| Name | cilia and flagella associated protein 65 |
| Description | The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP65 (cilia and flagella associated protein 65) has been demonstrated to play critical roles in both intracellular signaling and spermiogenesis. In gastric cancer cells, for example, depletion of mitochondrial transcription factor A (TFAM) induces CFAP65 expression as part of a calcium‐mediated retrograde signaling pathway that affects cell morphology and proliferation; notably, knockdown of CFAP65 can rescue these cellular defects."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the context of male fertility, genetic studies using both human patients and mouse knockout models have revealed that loss‐of-function mutations in CFAP65 cause severe asthenoteratospermia. Disruption of CFAP65 leads to multiple morphological abnormalities of the sperm flagella (MMAF), characterized by defects in sperm head shaping, acrosome biogenesis, manchette organization, and mitochondrial sheath assembly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Exome sequencing in affected individuals has identified homozygous pathogenic mutations in CFAP65 that underlie defective flagellum structure and impaired sperm motility"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", and additional studies have confirmed that such mutations compromise the assembly of the sperm flagellum, ultimately leading to male infertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Woo Rin Lee, Heeju Na, Seon Woo Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptomic analysis of mitochondrial TFAM depletion changing cell morphology and proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-017-18064-9"}], "href": "https://doi.org/10.1038/s41598-017-18064-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29259235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29259235"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Weili Wang, Shixong Tian, Hongchuan Nie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddab185"}], "href": "https://doi.org/10.1093/hmg/ddab185"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34231842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34231842"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Chuan Jiang, Xue-Guang Zhang, Xiang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Homozygous CFAP65 mutation induces multiple morphological abnormalities of sperm flagella: A preliminary genetic study]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Nan Ke Xue (2021)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34914225"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34914225"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xueguang Zhang, Ying Shen, Xiang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13644"}], "href": "https://doi.org/10.1111/cge.13644"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31571197"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31571197"}]}]}]}
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| NCBI Gene ID | 255101 |
| 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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CFAP65 has 1,351 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 27 datasets.
Click the + buttons to view associations for CFAP65 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 CFAP65 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 CFAP65 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CFAP65 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of CFAP65 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing CFAP65 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CFAP65 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by CFAP65 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CFAP65 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 CFAP65 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with CFAP65 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with CFAP65 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing CFAP65 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing CFAP65 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by CFAP65 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of CFAP65 gene from the GTEx eQTL 2025 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with CFAP65 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 CFAP65 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 CFAP65 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by CFAP65 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of CFAP65 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of CFAP65 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of CFAP65 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CFAP65 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CFAP65 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CFAP65 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 CFAP65 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 CFAP65 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
