Details of Drug Off-Target (DOT)

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

DOT Name Coiled-coil domain-containing protein 39 (CCDC39)
Gene Name CCDC39
Related Disease
Primary ciliary dyskinesia 14 ( )
Schizophrenia ( )
Acute myelogenous leukaemia ( )
Primary ciliary dyskinesia ( )
Hydrocephalus ( )
UniProt ID
CCD39_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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PDB ID
8J07
Sequence
MSSEFLAELHWEDGFAIPVANEENKLLEDQLSKLKDERASLQDELREYEERINSMTSHFK
NVKQELSITQSLCKARERETESEEHFKAIAQRELGRVKDEIQRLENEMASILEKKSDKEN
GIFKATQKLDGLKCQMNWDQQALEAWLEESAHKDSDALTLQKYAQQDDNKIRALTLQLER
LTLECNQKRKILDNELTETISAQLELDKAAQDFRKIHNERQELIKQWENTIEQMQKRDGD
IDNCALELARIKQETREKENLVKEKIKFLESEIGNNTEFEKRISVADRKLLKCRTAYQDH
ETSRIQLKGELDSLKATVNRTSSDLEALRKNISKIKKDIHEETARLQKTKNHNEIIQTKL
KEITEKTMSVEEKATNLEDMLKEEEKDVKEVDVQLNLIKGVLFKKAQELQTETMKEKAVL
SEIEGTRSSLKHLNHQLQKLDFETLKQQEIMYSQDFHIQQVERRMSRLKGEINSEEKQAL
EAKIVELRKSLEEKKSTCGLLETQIKKLHNDLYFIKKAHSKNSDEKQSLMTKINELNLFI
DRSEKELDKAKGFKQDLMIEDNLLKLEVKRTREMLHSKAEEVLSLEKRKQQLYTAMEERT
EEIKVHKTMLASQIRYVDQERENISTEFRERLSKIEKLKNRYEILTVVMLPPEGEEEKTQ
AYYVIKAAQEKEELQREGDCLDAKINKAEKEIYALENTLQVLNSCNNNYKQSFKKVTPSS
DEYELKIQLEEQKRAVDEKYRYKQRQIRELQEDIQSMENTLDVIEHLANNVKEKLSEKQA
YSFQLSKETEEQKPKLERVTKQCAKLTKEIRLLKDTKDETMEEQDIKLREMKQFHKVIDE
MLVDIIEENTEIRIILQTYFQQSGLELPTASTKGSRQSSRSPSHTSLSARSSRSTSTSTS
QSSIKVLELKFPASSSLVGSPSRPSSASSSSSNVKSKKSSK
Function
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella. Not required for outer dynein arm complexes assembly.
Tissue Specificity Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.

Molecular Interaction Atlas (MIA) of This DOT

5 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Primary ciliary dyskinesia 14 DISK08Y8 Definitive Autosomal recessive [1]
Schizophrenia DISSRV2N Strong Genetic Variation [2]
Acute myelogenous leukaemia DISCSPTN moderate Genetic Variation [3]
Primary ciliary dyskinesia DISOBC7V Supportive Autosomal dominant [4]
Hydrocephalus DISIZUF7 Limited Genetic Variation [5]
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Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
3 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 39 (CCDC39). [6]
Urethane DM7NSI0 Phase 4 Urethane decreases the expression of Coiled-coil domain-containing protein 39 (CCDC39). [7]
Trichostatin A DM9C8NX Investigative Trichostatin A increases the expression of Coiled-coil domain-containing protein 39 (CCDC39). [8]
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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 Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.Nature. 2009 Aug 6;460(7256):748-52. doi: 10.1038/nature08185. Epub 2009 Jul 1.
3 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.Oncotarget. 2017 Jan 31;8(5):7891-7899. doi: 10.18632/oncotarget.13631.
4 Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2019 Dec 5]. 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.
5 A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.Development. 2018 Jan 9;145(1):dev154500. doi: 10.1242/dev.154500.
6 Stem cell transcriptome responses and corresponding biomarkers that indicate the transition from adaptive responses to cytotoxicity. Chem Res Toxicol. 2017 Apr 17;30(4):905-922.
7 Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
8 From transient transcriptome responses to disturbed neurodevelopment: role of histone acetylation and methylation as epigenetic switch between reversible and irreversible drug effects. Arch Toxicol. 2014 Jul;88(7):1451-68.