Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTL087SC)

• DOT Name: Cilia- and flagella-associated protein 276 (CFAP276)
• Gene Name: CFAP276
• Related Disease: Charcot marie tooth disease
• UniProt ID: CF276_HUMAN
• PDB ID: 7UNG; 8J07
• Pfam ID: PF12494
• Sequence:
  MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLNSTPTITSMRRDA
  YYFDPEIPKDDLDFRLAALYNHHTGTFKNKSEILLNQKTTQDTYRTKIQFPGEFLTPPTP
  PITFLANIRHWINPKKESIHSIQGSIVSPHTAATNGGYSRKKDGGFFST
• Function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. May play an important role for the maintenance of myelin-axon integrity. May affect intracellular Ca(2+) homeostasis.
• Tissue Specificity: Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues.

Molecular Interaction Atlas (MIA) of This DOT

1 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Charcot marie tooth disease	DIS3BT2L	Limited	Autosomal dominant	[1]

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 decreases the methylation of Cilia- and flagella-associated protein 276 (CFAP276).	[2]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] 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.