Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OT43DTAV)

DOT Name Bardet-Biedl syndrome 12 protein (BBS12)
Gene Name BBS12
Related Disease
Bardet-Biedl syndrome 12 ( )
Ciliopathy ( )
Nephropathy ( )
Nijmegen breakage syndrome ( )
Retinitis pigmentosa ( )
Bardet biedl syndrome ( )
UniProt ID
BBS12_HUMAN
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
Pfam ID
PF00118
Sequence
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESL
DLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGL
NFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVA
SQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRT
DNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIE
GDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLD
VVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGG
AVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIP
RVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL
Function
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.
Reactome Pathway
BBSome-mediated cargo-targeting to cilium (R-HSA-5620922 )

Molecular Interaction Atlas (MIA) of This DOT

6 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Bardet-Biedl syndrome 12 DISDU7J9 Definitive Autosomal recessive [1]
Ciliopathy DIS10G4I Definitive Autosomal recessive [1]
Nephropathy DISXWP4P Definitive Biomarker [2]
Nijmegen breakage syndrome DIS98HVL Strong Genetic Variation [3]
Retinitis pigmentosa DISCGPY8 Strong Genetic Variation [4]
Bardet biedl syndrome DISTBNZW Supportive Autosomal recessive [5]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
This DOT Affected the Drug Response of 1 Drug(s)
Drug Name Drug ID Highest Status Interaction REF
Doxorubicin DMVP5YE Approved Bardet-Biedl syndrome 12 protein (BBS12) affects the response to substance of Doxorubicin. [15]
------------------------------------------------------------------------------------
9 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 Bardet-Biedl syndrome 12 protein (BBS12). [6]
Ciclosporin DMAZJFX Approved Ciclosporin decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [7]
Cupric Sulfate DMP0NFQ Approved Cupric Sulfate decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [8]
Cisplatin DMRHGI9 Approved Cisplatin decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [9]
Quercetin DM3NC4M Approved Quercetin decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [10]
Urethane DM7NSI0 Phase 4 Urethane increases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [11]
PMID28460551-Compound-2 DM4DOUB Patented PMID28460551-Compound-2 decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [12]
Trichostatin A DM9C8NX Investigative Trichostatin A affects the expression of Bardet-Biedl syndrome 12 protein (BBS12). [13]
Formaldehyde DM7Q6M0 Investigative Formaldehyde decreases the expression of Bardet-Biedl syndrome 12 protein (BBS12). [14]
------------------------------------------------------------------------------------
⏷ Show the Full List of 9 Drug(s)

References

1 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.
2 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.Clin J Am Soc Nephrol. 2011 Jan;6(1):22-9. doi: 10.2215/CJN.03320410. Epub 2010 Sep 28.
3 Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Front Mol Biosci. 2017 Jul 31;4:55. doi: 10.3389/fmolb.2017.00055. eCollection 2017.
4 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
5 Bardet-Biedl Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. 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 Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
7 Integrating multiple omics to unravel mechanisms of Cyclosporin A induced hepatotoxicity in vitro. Toxicol In Vitro. 2015 Apr;29(3):489-501.
8 Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
9 Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
10 Comparison of phenotypic and transcriptomic effects of false-positive genotoxins, true genotoxins and non-genotoxins using HepG2 cells. Mutagenesis. 2011 Sep;26(5):593-604.
11 Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
12 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.
13 A trichostatin A expression signature identified by TempO-Seq targeted whole transcriptome profiling. PLoS One. 2017 May 25;12(5):e0178302. doi: 10.1371/journal.pone.0178302. eCollection 2017.
14 Gene expression changes in primary human nasal epithelial cells exposed to formaldehyde in vitro. Toxicol Lett. 2010 Oct 5;198(2):289-95.
15 Prediction of doxorubicin sensitivity in breast tumors based on gene expression profiles of drug-resistant cell lines correlates with patient survival. Oncogene. 2005 Nov 17;24(51):7542-51. doi: 10.1038/sj.onc.1208908.