Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTMLRB1D)

DOT Name	Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (PDE6H)
Synonyms	GMP-PDE gamma; EC 3.1.4.35
Gene Name	PDE6H
Related Disease	Disorder of orbital region ( ) Red color blindness ( ) Red-green color blindness ( ) Cone dystrophy with supernormal rod response ( ) Neoplasm ( ) Non-hodgkin lymphoma ( ) Retinal cone dystrophy 3A ( ) Blue cone monochromacy ( ) Cone dystrophy ( ) Achromatopsia ( )
UniProt ID	CNCG_HUMAN
3D Structure	Download 2D Sequence (FASTA) Download 3D Structure (PDB) Download
EC Number	3.1.4.35
Pfam ID	PF04868
Sequence	MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDI TVICPWEAFSHLELHELAQFGII
Function	Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
KEGG Pathway	Purine metabolism (hsa00230 ) Metabolic pathways (hsa01100 )

Molecular Interaction Atlas (MIA) of This DOT

10 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance
Disorder of orbital region	DISH0ECJ	Definitive	Biomarker	[1]
Red color blindness	DISQHW4Z	Definitive	Biomarker	[1]
Red-green color blindness	DISV3ZVU	Definitive	Biomarker	[1]
Cone dystrophy with supernormal rod response	DISHSXP5	Strong	Genetic Variation	[2]
Neoplasm	DISZKGEW	Strong	Biomarker	[3]
Non-hodgkin lymphoma	DISS2Y8A	Strong	Biomarker	[3]
Retinal cone dystrophy 3A	DISPA1DO	Strong	Autosomal recessive	[4]
Blue cone monochromacy	DISYV7KB	moderate	Genetic Variation	[4]
Cone dystrophy	DIS7SAZZ	moderate	Genetic Variation	[5]
Achromatopsia	DISKL51I	Supportive	Autosomal recessive	[6]
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Molecular Interaction Atlas (MIA)

Jump to Detail Molecular Interaction Atlas of This DOT

1 Drug(s) Affected the Post-Translational Modifications of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene increases the methylation of Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (PDE6H).	[7]
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References

1	Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.J Biol Chem. 2015 Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4.
2	Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471.
3	6q deletions define distinct clinico-pathologic subsets of non-Hodgkin's lymphoma.Blood. 1993 Oct 1;82(7):2157-62.
4	A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16.
5	A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Ophthalmology. 2005 Jan;112(1):159-66. doi: 10.1016/j.ophtha.2004.07.011.
6	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
7	Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.