| Name | cilia and flagella associated protein 410 |
| Description | Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP410 (also known as C21orf2) is a nuclear‐encoded protein that plays a critical role in ciliary function and cellular homeostasis. Genetic studies have linked CFAP410 with neurodegenerative disorders such as amyotrophic lateral sclerosis, suggesting that it contributes to proper neuronal function and cytoskeletal integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, CFAP410 has been implicated in the cellular response to DNA damage, acting in concert with factors such as NEK1 to facilitate homologous recombination repair."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Mutations in CFAP410 have been associated with a spectrum of ciliopathies that affect skeletal development—including axial spondylometaphyseal dysplasia—and retinal dystrophies, thereby underscoring its importance in chondrocyte differentiation and photoreceptor ciliary maintenance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Functional studies in patient-derived cells and animal models further support that aberrant CFAP410 compromises cilia formation and disrupts the stability and localization of key photoreceptor proteins, which likely contributes to retinal degeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, reanalysis of exome data in severe skeletal phenotypes reinforces the significance of CFAP410 in ciliary signaling, while observations of reduced CFAP410 levels in Down syndrome brains hint at additional roles in mitochondrial and cellular function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3622"}], "href": "https://doi.org/10.1038/ng.3622"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27455348"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27455348"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xiao Fang, Han Lin, Xiaohui Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Biochim Biophys Sin (Shanghai) (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/abbs/gmv076"}], "href": "https://doi.org/10.1093/abbs/gmv076"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26290490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26290490"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Zheng Wang, Aritoshi Iida, Noriko Miyake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0150555"}], "href": "https://doi.org/10.1371/journal.pone.0150555"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26974433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26974433"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Arif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Ophthalmol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/bjophthalmol-2015-307277"}], "href": "https://doi.org/10.1136/bjophthalmol-2015-307277"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26294103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26294103"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Akiko Suga, Atsushi Mizota, Mitsuhiro Kato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.16-19450"}], "href": "https://doi.org/10.1167/iovs.16-19450"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27548899"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27548899"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aideen M McInerney-Leo, Lawrie Wheeler, Mhairi S Marshall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38215"}], "href": "https://doi.org/10.1002/ajmg.a.38215"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28422394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28422394"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "K S Shim, J M Bergelson, M Furuse, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm Suppl (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/978-3-7091-6721-2_10"}], "href": "https://doi.org/10.1007/978-3-7091-6721-2_10"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15068244"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15068244"}]}]}]}
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| NCBI Gene ID | 755 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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CFAP410 has 1,517 functional associations with biological entities spanning 6 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 31 datasets.
Click the + buttons to view associations for CFAP410 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CFAP410 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with CFAP410 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CFAP410 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with CFAP410 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing CFAP410 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing CFAP410 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing CFAP410 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CFAP410 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of CFAP410 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by CFAP410 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving CFAP410 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CFAP410 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with CFAP410 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving CFAP410 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving CFAP410 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing CFAP410 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of CFAP410 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of CFAP410 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with CFAP410 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of CFAP410 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of CFAP410 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of CFAP410 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of CFAP410 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CFAP410 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CFAP410 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CFAP410 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CFAP410 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CFAP410 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CFAP410 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with CFAP410 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving CFAP410 protein from the WikiPathways Pathways 2024 dataset. | |
