Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTJ94J99)

DOT Name Cilia- and flagella-associated protein 410 (CFAP410)
Synonyms C21orf-HUMF09G8.5; Leucine-rich repeat-containing protein 76; YF5/A2
Gene Name CFAP410
Related Disease
Axial spondylometaphyseal dysplasia ( )
Cone-rod dystrophy 2 ( )
Alzheimer disease ( )
Amyotrophic lateral sclerosis-parkinsonism-dementia complex ( )
Ciliopathy ( )
Inherited retinal dystrophy ( )
Jeune syndrome ( )
Obesity ( )
Pyle disease ( )
Retinitis pigmentosa ( )
Autoimmune polyendocrine syndrome type 1 ( )
Amyotrophic lateral sclerosis ( )
Cone-rod dystrophy ( )
UniProt ID
CF410_HUMAN
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
PDB ID
8AXR
Sequence
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSR
CQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQK
LDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEE
ATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG
SRLQALRGEEVQEHAE
Function Plays a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair.
Tissue Specificity Widely expressed . Expressed in the retina .

Molecular Interaction Atlas (MIA) of This DOT

13 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Axial spondylometaphyseal dysplasia DIS7LN0X Definitive Autosomal recessive [1]
Cone-rod dystrophy 2 DISX2RWY Definitive Biomarker [2]
Alzheimer disease DISF8S70 Strong Altered Expression [3]
Amyotrophic lateral sclerosis-parkinsonism-dementia complex DISTHQI1 Strong Biomarker [4]
Ciliopathy DIS10G4I Strong Genetic Variation [5]
Inherited retinal dystrophy DISGGL77 Strong Genetic Variation [5]
Jeune syndrome DISLC357 Strong Genetic Variation [6]
Obesity DIS47Y1K Strong Genetic Variation [5]
Pyle disease DISJ2YQ3 Strong Genetic Variation [1]
Retinitis pigmentosa DISCGPY8 Strong Biomarker [2]
Autoimmune polyendocrine syndrome type 1 DISWJP8J moderate Biomarker [7]
Amyotrophic lateral sclerosis DISF7HVM Supportive Autosomal dominant [4]
Cone-rod dystrophy DISY9RWN Supportive Autosomal dominant [8]
------------------------------------------------------------------------------------
⏷ Show the Full List of 13 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
2 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate increases the methylation of Cilia- and flagella-associated protein 410 (CFAP410). [9]
PMID28870136-Compound-52 DMFDERP Patented PMID28870136-Compound-52 decreases the phosphorylation of Cilia- and flagella-associated protein 410 (CFAP410). [10]
------------------------------------------------------------------------------------

References

1 Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.
2 Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63. doi: 10.1167/iovs.16-19450.
3 Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain.J Neural Transm Suppl. 2003;(67):117-28. doi: 10.1007/978-3-7091-6721-2_10.
4 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.
5 C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.Br J Ophthalmol. 2015 Dec;99(12):1725-31. doi: 10.1136/bjophthalmol-2015-307277. Epub 2015 Aug 20.
6 Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19.
7 Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.Genomics. 1998 Jan 1;47(1):64-70. doi: 10.1006/geno.1997.5066.
8 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.
9 Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
10 Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.