Details of Drug Off-Target (DOT)

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

DOT Name Nyctalopin (NYX)
Gene Name NYX
Related Disease
Congenital stationary night blindness 1A ( )
NYX-related retinopathy ( )
Achromatopsia ( )
Achromatopsia 3 ( )
Cone dystrophy ( )
Congenital stationary night blindness 2A ( )
Enhanced S-cone syndrome ( )
Leber congenital amaurosis 1 ( )
Leukemia ( )
Myopia ( )
Night blindness ( )
Retinitis pigmentosa ( )
Retinopathy ( )
Stargardt disease ( )
Congenital stationary night blindness ( )
Disorder of orbital region ( )
UniProt ID
NYX_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Pfam ID
PF13855
Sequence
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAV
SIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRY
LHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRGLANLT
HAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAEL
PADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLL
ALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASP
GSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKLLAPRV
PVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD
Tissue Specificity
Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.

Molecular Interaction Atlas (MIA) of This DOT

16 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Congenital stationary night blindness 1A DISCQ9B9 Definitive X-linked [1]
NYX-related retinopathy DIS8E4V9 Definitive X-linked [2]
Achromatopsia DISKL51I Strong Genetic Variation [3]
Achromatopsia 3 DISR4EMI Strong Genetic Variation [3]
Cone dystrophy DIS7SAZZ Strong Genetic Variation [4]
Congenital stationary night blindness 2A DISA57KI Strong Biomarker [5]
Enhanced S-cone syndrome DIS2IWS3 Strong Genetic Variation [3]
Leber congenital amaurosis 1 DISY2B33 Strong Genetic Variation [3]
Leukemia DISNAKFL Strong Altered Expression [6]
Myopia DISK5S60 Strong Genetic Variation [7]
Night blindness DIS335K9 Strong Biomarker [8]
Retinitis pigmentosa DISCGPY8 Strong Biomarker [4]
Retinopathy DISB4B0F Strong Genetic Variation [9]
Stargardt disease DISPXOTO Strong Biomarker [10]
Congenital stationary night blindness DISX0CWK Supportive Autosomal dominant [11]
Disorder of orbital region DISH0ECJ Limited Genetic Variation [7]
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⏷ Show the Full List of 16 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
2 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 Nyctalopin (NYX). [12]
Bisphenol A DM2ZLD7 Investigative Bisphenol A decreases the methylation of Nyctalopin (NYX). [13]
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References

1 CSNB1 in Chinese families associated with novel mutations in NYX. J Hum Genet. 2006;51(7):634-40. doi: 10.1007/s10038-006-0406-5. Epub 2006 May 3.
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 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
4 Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5.
5 Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13.
6 Leucine-rich repeat protein PRAME: expression, potential functions and clinical implications for leukaemia.Mol Cancer. 2010 Aug 27;9:226. doi: 10.1186/1476-4598-9-226.
7 A novel missense mutation in the NYX gene associated with high myopia.Ophthalmic Physiol Opt. 2013 May;33(3):346-53. doi: 10.1111/opo.12036. Epub 2013 Feb 14.
8 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.
9 Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.Eur J Hum Genet. 1999 Jul;7(5):574-8. doi: 10.1038/sj.ejhg.5200332.
10 Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.Ophthalmic Genet. 2014 Mar;35(1):51-6. doi: 10.3109/13816810.2013.865762. Epub 2014 Jan 7.
11 X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. 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.
12 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.
13 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.