Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTI459M8)

DOT Name EF-hand domain-containing family member C2 (EFHC2)
Gene Name EFHC2
Related Disease
Juvenile myoclonic epilepsy ( )
Norrie disease ( )
Panic disorder ( )
Rheumatoid arthritis ( )
Alcohol dependence ( )
Turner syndrome ( )
UniProt ID
EFHC2_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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PDB ID
2Z13; 2Z14; 7UNG; 8J07
Pfam ID
PF06565
Sequence
MALPLLPGNSFNRNVGKEKFHKSQHWGFCNNVMMLVSDEKPGIGGEPLLGQKIKPKCSIY
PKGDGSDVPSWVAFDKQVLSFDAYLEEEVLDKSQTNYRIRYYKIYFYPEDDTIQVNEPEV
KNSGLLQGTSIRRHRITLPPPDEDQFYTVYHFNVGTEVVFYGRTFKIYDCDAFTRNFLRK
IGVKVNPPVQCPEDPYMKIRREVVEHVEPLRPYESLDTLKQFLQYHGKILCFFCLWDDSV
SMFGDRRELILHYFLCDDTIEIKELLPHSSGRDALKMFLRRSKLPKNCPPRVYQPGQITD
RAVLNSYGDFIKNQADGYLFDRYKLGKVDQEFYKDSDLSLGVTINVWGRKVLLYDCDEFT
KSYYKSKYGIENFTSVSCKPPSPPPKIERKFPPYNGFGSEEDSLRNCIDLKPTPHRRNFK
KFMEKDSYGSKSNILRFFAKLVTDKCVDLDRMFVISYYLGDDTISVFEPIERNSGIAGGM
FLKRSRVKKPGQEVFKSELSEYIKAEELYIGVTVNVNGYLFRLLNADEYTLNYMEQNTDK
YPFSNLKLALQKLKQEEGKSRELKQVFKAADSKHTNMVDYNTFRDILMSLTVGNLAEQEF
VTIARHYRVPEGTCSDMDFLIALAHEKFKKNMFENFDTFIYSCVYEDREKKNVLPTKDIK
RLCKSSRLPLSDDLLESLLSRFEDSEKQIDYKSFFSALNWRKNPVPELQPASYLKERCED
VWLGMPSPIPAKYIDYWTFLKDAFGLEEE
Function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
Tissue Specificity Expressed in airway epithelial cells.

Molecular Interaction Atlas (MIA) of This DOT

6 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Juvenile myoclonic epilepsy DISYXV1N Strong Biomarker [1]
Norrie disease DISOCDDU Strong Genetic Variation [2]
Panic disorder DISD3VNY Strong Genetic Variation [3]
Rheumatoid arthritis DISTSB4J Strong Biomarker [1]
Alcohol dependence DIS4ZSCO moderate Biomarker [4]
Turner syndrome DIS2035C Limited Biomarker [1]
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Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
6 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate increases the expression of EF-hand domain-containing family member C2 (EFHC2). [5]
Tretinoin DM49DUI Approved Tretinoin decreases the expression of EF-hand domain-containing family member C2 (EFHC2). [6]
Estradiol DMUNTE3 Approved Estradiol decreases the expression of EF-hand domain-containing family member C2 (EFHC2). [7]
SNDX-275 DMH7W9X Phase 3 SNDX-275 increases the expression of EF-hand domain-containing family member C2 (EFHC2). [5]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the expression of EF-hand domain-containing family member C2 (EFHC2). [8]
PMID28460551-Compound-2 DM4DOUB Patented PMID28460551-Compound-2 decreases the expression of EF-hand domain-containing family member C2 (EFHC2). [9]
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⏷ Show the Full List of 6 Drug(s)

References

1 EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish.Cell Biosci. 2018 Oct 16;8:53. doi: 10.1186/s13578-018-0253-z. eCollection 2018.
2 Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.Am J Med Genet A. 2007 May 1;143A(9):916-20. doi: 10.1002/ajmg.a.31521.
3 Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.Neurosci Lett. 2009 Mar 6;452(1):84-6. doi: 10.1016/j.neulet.2009.01.036. Epub 2009 Jan 19.
4 EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction.Mol Psychiatry. 2018 May;23(5):1303-1319. doi: 10.1038/mp.2017.63. Epub 2017 Apr 11.
5 Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests. Arch Toxicol. 2017 Feb;91(2):839-864.
6 Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells. 2020 Nov 5;9(11):2423. doi: 10.3390/cells9112423.
7 17-Estradiol Activates HSF1 via MAPK Signaling in ER-Positive Breast Cancer Cells. Cancers (Basel). 2019 Oct 11;11(10):1533. doi: 10.3390/cancers11101533.
8 Benzo[a]pyrene-induced changes in microRNA-mRNA networks. Chem Res Toxicol. 2012 Apr 16;25(4):838-49.
9 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.