CleftGeneDB-Search

Gene: TBX2

Basic information

Tag	Content
Uniprot ID	Q13207; Q16424; Q7Z647;
Entrez ID	6909
Genbank protein ID	AAA73861.1; AAH52566.1; AAB36216.1;
Genbank nucleotide ID	NM_005994.3
Ensembl protein ID	ENSP00000240328
Ensembl nucleotide ID	ENSG00000121068
Gene name	T-box transcription factor TBX2
Gene symbol	TBX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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.
Sequence	MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK PLPDPGLAGA 60 AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE VEDDPKVTLE AKELWDQFHK 120 LGTEMVITKS GRRMFPPFKV RVSGLDKKAK YILLMDIVAA DDCRYKFHNS RWMVAGKADP 180 EMPKRMYIHP DSPATGEQWM AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN 240 DILKLPYSTF RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 300 LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR AEEKSCAADS 360 DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR SPERGKEPAE SGGDGPFGLR 420 SLEKERAEAR RKDEGRKEAA EGKEQGLAPL VVQTDSASPL GAGHLPGLAF SSHLHGQQFF 480 GPLGAGQPLF LHPGQFTMGP GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA 540 ASAASTAAPF PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA 600 AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG GNSREPSPLP 660 ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES QRALSPGRES PK 712

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Tbx2	21385	Q60707	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TBX2	535982	E1BLY0		Bos taurus	Prediction	More>>
1:1 ortholog	TBX2		J9NV98		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TBX2		A0A452EL03		Capra hircus	Prediction	More>>
1:1 ortholog	TBX2	6909	Q13207		Homo sapiens	Prediction	More>>
1:1 ortholog	TBX2	454800	H2QDL3		Pan troglodytes	Prediction	More>>
1:1 ortholog	TBX2	100622658	F8SIP4		Sus scrofa	Prediction	More>>

Showing 1 to 7 of 7 entries

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1555877071	p.Arg305His	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt,dbSNP
VAR_081781	p.Arg305His	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt
rs1364709483	p.Arg20Gln	missense variant	-	NC_000017.11:g.61400235G>A	TOPMed,gnomAD
rs1410117068	p.Pro21Thr	missense variant	-	NC_000017.11:g.61400237C>A	TOPMed,gnomAD
rs1390426411	p.Pro44Gln	missense variant	-	NC_000017.11:g.61400307C>A	TOPMed,gnomAD
rs1221726143	p.Ala62Thr	missense variant	-	NC_000017.11:g.61400360G>A	TOPMed,gnomAD
rs901242277	p.Ala63Thr	missense variant	-	NC_000017.11:g.61400363G>A	TOPMed,gnomAD
rs901242277	p.Ala63Ser	missense variant	-	NC_000017.11:g.61400363G>T	TOPMed,gnomAD
rs1186036074	p.Ala69Thr	missense variant	-	NC_000017.11:g.61400381G>A	TOPMed,gnomAD
rs1186036074	p.Ala69Ser	missense variant	-	NC_000017.11:g.61400381G>T	TOPMed,gnomAD
rs1022494087	p.Glu72Ala	missense variant	-	NC_000017.11:g.61400391A>C	TOPMed,gnomAD
rs1417724940	p.His83Gln	missense variant	-	NC_000017.11:g.61400425C>A	TOPMed,gnomAD
rs1210493837	p.Pro85Arg	missense variant	-	NC_000017.11:g.61400430C>G	TOPMed,gnomAD
rs1360887442	p.Leu89Gln	missense variant	-	NC_000017.11:g.61400442T>A	TOPMed,gnomAD
rs1379017045	p.Arg90Pro	missense variant	-	NC_000017.11:g.61400445G>C	TOPMed,gnomAD
rs960923591	p.Leu92Val	missense variant	-	NC_000017.11:g.61400450C>G	TOPMed,gnomAD
rs960923591	p.Leu92Phe	missense variant	-	NC_000017.11:g.61400450C>T	TOPMed,gnomAD
rs1321130948	p.Asp161Glu	missense variant	-	NC_000017.11:g.61401771C>A	TOPMed,gnomAD
rs1217985899	p.Asn169Ser	missense variant	-	NC_000017.11:g.61401794A>G	TOPMed,gnomAD
rs1406453476	p.Glu197Gln	missense variant	-	NC_000017.11:g.61401877G>C	TOPMed,gnomAD

Showing 1 to 20 of 620 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0014116	Endocardial Cushion Defects	group	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0032915	Preexcitation Syndrome	disease	BEFREE
C0035436	Rheumatic Fever	disease	BEFREE
C0041207	Truncus Arteriosus, Persistent	disease	BEFREE
C0152101	Hypoplastic Left Heart Syndrome	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0201976	Creatinine measurement, serum (procedure)	phenotype	GWASCAT;GWASDB
C0206686	Adrenocortical carcinoma	disease	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0264490	Acute respiratory failure	disease	BEFREE

Showing 1 to 20 of 32 entries

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001102	RNA polymerase II activating transcription factor binding	IBA
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	TAS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA

Showing 1 to 10 of 10 entries

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001708	cell fate specification	IBA
GO:0001947	heart looping	ISS
GO:0001947	heart looping	IBA
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003151	outflow tract morphogenesis	ISS
GO:0003203	endocardial cushion morphogenesis	ISS
GO:0003205	cardiac chamber development	IBA
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS
GO:0007219	Notch signaling pathway	IEA
GO:0007417	central nervous system development	IBA
GO:0007521	muscle cell fate determination	ISS
GO:0007569	cell aging	IDA
GO:0008016	regulation of heart contraction	ISS
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IBA
GO:0035050	embryonic heart tube development	ISS
GO:0035909	aorta morphogenesis	ISS
GO:0036302	atrioventricular canal development	ISS

Showing 1 to 20 of 33 entries

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005667	transcription factor complex	IEA

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
No data available in table

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C000611646	bisphenol F	bisphenol F results in increased expression of TBX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of TBX2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of TBX2 mRNA	25594700
C006780	bisphenol A	bisphenol A results in increased expression of TBX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TBX2 mRNA	25181051
C006780	bisphenol A	bisphenol A affects the methylation of TBX2 promoter	27415467
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of TBX2 promoter	23359474
C006780	bisphenol A	bisphenol A results in increased expression of TBX2 mRNA	30816183
C007350	nitrofen	nitrofen results in decreased expression of TBX2 mRNA	27833996
C007350	nitrofen	nitrofen results in decreased expression of TBX2 protein	27833996
C007379	diethyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C009166	retinol acetate	retinol acetate results in increased expression of TBX2 mRNA	16772331
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of TBX2 mRNA	23914054
C012125	diisononyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of TBX2 mRNA	24935251; 26272509;
C017461	lead nitrate	lead nitrate affects the reaction [TBX2 affects the expression of MT1 mRNA]	11891201
C017461	lead nitrate	lead nitrate affects the reaction [TBX2 affects the expression of MT2 mRNA]	11891201
C025605	diisobutyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C027561	butylbenzyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487

Showing 1 to 20 of 83 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0804	Transcription
KW-0805	Transcription regulation
KW-1185	Reference proteome

Showing 1 to 8 of 8 entries

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Interpro

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InterPro ID	InterPro Term
IPR001699	TF_T-box
IPR002070	TF_Brachyury
IPR008967	p53-like_TF_DNA-bd
IPR018186	TF_T-box_CS
IPR022582	TBX
IPR036960	T-box_sf

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PROSITE

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PROSITE ID	PROSITE Term
PS01264	TBOX_2
PS01283	TBOX_1
PS50252	TBOX_3

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Pfam

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Pfam ID	Pfam Term
PF00907	T-box
PF12598	TBX

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Gene: TBX2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction