CFAP119 Gene

Name cilia and flagella associated protein 119
Description Predicted to act upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP119 (“Cilia and Flagella Associated Protein 119”) is a protein that, by virtue of its designation and the emerging view of ciliary proteomes, is anticipated to function as a structural or regulatory component of the microtubule‐based axoneme found in motile cilia. Recent cryo–electron tomography and proteomic studies have advanced our understanding of the complex protein assemblies that underlie ciliary assembly and motility, revealing a host of proteins that ensure both the integrity and the precise periodic organization of these organelles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Although CFAP119 has not been functionally characterized in depth, its inclusion in the broad group of cilia‐associated proteins suggests that it may contribute to the establishment or maintenance of ciliary structure and regulate the dynamics of ciliary beating. This notion is supported by studies of related axonemal components in systems such as sperm flagella, where disruption of key structural proteins leads to impaired motility and consequent reproductive defects."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, while several studies have focused on other cellular mechanisms—such as transcriptional regulation via distal enhancers"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", oncogenic and tumor–suppressive pathways in cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", and even rare genetic variants contributing to autoimmune conditions"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "or multiple myeloma"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "as well as the contribution of autozygosity to deleterious variation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "—the modular and evolutionarily conserved nature of ciliary proteins hints that CFAP119 could also intersect with broader cellular pathways. Although these other studies do not directly investigate CFAP119, the parallels between structural requirements for cellular motility and regulation underscore the potential for CFAP119 to be relevant in diverse biological contexts, including development and disease.\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Overall, further investigation is needed to delineate the precise molecular interactions and cellular pathways modulated by CFAP119. Such studies could clarify whether this protein functions solely as part of the ciliary apparatus or whether it also participates in other regulatory processes, thereby potentially contributing to pathophysiological states when misregulated.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anna Osinka, Martyna Poprzeczko, Magdalena M Zielinska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ciliary Proteins: Filling the Gaps. Recent Advances in Deciphering the Protein Composition of Motile Ciliary Complexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells8070730"}], "href": "https://doi.org/10.3390/cells8070730"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31319499"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31319499"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Terhi Iso-Touru, Christine Wurmser, Heli Venhoranta, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "An in vivo screen identifies ependymoma oncogenes and tumor-suppressor genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3323"}], "href": "https://doi.org/10.1038/ng.3323"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26075792"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26075792"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Maëva Veyssiere, Javier Perea, Laetitia Michou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0213387"}], "href": "https://doi.org/10.1371/journal.pone.0213387"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30845214"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30845214"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Molly Went, Ben Kinnersley, Amit Sud, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genomics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s40246-019-0231-5"}], "href": "https://doi.org/10.1186/s40246-019-0231-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31429796"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31429796"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Zachary A Szpiech, Angel C Y Mak, Marquitta J White, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2019.08.011"}], "href": "https://doi.org/10.1016/j.ajhg.2019.08.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31543216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31543216"}]}]}]}
NCBI Gene ID 90835
API
Download Associations
Predicted Functions View CFAP119's ARCHS4 Predicted Functions.
Co-expressed Genes View CFAP119's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CFAP119's ARCHS4 Predicted Functions.

Functional Associations

CFAP119 has 1,109 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 21 datasets.

Click the + buttons to view associations for CFAP119 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 CFAP119 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 CFAP119 gene from the CellMarker Gene-Cell Type Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with CFAP119 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of CFAP119 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing CFAP119 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing CFAP119 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 CFAP119 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing CFAP119 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of CFAP119 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of CFAP119 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with CFAP119 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by CFAP119 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of CFAP119 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 CFAP119 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of CFAP119 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of CFAP119 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of CFAP119 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of CFAP119 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of CFAP119 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 CFAP119 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 CFAP119 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.