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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYCBPAP
MYCBP associated protein
Chromosome 17 · 17q21.33
NCBI Gene: 84073Ensembl: ENSG00000136449.16HGNC: HGNC:19677UniProt: C9JXR6
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spermatogenesisprotein bindingcytoplasmacrosome assemblyplacenta praevianeoplasmgastric cancercancer
✦AI Summary

MYCBPAP is a central apparatus protein essential for male fertility and spermatogenesis. Primarily localized to the central apparatus of the sperm flagellar axoneme, specifically at the base of the C2a projection 1, MYCBPAP functions as a structural component required for centrosome-nuclear envelope docking during spermiogenesis 2. This docking is critical for proper sperm tail biogenesis and flagellar elongation 2. MYCBPAP also regulates acrosome biogenesis, manchette organization, and spermatid head morphogenesis 3. Mechanistically, MYCBPAP interacts with central apparatus proteins CFAP65 and CFAP70, which form the C2a projection 12, and associates with ribosome elimination protein ARMC3 and centrosome protein CCP110 2. Homozygous deleterious variants in MYCBPAP cause asthenoteratozoospermia, characterized by abnormal sperm morphology and reduced motility due to disrupted acrosome biogenesis and flagellar defects 3. Three human cases and a Mycbpap knockout mouse model demonstrate that MYCBPAP mutations result in male infertility with significantly downregulated spermatogenesis-related proteins 3. Clinical significance includes using MYCBPAP variants as genetic diagnostic indicators for infertile men with asthenoteratozoospermia, though intracytoplasmic sperm injection can partially overcome associated infertility 3.

Sources cited
1
Homozygous MYCBPAP variants cause asthenoteratozoospermia with abnormal acrosome, manchette, and flagellar defects; describes human cases and Mycbpap-/- mouse model with reduced fertility
PMID: 39704931
2
MYCBPAP is a central apparatus protein required for centrosome-nuclear envelope docking and sperm tail biogenesis; identifies interactions with CFAP65, CFAP70, and CCP110
PMID: 39092789
3
MYCBPAP (FAP147 in Chlamydomonas) is a component of the C2a projection of the central apparatus, interacting with FAP65 and FAP70
PMID: 33988244
4
MYCBPAP identified as a motile cilia-associated gene through transcriptional signature analysis across tissues with motile ciliated cells
PMID: 32616903
5
MYCBPAP interacts with CFAP65 at the C2a projection base; loss of C2a projection integrity leads to sperm flagellar defects and infertility
PMID: 39853433
Disease Associationsⓘ20
placenta praeviaOpen Targets
0.19Weak
neoplasmOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.03Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
head and neck malignant neoplasiaOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
tongue squamous cell carcinomaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
infertilityOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
Testicular Germ Cell TumorOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKAP1Protein interaction98%MYCBPProtein interaction98%GPIProtein interaction96%GAPDHProtein interaction94%CSTF3Protein interaction91%ENO2Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
51%
Heart
9%
Lung
9%
Brain
6%
Liver
3%
Gene Interaction Network
Click a node to explore
MYCBPAPAKAP1MYCBPGPIGAPDHCSTF3ENO2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TBZ2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.69]
RankingsWhere MYCBPAP stands among ~20K protein-coding genes
  • #15,063of 20,598
    Most Researched17
  • #5,212of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedMYCBPAP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
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
1.00
2
Identification of Specific LncRNA Markers in Severe Tuberculosis for Early Diagnosis.
PMID: 40979936
Infect Drug Resist · 2025
0.90
3
MYCBPAP is a central apparatus protein required for centrosome-nuclear envelope docking and sperm tail biogenesis in mice.
PMID: 39092789
J Cell Sci · 2024
0.80
4
The transcriptional signature associated with human motile cilia.
PMID: 32616903
Sci Rep · 2020
0.70
5
Chlamydomonas FAP70 is a component of the previously uncharacterized ciliary central apparatus projection C2a.
PMID: 33988244
J Cell Sci · 2021
0.60