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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC42
coiled-coil domain containing 42
Chromosome 17 · 17p13.1
NCBI Gene: 146849Ensembl: ENSG00000161973.12HGNC: HGNC:26528UniProt: Q96M95
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsperm head-tail coupling apparatusmanchettesperm principal piecenevushamartomanon-neoplastic nevusazoospermia
✦AI Summary

CCDC42 (coiled-coil domain containing 42) is essential for male fertility through its critical role in sperm development and flagellum biogenesis. During spermiogenesis, CCDC42 localizes to the manchette and sperm tail, where it functions in the head-tail coupling apparatus (HTCA) development 1. The protein interacts with multiple partners including CFAP58, IFT88, and ODF2 to facilitate intraflagellar transport and proper cargo delivery during flagellar assembly 2. Loss-of-function mutations in Ccdc42 result in profound male infertility characterized by abnormal HTCA formation, lack of flagellated sperm, malformed flagella, and azoospermia in mice 1. CCDC42's testis-enriched expression pattern, with minimal expression outside the brain and developing sperm, makes it an ideal candidate for screening human male infertility cases caused by azoospermia 1. Beyond reproductive biology, CCDC42 variants have been associated with heroin addiction susceptibility in Han Chinese populations 3 and identified as genetic risk factors in triple-negative breast cancer in Indian populations 4, suggesting broader biological roles. Population-specific DNA methylation patterns at CCDC42 loci have been identified between African and European ancestry populations with potential disease relevance 5.

Sources cited
1
CCDC42 is necessary for sperm head-tail coupling apparatus development, flagellum formation, and male fertility; mutations cause azoospermia
PMID: 26945718
2
CCDC42 interacts with CFAP58 and IFT88 in the intraflagellar transport pathway for sperm flagellar biogenesis and manchette structure maintenance
PMID: 38602507
3
CCDC42 variants are associated with heroin dependence susceptibility in Han Chinese population
PMID: 27936112
4
CCDC42 SNP (exm1292477) identified as significant genetic predictor for triple-negative breast cancer risk
PMID: 28918577
5
CCDC42 exhibits population-specific DNA methylation patterns between African and European ancestry populations
PMID: 41224710
Disease Associationsⓘ20
hamartomaOpen Targets
0.32Weak
nevusOpen Targets
0.32Weak
non-neoplastic nevusOpen Targets
0.28Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 20Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FNDC3AShared pathway100%OSBP2Shared pathway100%IQCNShared pathway100%TSSK1BShared pathway100%ZMYND15Shared pathway100%CCDC159Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
38%
Liver
31%
Ovary
8%
Brain
4%
Heart
0%
Gene Interaction Network
Click a node to explore
CCDC42FNDC3AOSBP2IQCNTSSK1BZMYND15CCDC159
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96M95
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.71–1.22]
RankingsWhere CCDC42 stands among ~20K protein-coding genes
  • #14,661of 20,598
    Most Researched18
  • #12,871of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedCCDC42
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
CCDC38 is required for sperm flagellum biogenesis and male fertility in mice.
PMID: 35587122
Development · 2022
1.00
2
CFAP58 is involved in the sperm head shaping and flagellogenesis of cattle and mice.
PMID: 38602507
Development · 2024
0.83
3
Coiled-coil domain containing 42 (Ccdc42) is necessary for proper sperm development and male fertility in the mouse.
PMID: 26945718
Dev Biol · 2016
0.67
4
Genome-Wide Association of Heroin Dependence in Han Chinese.
PMID: 27936112
PLoS One · 2016
0.50
5
Distinct Co-methylation Patterns in African and European Populations and Their Genetic Associations.
PMID: 41224710
Genomics Proteomics Bioinformatics · 2025
0.33