Details of Drug Off-Target (DOT)

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

• DOT Name: Coiled-coil domain-containing protein 103 (CCDC103)
• Gene Name: CCDC103
• Related Disease:
  Primary ciliary dyskinesia 17
  Primary ciliary dyskinesia 1
  Primary ciliary dyskinesia
• UniProt ID: CC103_HUMAN
• Pfam ID: PF15867 ; PF13877
• Sequence:
  MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLE
  RKDKMGGKRTVPWNCHTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERY
  QALLQLGGPRLGCLFQTDVGFGLLGELLVALADHVGPADRAAVLGILCSLASTGRFTLNL
  SLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGLEEQSGGLQEEERLLQELLELYQ
  VD
• Function: Dynein-attachment factor required for cilia motility.

Molecular Interaction Atlas (MIA) of This DOT

3 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Primary ciliary dyskinesia 17	DISP69YB	Definitive	Autosomal recessive	[1]
Primary ciliary dyskinesia 1	DISPGX6H	Strong	GermlineCausalMutation	[2]
Primary ciliary dyskinesia	DISOBC7V	Supportive	Autosomal dominant	[2]

3 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Cisplatin	DMRHGI9	Approved	Cisplatin increases the expression of Coiled-coil domain-containing protein 103 (CCDC103).	[3]
Estradiol	DMUNTE3	Approved	Estradiol decreases the expression of Coiled-coil domain-containing protein 103 (CCDC103).	[4]
Urethane	DM7NSI0	Phase 4	Urethane decreases the expression of Coiled-coil domain-containing protein 103 (CCDC103).	[5]

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] CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277.
• [3] Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
• [4] 17-Estradiol Activates HSF1 via MAPK Signaling in ER-Positive Breast Cancer Cells. Cancers (Basel). 2019 Oct 11;11(10):1533. doi: 10.3390/cancers11101533.
• [5] Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.