Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTA39QNR)

DOT Name Doublesex- and mab-3-related transcription factor 2 (DMRT2)
Synonyms Doublesex-like 2 protein; DSXL-2
Gene Name DMRT2
Related Disease
Esophageal squamous cell carcinoma ( )
Gonadal dysgenesis ( )
Turner syndrome ( )
Small lymphocytic lymphoma ( )
Sickle-cell anaemia ( )
Spondylocostal dysostosis ( )
Systemic primary carnitine deficiency disease ( )
UniProt ID
DMRT2_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Pfam ID
PF00751
Sequence
MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAE
EEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPRERCTPAGGGAEPRKLSRT
PKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQRVMAAQVALRRQQATEDKKGL
SGKQNNFERKAVYQRQVRAPSLLAKSILEGYRPIPAETYVGGTFPLPPPVSDRMRKRRAF
ADKELENIMLEREYKEREMLETSQAAALFLPNRMVPGPDYNSYKSAYSPSPVEPPSKDFC
NFLPTCLDLTMQYSGSGNMELISSNVSVATTYRQYPLSSRFLVWPKCGPISDTLLYQQCL
LNATTSVQALKPGASWDLKGARVQDGLSAEQDMMPSKLEGSLVLPHTPEIQTTRSDLQGH
QAVPERSAFSPPRRNFSPIVDTDSLAAQGHVLTKISKENTRHPLPLRHNPFHSLFQQTLT
DKSGPELKTPFVKEAFEETPKKHRECLVKDNQKYTFTIDRCAKDLFVAKQVGTKLSVNEP
LSFSVESILKRPSSAITRVSQ
Function
Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome.
Tissue Specificity Expressed in testis, kidney and skeletal muscle.

Molecular Interaction Atlas (MIA) of This DOT

7 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Esophageal squamous cell carcinoma DIS5N2GV Strong Biomarker [1]
Gonadal dysgenesis DISIL2ZI Strong Genetic Variation [2]
Turner syndrome DIS2035C Strong Genetic Variation [2]
Small lymphocytic lymphoma DIS30POX moderate Genetic Variation [3]
Sickle-cell anaemia DIS5YNZB Limited Genetic Variation [4]
Spondylocostal dysostosis DISTPWFK Limited Autosomal recessive [5]
Systemic primary carnitine deficiency disease DIS9OPZ4 Limited Genetic Variation [4]
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Molecular Interaction Atlas (MIA) 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
(+)-JQ1 DM1CZSJ Phase 1 (+)-JQ1 decreases the expression of Doublesex- and mab-3-related transcription factor 2 (DMRT2). [6]
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References

1 Genome-wide gene expression profile analyses identify CTTN as a potential prognostic marker in esophageal cancer.PLoS One. 2014 Feb 14;9(2):e88918. doi: 10.1371/journal.pone.0088918. eCollection 2014.
2 A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.Hum Mol Genet. 1999 Jun;8(6):989-96. doi: 10.1093/hmg/8.6.989.
3 The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of the DMRT2 gene.Cytogenet Genome Res. 2009;125(2):81-6. doi: 10.1159/000227830. Epub 2009 Aug 31.
4 Homozygous DMRT2 variant associates with severe rib malformations in a newborn.Am J Med Genet A. 2018 May;176(5):1216-1221. doi: 10.1002/ajmg.a.38668.
5 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6 Inhibition of BRD4 attenuates tumor cell self-renewal and suppresses stem cell signaling in MYC driven medulloblastoma. Oncotarget. 2014 May 15;5(9):2355-71.