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

DOT Name Beta-crystallin B3 (CRYBB3)
Synonyms Beta-B3 crystallin
Gene Name CRYBB3
Related Disease
Cataract 22 multiple types ( )
Cataract ( )
Early-onset anterior polar cataract ( )
Early-onset nuclear cataract ( )
Neurofibromatosis type 2 ( )
UniProt ID
CRBB3_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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PDB ID
3QK3
Pfam ID
PF00030
Sequence
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQ
VESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFE
NPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRH
WNEWDASQPQLQSVRRIRDQKWHKRGRFPSS
Function Crystallins are the dominant structural components of the vertebrate eye lens.

Molecular Interaction Atlas (MIA) of This DOT

5 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Cataract 22 multiple types DISHAACF Definitive Autosomal recessive [1]
Cataract DISUD7SL Strong Genetic Variation [2]
Early-onset anterior polar cataract DISTOPIY Supportive Autosomal dominant [3]
Early-onset nuclear cataract DISGIHUY Supportive Autosomal dominant [3]
Neurofibromatosis type 2 DISI8ECS Limited Biomarker [4]
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Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
3 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate increases the methylation of Beta-crystallin B3 (CRYBB3). [5]
Arsenic DMTL2Y1 Approved Arsenic affects the methylation of Beta-crystallin B3 (CRYBB3). [6]
Fulvestrant DM0YZC6 Approved Fulvestrant decreases the methylation of Beta-crystallin B3 (CRYBB3). [7]
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1 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Ethanol DMDRQZU Approved Ethanol decreases the expression of Beta-crystallin B3 (CRYBB3). [8]
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References

1 Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. doi: 10.1167/iovs.04-1481.
2 Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Mol Vis. 2016 Jun 8;22:589-98. eCollection 2016.
3 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.
4 Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2.Cytogenet Cell Genet. 1991;56(3-4):171-5. doi: 10.1159/000133080.
5 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.
6 Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
7 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.
8 The use of genomics technology to investigate gene expression changes in cultured human liver cells. Toxicol In Vitro. 2001 Aug-Oct;15(4-5):399-405. doi: 10.1016/s0887-2333(01)00043-1.