Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTIFG9O6)

DOT Name Sterile alpha motif domain-containing protein 12 (SAMD12)
Synonyms SAM domain-containing protein 12
Gene Name SAMD12
Related Disease
Epilepsy ( )
Dravet syndrome ( )
Epilepsy, familial adult myoclonic, 1 ( )
Familial infantile myoclonic epilepsy ( )
Myoclonic-astatic epilepsy ( )
Refractory multiple myeloma ( )
Benign adult familial myoclonic epilepsy ( )
Non-insulin dependent diabetes ( )
UniProt ID
SAM12_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Pfam ID
PF07647
Sequence
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEA
ETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLE
RMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQGTLLLPDGWMDGEIRRKTTLLLGQTG
VRENLLLFLHRISIIENSIQI
Tissue Specificity Expressed in the brain.

Molecular Interaction Atlas (MIA) of This DOT

8 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Epilepsy DISBB28L Definitive Genetic Variation [1]
Dravet syndrome DISJF7LY Strong Biomarker [2]
Epilepsy, familial adult myoclonic, 1 DIS10Z6D Strong Autosomal dominant [2]
Familial infantile myoclonic epilepsy DISELJ0F Strong Biomarker [2]
Myoclonic-astatic epilepsy DISTAVMU Strong Biomarker [2]
Refractory multiple myeloma DIS606GH Strong Genetic Variation [3]
Benign adult familial myoclonic epilepsy DISIMWOV Supportive Autosomal dominant [4]
Non-insulin dependent diabetes DISK1O5Z Limited Biomarker [5]
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⏷ Show the Full List of 8 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
5 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Tretinoin DM49DUI Approved Tretinoin increases the expression of Sterile alpha motif domain-containing protein 12 (SAMD12). [6]
Acetaminophen DMUIE76 Approved Acetaminophen decreases the expression of Sterile alpha motif domain-containing protein 12 (SAMD12). [7]
Doxorubicin DMVP5YE Approved Doxorubicin decreases the expression of Sterile alpha motif domain-containing protein 12 (SAMD12). [8]
Progesterone DMUY35B Approved Progesterone decreases the expression of Sterile alpha motif domain-containing protein 12 (SAMD12). [9]
PMID28460551-Compound-2 DM4DOUB Patented PMID28460551-Compound-2 decreases the expression of Sterile alpha motif domain-containing protein 12 (SAMD12). [11]
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2 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 affects the methylation of Sterile alpha motif domain-containing protein 12 (SAMD12). [10]
Bisphenol A DM2ZLD7 Investigative Bisphenol A affects the methylation of Sterile alpha motif domain-containing protein 12 (SAMD12). [12]
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References

1 Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.Mov Disord. 2019 Oct;34(10):1571-1576. doi: 10.1002/mds.27832. Epub 2019 Sep 4.
2 Expansions?of?intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.
3 RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10.
4 Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. Brain. 2018 Aug 1;141(8):2280-2288. doi: 10.1093/brain/awy160.
5 Novel epigenetic determinants of type 2 diabetes in Mexican-American families.Hum Mol Genet. 2015 Sep 15;24(18):5330-44. doi: 10.1093/hmg/ddv232. Epub 2015 Jun 22.
6 Retinoic acid receptor alpha amplifications and retinoic acid sensitivity in breast cancers. Clin Breast Cancer. 2013 Oct;13(5):401-8.
7 Gene expression analysis of precision-cut human liver slices indicates stable expression of ADME-Tox related genes. Toxicol Appl Pharmacol. 2011 May 15;253(1):57-69.
8 Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
9 Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. Biol Reprod. 2011 Apr;84(4):801-15.
10 Effect of aflatoxin B(1), benzo[a]pyrene, and methapyrilene on transcriptomic and epigenetic alterations in human liver HepaRG cells. Food Chem Toxicol. 2018 Nov;121:214-223. doi: 10.1016/j.fct.2018.08.034. Epub 2018 Aug 26.
11 Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
12 DNA methylome-wide alterations associated with estrogen receptor-dependent effects of bisphenols in breast cancer. Clin Epigenetics. 2019 Oct 10;11(1):138. doi: 10.1186/s13148-019-0725-y.