| Name | cilia and flagella associated protein 300 |
| Description | Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP300, also known as C11orf70, is a highly conserved protein that plays an essential role in the cytoplasmic preassembly of axonemal dynein arms—both the outer (ODA) and inner (IDA) types—which are critical for the motility of respiratory cilia and sperm flagella."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Expression studies have shown that CFAP300 is upregulated during ciliogenesis in ciliated respiratory cells, and its proper function is required for the assembly of dynein arms; loss‐of‐function mutations in CFAP300 result in the combined loss of ODAs and IDAs, leading to immotile cilia and sperm flagella. These defects manifest clinically as primary ciliary dyskinesia (PCD) and are associated with male infertility, laterality defects, and airway disease. In addition, transcriptomic analyses in testicular germ cell tumors have revealed that C11orf70 is underexpressed, suggesting that alterations in its expression may be linked to broader pathological conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Inga M Höben, Rim Hjeij, Heike Olbrich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.03.025"}], "href": "https://doi.org/10.1016/j.ajhg.2018.03.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29727693"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29727693"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.03.024"}], "href": "https://doi.org/10.1016/j.ajhg.2018.03.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29727692"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29727692"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Isabella Aprea, Johanna Raidt, Inga Marlena Höben, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1009306"}], "href": "https://doi.org/10.1371/journal.pgen.1009306"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33635866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33635866"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sharmini Alagaratnam, Jayne R Hardy, Ragnhild A Lothe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TPD52, a candidate gene from genomic studies, is overexpressed in testicular germ cell tumours."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Endocrinol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mce.2008.10.043"}], "href": "https://doi.org/10.1016/j.mce.2008.10.043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19041365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19041365"}]}]}]}
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| NCBI Gene ID | 85016 |
| 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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CFAP300 has 872 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 23 datasets.
Click the + buttons to view associations for CFAP300 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 CFAP300 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 CFAP300 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with CFAP300 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of CFAP300 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing CFAP300 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CFAP300 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving CFAP300 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CFAP300 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 CFAP300 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing CFAP300 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of CFAP300 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with CFAP300 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by CFAP300 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of CFAP300 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 CFAP300 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of CFAP300 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CFAP300 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of CFAP300 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CFAP300 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CFAP300 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CFAP300 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CFAP300 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with CFAP300 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
