Details of Drug Off-Target (DOT)

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

DOT Name Otoancorin (OTOA)
Gene Name OTOA
Related Disease
Autosomal recessive nonsyndromic hearing loss 22 ( )
Nonsyndromic genetic hearing loss ( )
Adrenogenital syndrome ( )
Alpha-1 antitrypsin deficiency ( )
Complement component 2 deficiency ( )
Congenital adrenal hyperplasia ( )
Cytochrome-c oxidase deficiency disease ( )
Deafness ( )
Sensorineural hearing loss disorder ( )
Von Willebrand disease type 2N ( )
Hearing loss, autosomal recessive ( )
UniProt ID
OTOAN_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Sequence
MSQEPTTYSLFLFLFLSHGVSSYTVPNSRQDLHPLLQNMAEEIIDGSYLNALLDLIQFQS
SHVWTDDLSHRVLAYLNSRNVAFTIPSLQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRT
AMKCLLEDKKDGLDLKDIIIDLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEIL
GKVLRGSSGSFLQPDITERLPRDLREDAFKNLSAVFKDLYDKTSAHSQRALYSWMTGILQ
TSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIEIGLFISYDNATKQLDMVYDI
TPELAQAFLERISSSNFNMRNTSTIHRQAHELWALEPFPKMLGLLVCFYNDLELLDATVA
QVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAVVGLTYSQLESLS
PEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMK
RKDISQVLRSAVSQYVSDLSPAQQQGILSKMVQAEDTAPGIVEIQGAFFKEVSLFDLRRQ
PGFNSTVLKDKELGRSQALFLYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLA
HFQDFQNNFALLSPYQVNCLAWKYWEVSRLSMPPFLLAALPARYLASVPASQCVPFLISL
GKSWLDSLVLDSHKKTSVLRKVQQCLDDSIADEYTVDIMGNLLCHLPAAIIDRGISPRAW
ATALHGLRDCPDLNPEQKAAVRLKLLGQYGLPQHWTAETTKDLGPFLVLFSGDELSSIAT
KFPEILLQAASKMARTLPTKEFLWAVFQSVRNSSDKIPSYDPMPGCHGVVAPSSDDIFKL
AEANACWALEDLRCMEEDTFIRTVELLGAVQGFSRPQLMTLKEKAIQVWDMPSYWREHHI
VSLGRIALALNESELEQLDLSSIDTVASLSWQTEWTPGQAESILQGYLDDSGYSIQDLKS
FHLVGLGATLCAINITEIPLIKISEFRVVVARIGTLLCSTHVLAEFKRKAEVVFGDPTEW
TSSVLQELGTIAAGLTKAELRMLDKDLMPYFQPSAIKCLPDEIFKELSAEQIASLGPENA
AAVTHAQRRRLSPLQLQSLQQALDGAKTHSWQDAPASAGPTRTSSSRSPAGALQSWGLWL
GCPLLVLMAKLLW
Function May act as an adhesion molecule.
Reactome Pathway
Post-translational modification (R-HSA-163125 )

Molecular Interaction Atlas (MIA) of This DOT

11 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Autosomal recessive nonsyndromic hearing loss 22 DISLK6P9 Definitive Autosomal recessive [1]
Nonsyndromic genetic hearing loss DISZX61P Definitive Autosomal recessive [2]
Adrenogenital syndrome DIS2N76U Strong Genetic Variation [3]
Alpha-1 antitrypsin deficiency DISQKEHW Strong Genetic Variation [3]
Complement component 2 deficiency DIS8OWGU Strong Genetic Variation [3]
Congenital adrenal hyperplasia DISG873W Strong Genetic Variation [3]
Cytochrome-c oxidase deficiency disease DISK7N3G Strong Genetic Variation [3]
Deafness DISKCLH4 Strong Biomarker [4]
Sensorineural hearing loss disorder DISJV45Z Strong Genetic Variation [3]
Von Willebrand disease type 2N DIS7S2QL Strong Genetic Variation [3]
Hearing loss, autosomal recessive DIS8G9R9 Supportive Autosomal recessive [5]
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⏷ Show the Full List of 11 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
2 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Urethane DM7NSI0 Phase 4 Urethane decreases the expression of Otoancorin (OTOA). [6]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the mutagenesis of Otoancorin (OTOA). [7]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
4 Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.Clin Genet. 2013 Sep;84(3):294-6. doi: 10.1111/cge.12047. Epub 2012 Nov 23.
5 Genetic Hearing Loss Overview. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
6 Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
7 Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells. Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:48-54. doi: 10.1016/j.mrgentox.2014.10.011. Epub 2014 Nov 4.