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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CFAP45
cilia and flagella associated protein 45
Chromosome 1 Β· 1q23.2
NCBI Gene: 25790Ensembl: ENSG00000213085.10HGNC: HGNC:17229UniProt: Q9UL16
28PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingAMP bindingflagellated sperm motilityestablishment of left/right asymmetryheterotaxy, visceral, 9, autosomal, with male infertilitysitus inversusMale infertility due to sperm motility disorderneutropenia
✦AI Summary

CFAP45 is a microtubule inner protein (MIP) component of dynein-decorated doublet microtubules in the ciliary axoneme, essential for motile cilia and flagellar beating 1. As an AMP-binding protein, CFAP45 facilitates dynein ATPase-dependent ciliary beating by maintaining adenine nucleotide homeostasis, functioning as an AMP donor to adenylate kinase 8 (AK8) to promote ADP production 2. CFAP45 localizes in a punctate static position within the axoneme and is required for cilia stability; depletion leads to cilia bulging, loss of stability, and eventual detachment from the apical surface 3. Functionally, CFAP45 interacts with CFAP52 in sperm flagella to support microtubule sliding and motility 4. Clinically, CFAP45 mutations cause heterotaxy with congenital heart disease and asthenospermia (reduced sperm motility) 23. During embryonic development, CFAP45 is critical for left-right patterning through proper monociliary function at the Left-Right Organizer 3. Beyond ciliary function, CFAP45 methylation patterns have been identified as biomarkers in endometrial stromal tumors and showed altered methylation in PTSD patients undergoing successful treatment, suggesting broader epigenetic roles 56.

Sources cited
1
CFAP45 is a microtubule inner protein required for motile cilia beating
PMID: 36191189
2
CFAP45 binds AMP and supports adenine nucleotide homeostasis module with dynein ATPases and AK8; CFAP45 deficiency causes situs inversus totalis and asthenospermia
PMID: 33139725
3
CFAP45 is required for cilia stability in monociliated and multiciliated cells; CFAP45 mutations cause heterotaxy and congenital heart disease; depletion causes cilia bulges and loss of stability
PMID: 37172641
4
CFAP45 interacts with CFAP52 in sperm flagellum to support microtubule sliding and sperm motility
PMID: 37236356
5
CFAP45 shows similar methylation patterns in high-grade endometrial stromal sarcoma and undifferentiated uterine sarcomas
PMID: 40403211
6
CFAP45 methylation changes are associated with PTSD symptom reduction following successful treatment
PMID: 31645664
Disease Associationsβ“˜21
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.66Moderate
situs inversusOpen Targets
0.37Weak
Male infertility due to sperm motility disorderOpen Targets
0.37Weak
neutropeniaOpen Targets
0.19Weak
Decreased total leukocyte countOpen Targets
0.19Weak
nasopharyngeal carcinomaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
primary ciliary dyskinesiaOpen Targets
0.06Suggestive
HeterotaxiaOpen Targets
0.06Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.04Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.04Suggestive
visceral heterotaxyOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 51Open Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
DextrocardiaOpen Targets
0.03Suggestive
Ivemark syndromeOpen Targets
0.03Suggestive
right atrial isomerismOpen Targets
0.03Suggestive
ciliary dyskinesia, primary, 49, without situs inversusOpen Targets
0.03Suggestive
ciliary dyskinesia, primary, 53Open Targets
0.03Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.03Suggestive
Heterotaxy, visceral, 11, autosomal, with male infertilityUniProt
Pathogenic Variants4
NM_012337.3(CFAP45):c.721C>T (p.Gln241Ter)Pathogenic
Heterotaxy, visceral, 11, autosomal, with male infertility
β˜†β˜†β˜†β˜†2021β†’ Residue 241
NM_012337.3(CFAP45):c.907C>T (p.Arg303Ter)Pathogenic
Heterotaxy, visceral, 11, autosomal, with male infertility
β˜†β˜†β˜†β˜†2021β†’ Residue 303
NM_012337.3(CFAP45):c.452_464del (p.Gln151fs)Pathogenic
Heterotaxy, visceral, 11, autosomal, with male infertility
β˜†β˜†β˜†β˜†2021β†’ Residue 151
NM_012337.3(CFAP45):c.1472_1477delinsT (p.Gln491fs)Pathogenic
Heterotaxy, visceral, 11, autosomal, with male infertility
β˜†β˜†β˜†β˜†2021β†’ Residue 491
View on ClinVar β†—
Related Genes
EFHC2Protein interaction91%TEKT1Protein interaction91%TUBA1AProtein interaction91%TUBB4BProtein interaction91%SPACA9Protein interaction91%TEKT2Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
90%
Brain
30%
Ovary
15%
Heart
8%
Liver
3%
Gene Interaction Network
Click a node to explore
CFAP45EFHC2TEKT1TUBA1ATUBB4BSPACA9TEKT2
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG Β· 3.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.43–0.71]
RankingsWhere CFAP45 stands among ~20K protein-coding genes
  • #12,328of 20,598
    Most Researched28
  • #3,838of 5,498
    Most Pathogenic Variants4
  • #5,483of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedCFAP45
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations.
PMID: 26928227
Nat Genet Β· 2016
1.00
2
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
PMID: 37172641
Dev Biol Β· 2023
0.90
3
Molecular Landscape of Endometrial Stromal Tumors.
PMID: 40403211
JCO Precis Oncol Β· 2025
0.80
4
The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
PMID: 37236356
J Biol Chem Β· 2023
0.70
5
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
PMID: 33139725
Nat Commun Β· 2020
0.60