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Protein

T-box transcription factor TBX2

Gene

TBX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi109 – 287T-boxPROSITE-ProRule annotationAdd BLAST179

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ13207
SIGNORiQ13207

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000121068.13
HGNCiHGNC:11597 TBX2
MIMi600747 gene
neXtProtiNX_Q13207

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi6909
OpenTargetsiENSG00000121068
Orphaneti261279 17q23.1q23.2 microdeletion syndrome
PharmGKBiPA36360

Polymorphism and mutation databases

BioMutaiTBX2
DMDMi294862490

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844261 – 712T-box transcription factor TBX2Add BLAST712

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei336PhosphoserineBy similarity1
Modified residuei342PhosphoserineBy similarity1
Modified residuei360PhosphoserineBy similarity1
Modified residuei653PhosphoserineCombined sources1
Modified residuei657PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13207
PaxDbiQ13207
PeptideAtlasiQ13207
PRIDEiQ13207
ProteomicsDBi59225

PTM databases

iPTMnetiQ13207
PhosphoSitePlusiQ13207

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, 7 interactors
IntActiQ13207, 10 interactors
MINTiQ13207
STRINGi9606.ENSP00000240328

Structurei

3D structure databases

ProteinModelPortaliQ13207
SMRiQ13207
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni518 – 601Repression domain 1 (RD1)Add BLAST84

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi28 – 87Ala-richAdd BLAST60
Compositional biasi461 – 538Gly-richAdd BLAST78
Compositional biasi581 – 603Ala-richAdd BLAST23

Domaini

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

Phylogenomic databases

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

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR022582 TBX
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PF12598 TBX, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti7A → T in AAA73861 (PubMed:8530034).Curated1
Sequence conflicti165Y → D in AAB36216 (PubMed:8597636).Curated1
Sequence conflicti175 – 178AGKA → TDKT in AAB36216 (PubMed:8597636).Curated4
Sequence conflicti373G → R in AAA73861 (PubMed:8530034).Curated1
Sequence conflicti401S → C in AAA73861 (PubMed:8530034).Curated1
Sequence conflicti427A → P in AAA73861 (PubMed:8530034).Curated1
Sequence conflicti689Q → L in AAA73861 (PubMed:8530034).Curated1

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

Similar proteinsi

Entry informationi

Entry nameiTBX2_HUMAN
AccessioniPrimary (citable) accession number: Q13207
Secondary accession number(s): Q16424, Q7Z647
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 20, 2010
Last modified: July 18, 2018
This is version 160 of the entry and version 3 of the sequence. See 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

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