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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CFAP298
cilia and flagella associated protein 298
Chromosome 21 Β· 21q22.11
NCBI Gene: 56683Ensembl: ENSG00000159079.19HGNC: HGNC:1301UniProt: C9J818
35PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusregulation of cilium movementcilium assemblyprotein bindingprimary ciliary dyskinesiavisceral heterotaxyHeterotaxyovarian dysfunction
✦AI Summary

CFAP298 is a highly conserved protein essential for motile cilium function, primarily by mediating cytoplasmic preassembly and stabilization of dynein arm complexes 1. The protein contains a unique ubiquitin-like domain that facilitates interactions between dynein heavy chains, molecular chaperones, and other preassembly factors 1. CFAP298 functions in folding and stabilization of nearly all axonemal dyneins independent of the canonical R2TP complex 2. Beyond dynein assembly, CFAP298 plays a critical role in left-right axis establishment during embryonic development, operating at the level of cilia motility rather than planar cell polarity positioning 3. Mutations in CFAP298 cause primary ciliary dyskinesia 26 with laterality defects including situs inversus and abnormal cardiac positioning 4. Clinically, CFAP298 deficiency results in immotile or poorly beating cilia throughout the body, disrupted cerebrospinal fluid circulation causing spine deformities resembling adolescent idiopathic scoliosis 5, and developmental abnormalities in left-right patterning with altered Nodal, Pitx2, and Lefty1 signaling 3. The protein's specialized architecture and ubiquitin-like domain distinguish it as a critical preassembly factor rather than maintenance factor for ciliary function.

Sources cited
1
CFAP298 (FBB18 ortholog) functions in cytoplasmic preassembly of dynein complexes, containing a ubiquitin-like domain essential for mediating interactions between dynein heavy chains, chaperones, and preassembly factors
PMID: 40106351
2
FBB18/CFAP298 localizes to cytoplasm and functions in folding/stabilization of almost all axonemal dyneins at early preassembly steps, independent of holo-R2TP complex
PMID: 36026524
3
CFAP298 is required for left-right axis establishment in mice, functioning at the level of cilia motility to generate leftward nodal flow, with mutations causing organ laterality defects and abnormal Nodal/Pitx2/Lefty1 expression
PMID: 40955177
4
CFAP298 mutations identified in patients with laterality disorders and congenital heart defects associated with primary ciliary dyskinesia
PMID: 34215651
5
cfap298 mutants develop scoliotic spine deformities resembling adolescent idiopathic scoliosis due to defective cilia motility affecting cerebrospinal fluid flow
PMID: 33795825
6
cfap298 mutants show reduced cilia motility that slows cerebrospinal fluid transport and affects mechanosensory neuron function contributing to spine curvature defects
PMID: 30228263
7
CFAP298 contains a ubiquitin-like domain previously difficult to detect due to large sequence insertions within it
PMID: 34139218
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.66Moderate
HeterotaxyOpen Targets
0.33Weak
visceral heterotaxyOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.30Weak
genetic disorderOpen Targets
0.16Weak
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
obstructive sleep apneaOpen Targets
0.02Suggestive
Down syndromeOpen Targets
0.01Suggestive
hypertensionOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
ciliopathyOpen Targets
0.00Suggestive
HydrocephalusOpen Targets
0.00Suggestive
obstructive hydrocephalusOpen Targets
0.00Suggestive
insomniaOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
Ciliary dyskinesia, primary, 26UniProt
Pathogenic Variants12
NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)Pathogenic
not provided|Primary ciliary dyskinesia 26
β˜…β˜…β˜†β˜†2026β†’ Residue 225
NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)Pathogenic
Primary ciliary dyskinesia 26|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 245
NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)Pathogenic
Primary ciliary dyskinesia 26|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 190
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)Pathogenic
Primary ciliary dyskinesia 26|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 98
NM_021254.4(CFAP298):c.688C>T (p.Arg230Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 230
NM_021254.4(CFAP298):c.439C>T (p.Arg147Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 147
NM_021254.4(CFAP298):c.437_446del (p.Leu146fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 146
NM_021254.4(CFAP298):c.168_171dup (p.Leu58fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 58
NM_021254.4(CFAP298):c.534+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter)Pathogenic
Primary ciliary dyskinesia 26
β˜…β˜†β˜†β˜†β†’ Residue 241
NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp)Pathogenic
Heterotaxy
β˜†β˜†β˜†β˜†2021β†’ Residue 103
NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)Pathogenic
Primary ciliary dyskinesia 26
β˜†β˜†β˜†β˜†2013β†’ Residue 263
View on ClinVar β†—
Related Genes
CIBAR2Shared pathway100%CFAP184Shared pathway100%HYLS1Shared pathway100%LRRC45Shared pathway100%WDR90Shared pathway100%PTPDC1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
62%
Ovary
60%
Lung
45%
Bone Marrow
31%
Heart
31%
Gene Interaction Network
Click a node to explore
CFAP298CIBAR2CFAP184HYLS1LRRC45WDR90PTPDC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P57076
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.71–1.27]
RankingsWhere CFAP298 stands among ~20K protein-coding genes
  • #10,934of 20,598
    Most Researched35
  • #2,705of 5,498
    Most Pathogenic Variants12
  • #13,369of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCFAP298
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A conserved domain of Cfap298 governs left-right symmetry breaking in vertebrates.
PMID: 40955177
J Cell Sci Β· 2025
1.00
2
PMID: 40106351
Proc Natl Acad Sci U S A Β· 2025
0.90
3
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
PMID: 34215651
J Med Genet Β· 2022
0.80
4
FBB18 participates in preassembly of almost all axonemal dyneins independent of R2TP complex.
PMID: 36026524
PLoS Genet Β· 2022
0.70
5
A Conserved Domain of
PMID: 40463022
bioRxiv Β· 2025
0.60