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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CFAP70
cilia and flagella associated protein 70
Chromosome 10 · 10q22.2
NCBI Gene: 118491Ensembl: ENSG00000156042.19HGNC: HGNC:30726UniProt: A0A087WSW1
16PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
outer dynein armciliary basal bodysperm flagellumextracellular exosomespermatogenic failure 41non-syndromic male infertility due to sperm motility disorderazoospermiaspermatogenic failure 65
✦AI Summary

CFAP70 (cilia and flagella associated protein 70) is an axoneme-binding protein essential for ciliary motility regulation and flagellar biogenesis. As a component of the central apparatus C2a projection 1, CFAP70 anchors at the base of the C2a projection and interacts with CFAP65 and MYCBPAP to maintain axonemal structure 2. During spermiogenesis, CFAP70 stabilizes QRICH2, promotes cytoplasmic preassembly of CFAP61 and CFAP91, and regulates manchette localization of axoneme-associated proteins including IFT88, DNAI1, and CFAP61 3. CFAP70 deficiency causes multiple morphological abnormalities of the flagella (MMAF), characterized by club-shaped sperm heads, abnormal flagellum biogenesis, and manchette disassembly 4. Loss of CFAP70 reduces outer dynein arm (ODA) markers and central pair complex components, impairing both flagellar assembly and stability 5. Biallelic CFAP70 mutations lead to severe astheno-teratozoospermia and male infertility classified as spermatogenic failure 41 35. CFAP70-associated infertility can be partially overcome through intracytoplasmic sperm injection (ICSI), making CFAP70 a valuable diagnostic target for male infertility with oligo-astheno-teratozoospermia 3.

Sources cited
1
CFAP70 loss leads to MMAF, spermiogenesis defects, club-shaped sperm heads, abnormal manchette disassembly, and impaired flagellum biogenesis
PMID: 37458246
2
CFAP70 mutations cause severe astheno-teratozoospermia and MMAF; CFAP70 is an ODA regulator; loss of CFAP70 affects ODA and central pair complex assembly
PMID: 31621862
3
Cfap70-KO mice are sterile with OAT phenotype; CFAP70 required for flagella biogenesis by regulating QRICH2, manchette localization, and axoneme-related proteins; ICSI can overcome CFAP70-associated infertility
PMID: 37352829
4
CFAP65 interacts with CFAP70 at the C2a projection base; CFAP70 and MYCBPAP are C2a projection components
PMID: 39853433
5
FAP70 (CFAP70 homolog) locates at the base of the C2a projection; FAP70, FAP65, and FAP147 are the first defining components of the C2a projection
PMID: 33988244
6
MYCBPAP interacts with CFAP65 and CFAP70 as central apparatus C2a projection components
PMID: 39092789
Disease Associationsⓘ21
spermatogenic failure 41Open Targets
0.40Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
spermatogenic failure 58Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
spermatogenic failure 40Open Targets
0.08Suggestive
spermatogenic failure 76Open Targets
0.08Suggestive
spermatogenic failure 80Open Targets
0.08Suggestive
spermatogenic failure 47Open Targets
0.08Suggestive
spermatogenic failure 54Open Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
Spermatogenic failure 41UniProt
Pathogenic Variants1
NM_001367801.1(CFAP70):c.1723-1G>TPathogenic
Spermatogenic failure 41
☆☆☆☆2019
View on ClinVar ↗
Related Genes
DNAH5Protein interaction92%DNAH8Protein interaction92%DNAH17Protein interaction92%DNAH1Protein interaction92%DNAI1Protein interaction92%DNAH3Protein interaction92%
Tissue Expression6 tissues
Ovary
100%
Liver
77%
Bone Marrow
49%
Lung
49%
Heart
35%
Brain
34%
Gene Interaction Network
Click a node to explore
CFAP70DNAH5DNAH8DNAH17DNAH1DNAI1DNAH3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5T0N1
View on AlphaFold ↗
RankingsWhere CFAP70 stands among ~20K protein-coding genes
  • #15,225of 20,598
    Most Researched16
  • #5,418of 5,498
    Most Pathogenic Variants1
Genes detectedCFAP70
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Experimental and molecular support for Cfap70 as a causative gene of 'multiple morphological abnormalities of the flagella' with male infertility†.
PMID: 37458246
Biol Reprod · 2023
1.00
2
CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
PMID: 31621862
Hum Reprod · 2019
0.90
3
Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.
PMID: 39704931
Sci China Life Sci · 2025
0.80
4
CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men.
PMID: 37352829
EBioMedicine · 2023
0.70
5
CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.
PMID: 39853433
Cell Mol Life Sci · 2025
0.60