Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTT1RM26)

DOT Name	T-box transcription factor TBX22 (TBX22)
Synonyms	T-box protein 22
Gene Name	TBX22
Related Disease	Cleft palate with or without ankyloglossia, X-linked ( ) Aortic valve stenosis ( ) Cleft lip ( ) Cleft lip/palate ( ) Cleft palate ( ) Intellectual disability ( ) Isolated cleft lip ( ) Isolated cleft palate ( ) Tooth agenesis ( ) Cystic fibrosis ( ) Abruzzo-Erickson syndrome ( ) Acute monocytic leukemia ( ) Congenital radioulnar synostosis ( ) Digestive system neoplasm ( ) Osteomyelitis ( ) Polydactyly ( )
UniProt ID	TBX22_HUMAN
3D Structure	Download 2D Sequence (FASTA) Download 3D Structure (PDB) Download
Pfam ID	PF00907
Sequence	MALSSRARAFSVEALVGRPSKRKLQDPIQAEQPELREKKGGEEEEERRSSAAGKSEPLEK QPKTEPSTSASSGCGSDSGYGNSSESLEEKDIQMELQGSELWKRFHDIGTEMIITKAGRR MFPSVRVKVKGLDPGKQYHVAIDVVPVDSKRYRYVYHSSQWMVAGNTDHLCIIPRFYVHP DSPCSGETWMRQIISFDRMKLTNNEMDDKGHIILQSMHKYKPRVHVIEQGSSVDLSQIQS LPTEGVKTFSFKETEFTTVTAYQNQQITKLKIERNPFAKGFRDTGRNRGVLDGLLETYPW RPSFTLDFKTFGADTQSGSSGSSPVTSSGGAPSPLNSLLSPLCFSPMFHLPTSSLGMPCP EAYLPNVNLPLCYKICPTNFWQQQPLVLPAPERLASSNSSQSLAPLMMEVPMLSSLGVTN SKSGSSEDSSDQYLQAPNSTNQMLYGLQSPGNIFLPNSITPEALSCSFHPSYDFYRYNFS MPSRLISGSNHLKVNDDSQVSFGEGKCNHVHWYPAINHYL
Function	Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
Tissue Specificity	Seems to be expressed at a low level.

Molecular Interaction Atlas (MIA) of This DOT

16 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance
Cleft palate with or without ankyloglossia, X-linked	DISARMUU	Definitive	X-linked recessive	[1]
Aortic valve stenosis	DISW7AQ9	Strong	Biomarker	[2]
Cleft lip	DISV3XW6	Strong	Genetic Variation	[3]
Cleft lip/palate	DIS14IG3	Strong	Genetic Variation	[4]
Cleft palate	DIS6G5TF	Strong	Posttranslational Modification	[5]
Intellectual disability	DISMBNXP	Strong	Genetic Variation	[6]
Isolated cleft lip	DIS2O2JV	Strong	Biomarker	[7]
Isolated cleft palate	DISV80CD	Strong	Posttranslational Modification	[5]
Tooth agenesis	DIS1PWC7	Strong	Genetic Variation	[3]
Cystic fibrosis	DIS2OK1Q	moderate	Biomarker	[8]
Abruzzo-Erickson syndrome	DISKCSI9	Supportive	X-linked	[7]
Acute monocytic leukemia	DIS28NEL	Limited	Biomarker	[9]
Congenital radioulnar synostosis	DISF96QX	Limited	Biomarker	[7]
Digestive system neoplasm	DISPOJCT	Limited	Biomarker	[10]
Osteomyelitis	DIS0VUZL	Limited	Biomarker	[11]
Polydactyly	DIS25BMZ	Limited	Biomarker	[7]
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⏷ Show the Full List of 16 Disease(s)

Molecular Interaction Atlas (MIA)

MIA Detail

Jump to Detail Molecular Interaction Atlas of This DOT

1 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Demecolcine	DMCZQGK	Approved	Demecolcine increases the expression of T-box transcription factor TBX22 (TBX22).	[12]
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1 Drug(s) Affected the Post-Translational Modifications of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene decreases the methylation of T-box transcription factor TBX22 (TBX22).	[13]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	Cardiopulmonary Exercise Testing in Aortic Stenosis.Dan Med J. 2017 May;64(5):B5352.
3	Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19.
4	TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.Cleft Palate Craniofac J. 2012 Mar;49(2):240-4. doi: 10.1597/10-208. Epub 2011 Mar 4.
5	DNA hypermethylation of Fgf16 and Tbx22 associated with cleft palate during palatal fusion.J Appl Oral Sci. 2019 Oct 7;27:e20180649. doi: 10.1590/1678-7757-2018-0649. eCollection 2019.
6	A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.BMC Med Genet. 2015 Sep 1;16:74. doi: 10.1186/s12881-015-0220-z.
7	X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.
8	Control of the proinflammatory state in cystic fibrosis lung epithelial cells by genes from the TNF-alphaR/NFkappaB pathway.Mol Med. 2001 Aug;7(8):523-34.
9	CPX-351 (vyxeos) in AML.Leuk Lymphoma. 2020 Feb;61(2):288-297. doi: 10.1080/10428194.2019.1660970. Epub 2019 Sep 24.
10	Chemo-immunotherapy improves long-term survival in a preclinical model of MMR-D-related cancer.J Immunother Cancer. 2019 Jan 10;7(1):8. doi: 10.1186/s40425-018-0476-x.
11	Dual effect biodegradable ciprofloxacin loaded implantable matrices for osteomyelitis: controlled release and osteointegration.Drug Dev Ind Pharm. 2018 Jun;44(6):1023-1033. doi: 10.1080/03639045.2018.1430820. Epub 2018 Mar 14.
12	Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.
13	Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.