Details of Drug Off-Target (DOT)

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

• DOT Name: Coiled-coil domain-containing protein 32 (CCDC32)
• Gene Name: CCDC32
• Related Disease:
  Cardiofacioneurodevelopmental syndrome
  Syndromic intellectual disability
• UniProt ID: CCD32_HUMAN
• Pfam ID: PF14989
• Sequence:
  MKMFESADSTATRSGQDLWAEICSCLPNPEQEDGANNAFSDSFVDSCPEGEGQREVADFA
  VQPAVKPWAPLQDSEVYLASLEKKLRRIKGLNQEVTSKDMLRTLAQAKKECWDRFLQEKL
  ASEFFVDGLDSDESTLEHFKRWLQPDKVAVSTEEVQYLIPPESQVEKPVAEDEPAAGDKP
  AAAEQ
• Function: Regulates clathrin-mediated endocytsois of cargos such as transferrin probably through the association and modulation of adaptor protein complex 2 (AP-2). Has a role in ciliogenesis. Required for proper cephalic and left/right axis development.

Molecular Interaction Atlas (MIA) of This DOT

2 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Cardiofacioneurodevelopmental syndrome	DISREVYT	Moderate	Autosomal recessive	[1]
Syndromic intellectual disability	DISH7SDF	Supportive	Autosomal dominant	[1]

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

Drug Name	Drug ID	Highest Status	Interaction	REF
Valproate	DMCFE9I	Approved	Valproate increases the expression of Coiled-coil domain-containing protein 32 (CCDC32).	[2]
Ciclosporin	DMAZJFX	Approved	Ciclosporin increases the expression of Coiled-coil domain-containing protein 32 (CCDC32).	[3]
Bortezomib	DMNO38U	Approved	Bortezomib increases the expression of Coiled-coil domain-containing protein 32 (CCDC32).	[4]
Urethane	DM7NSI0	Phase 4	Urethane increases the expression of Coiled-coil domain-containing protein 32 (CCDC32).	[5]

References

• [1] Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. doi: 10.1093/hmg/ddaa073.
• [2] Human embryonic stem cell-derived test systems for developmental neurotoxicity: a transcriptomics approach. Arch Toxicol. 2013 Jan;87(1):123-43.
• [3] Comparison of HepG2 and HepaRG by whole-genome gene expression analysis for the purpose of chemical hazard identification. Toxicol Sci. 2010 May;115(1):66-79.
• [4] The proapoptotic effect of zoledronic acid is independent of either the bone microenvironment or the intrinsic resistance to bortezomib of myeloma cells and is enhanced by the combination with arsenic trioxide. Exp Hematol. 2011 Jan;39(1):55-65.
• [5] Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.