Q13207 (TBX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-box transcription factor TBX2
Short name=T-box protein 2

Gene names

Name:

TBX2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	712 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	aorta 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_component	nucleus Inferred from direct assay PubMed 15042700. Source: BHF-UCL transcription factor complex Inferred from electronic annotation. Source: Ensembl
Molecular_function	DNA 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
PML	P29590	2	EBI-2853051,EBI-295890

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 712	712	T-box transcription factor TBX2		PRO_0000184426
Regions
	DNA binding	109 – 287	179	T-box
	Region	518 – 601	84	Repression domain 1 (RD1)
	Compositional bias	28 – 87	60	Ala-rich
	Compositional bias	461 – 538	78	Gly-rich
	Compositional bias	581 – 603	23	Ala-rich
Experimental info
	Sequence conflict	7	1	A → T in AAA73861. Ref.1
	Sequence conflict	165	1	Y → D in AAB36216. Ref.4
	Sequence conflict	175 – 178	4	AGKA → TDKT in AAB36216. Ref.4
	Sequence conflict	373	1	G → R in AAA73861. Ref.1
	Sequence conflict	401	1	S → C in AAA73861. Ref.1
	Sequence conflict	427	1	A → P in AAA73861. Ref.1
	Sequence conflict	689	1	Q → L in AAA73861. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q13207 [UniParc]. Last modified April 20, 2010. Version 3. Checksum: 5C890DFC10FC3B68	FASTA	712	75,066
	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

References

	« Hide 'large scale' referencesShow '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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
CCDS	CCDS11627.2.
PIR	G01840.
RefSeq	NP_005985.3. NM_005994.3.
UniGene	Hs.531085.
3D structure databases
ProteinModelPortal	Q13207.
SMR	Q13207. Positions 102-287.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	112772. 4 interactions.
IntAct	Q13207. 4 interactions.
MINT	MINT-6773947.
STRING	9606.ENSP00000240328.
PTM databases
PhosphoSite	Q13207.
Polymorphism databases
DMDM	294862490.
Proteomic databases
MaxQB	Q13207.
PaxDb	Q13207.
PRIDE	Q13207.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000240328; ENSP00000240328; ENSG00000121068.
GeneID	6909.
KEGG	hsa:6909.
UCSC	uc002izg.3. human.
Organism-specific databases
CTD	6909.
GeneCards	GC17P059477.
HGNC	HGNC:11597. TBX2.
HPA	CAB013636. HPA008586.
MIM	600747. gene.
neXtProt	NX_Q13207.
Orphanet	261279. 17q23.1q23.2 microdeletion syndrome.
PharmGKB	PA36360.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240293.
HOGENOM	HOG000038046.
HOVERGEN	HBG000412.
InParanoid	Q13207.
KO	K10176.
OMA	SPAPEHH.
OrthoDB	EOG7W9RV1.
PhylomeDB	Q13207.
TreeFam	TF106341.
Enzyme and pathway databases
SignaLink	Q13207.
Gene expression databases
ArrayExpress	Q13207.
Bgee	Q13207.
CleanEx	HS_TBX2.
Genevestigator	Q13207.
Family and domain databases
Gene3D	2.60.40.820. 1 hit.
InterPro	IPR008967. p53-like_TF_DNA-bd. IPR022582. TBX. IPR002070. TF_Brachyury. IPR001699. TF_T-box. IPR018186. TF_T-box_CS. [Graphical view]
PANTHER	PTHR11267. PTHR11267. 1 hit.
Pfam	PF00907. T-box. 1 hit. PF12598. TBX. 1 hit. [Graphical view]
PRINTS	PR00938. BRACHYURY. PR00937. TBOX.
SMART	SM00425. TBOX. 1 hit. [Graphical view]
SUPFAM	SSF49417. SSF49417. 1 hit.
PROSITE	PS01283. TBOX_1. 1 hit. PS01264. TBOX_2. 1 hit. PS50252. TBOX_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	TBX2.
GenomeRNAi	6909.
NextBio	27019.
PRO	Q13207.
SOURCE	Search...

Entry information

Entry name

TBX2_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.