CFAP206 Gene

Name cilia and flagella associated protein 206
Description Predicted to be involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP206 encodes a microtubule‐docking adapter that is essential for the proper assembly and stability of critical ciliary and flagellar structures. In spermatozoa, CFAP206 is required for anchoring components such as the radial spoke and inner dynein arm to the microtubule axoneme. Its normal function ensures flagellum integrity, contributing directly to effective sperm motility. Loss‐of‐function mutations or deletions in CFAP206 result in severe morphological and ultrastructural defects of the sperm flagellum, leading to impaired motility and male infertility in both human and mouse models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Additionally, in the context of chronic alcohol exposure in the developing brain, CFAP206 expression is upregulated alongside other genes associated with cilium movement, suggesting that its role in modulating ciliary function may extend beyond the reproductive system to influence neuronal processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Qunshan Shen, Guillaume Martinez, Hongbin Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-021-02313-z"}], "href": "https://doi.org/10.1007/s00439-021-02313-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34255152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34255152"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mi Ran Choi, Jasmin Sanghyun Han, Young Gyu Chai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression profiling in the hippocampus of adolescent rats after chronic alcohol administration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Basic Clin Pharmacol Toxicol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bcpt.13342"}], "href": "https://doi.org/10.1111/bcpt.13342"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31628824"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31628824"}]}]}]}
NCBI Gene ID 154313
API
Download Associations
Predicted Functions View CFAP206's ARCHS4 Predicted Functions.
Co-expressed Genes View CFAP206's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CFAP206's ARCHS4 Predicted Functions.

Functional Associations

CFAP206 has 1,105 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 20 datasets.

Click the + buttons to view associations for CFAP206 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 CFAP206 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 CFAP206 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of CFAP206 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing CFAP206 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with CFAP206 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with CFAP206 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving CFAP206 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing CFAP206 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of CFAP206 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of CFAP206 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with CFAP206 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by CFAP206 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of CFAP206 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 CFAP206 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of CFAP206 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of CFAP206 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of CFAP206 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of CFAP206 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 CFAP206 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 CFAP206 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.