000412.
InParanoidiQ13207.
KOiK10176.
OMAiSPAPEHH.
OrthoDBiEOG091G0I8R.
PhylomeDBiQ13207.
TreeFamiTF106341.

Enzyme and pathway databases

SignaLinkiQ13207.

Miscellaneous databases

GeneWikiiTBX2.
GenomeRNAii6909.
PROiQ13207.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121068.
CleanExiHS_TBX2.
ExpressionAtlasiQ13207. baseline and differential.
GenevisibleiQ13207. HS.

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]
ProtoNetiSearch...

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: September 7, 2016
This is version 146 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

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 one 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.