HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCDC39
coiled-coil domain 39 molecular ruler complex subunit
Chromosome 3 Β· 3q26.33
NCBI Gene: 339829Ensembl: ENSG00000284862.4HGNC: HGNC:25244UniProt: Q9UFE4
30PubMed Papers
21Diseases
0Drugs
173Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium movementregulation of cilium beat frequencyflagellated sperm motilityinner dynein arm assemblyprimary ciliary dyskinesiaAbnormality of the skeletal systembronchiectasisinfertility
✦AI Summary

CCDC39 encodes a protein essential for the assembly and function of motile cilia and flagella, serving as a key component of the dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes that regulate ciliary beating 1. CCDC39 functions together with CCDC40 to form a molecular ruler that determines the 96-nanometer repeat length and structural arrangements within ciliary axonemes 2. The protein acts as a scaffold supporting the assembly of an extensive network of over 90 ciliary structural proteins, whose loss results in both motility-dependent and motility-independent cellular dysfunction 1. Mutations in CCDC39 cause primary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by chr3 respiratory infections, bronchiectasis, situs inversus, and male infertility 34. Patients with CCDC39 mutations exhibit particularly severe disease phenotypes, including significantly lower lung function (FEV1) and growth parameters compared to other PCD genotypes 56. The protein's absence leads to the loss of inner dynein arm heavy chains (DNAH1, DNAH6, DNAH7) and centrin2-containing IDAs, resulting in defective ciliary ultrastructure and impaired motility 2. CCDC39 variants are among the most common causes of PCD globally, with distinct founder mutations showing regional clustering patterns 6.

Sources cited
1
CCDC39 is essential for dynein regulatory complex assembly and acts as scaffold for extensive ciliary protein network
PMID: 39879322
2
CCDC39 functions with CCDC40 as molecular ruler determining 96nm repeat units and affects inner dynein arm assembly
PMID: 39056782
3
CCDC39 mutations cause primary ciliary dyskinesia with chronic respiratory symptoms and situs inversus
PMID: 33577779
4
CCDC39 variants associated with male infertility and sperm flagella abnormalities
PMID: 35795318
5
CCDC39 mutations cause more severe lung disease phenotype compared to other PCD genotypes
PMID: 30067075
6
CCDC39 variants show regional clustering and significant genotype-phenotype correlations in PCD
PMID: 38871375
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.80Strong
Abnormality of the skeletal systemOpen Targets
0.48Moderate
bronchiectasisOpen Targets
0.37Weak
infertilityOpen Targets
0.34Weak
placenta praeviaOpen Targets
0.31Weak
smoking behaviorOpen Targets
0.29Weak
visceral heterotaxyOpen Targets
0.28Weak
narcolepsyOpen Targets
0.27Weak
breast diseaseOpen Targets
0.26Weak
HeterotaxyOpen Targets
0.26Weak
intelligenceOpen Targets
0.25Weak
premature birthOpen Targets
0.25Weak
preeclampsiaOpen Targets
0.16Weak
neurodegenerative diseaseOpen Targets
0.14Weak
Ellis Van Creveld syndromeOpen Targets
0.12Weak
Ellis-van Creveld syndromeOpen Targets
0.12Weak
HeterotaxiaOpen Targets
0.09Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.07Suggestive
Ivemark syndromeOpen Targets
0.07Suggestive
right atrial isomerismOpen Targets
0.07Suggestive
Ciliary dyskinesia, primary, 14UniProt
Pathogenic Variants173
NM_181426.2(CCDC39):c.357+1G>CPathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia|not provided|Infertility disorder|CCDC39-related disorder
β˜…β˜…β˜†β˜†2026
NM_181426.2(CCDC39):c.1167+1261A>GPathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2026
NM_181426.2(CCDC39):c.610-2A>GPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2026
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2025β†’ Residue 833
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2025β†’ Residue 277
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)Pathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2025β†’ Residue 452
NM_181426.2(CCDC39):c.1999-2A>TPathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2025β†’ Residue 836
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 731
NM_181426.2(CCDC39):c.1665+1G>APathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2025
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2025β†’ Residue 786
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 358
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)Pathogenic
Primary ciliary dyskinesia|Heterotaxy|CCDC39-related disorder|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2024β†’ Residue 624
NM_181426.2(CCDC39):c.931-1G>TPathogenic
Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2024
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 176
NM_181426.2(CCDC39):c.210+2T>CPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2024
NM_181426.2(CCDC39):c.1417_1420del (p.Asn473fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 473
NM_181426.2(CCDC39):c.1018_1019insG (p.His340fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 340
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 786
NM_181426.2(CCDC39):c.2492_2496del (p.Met831fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β˜…β˜…β˜†β˜†2024β†’ Residue 831
View on ClinVar β†—
Related Genes
RSPH4AProtein interaction92%DRC4Protein interaction88%DNALI1Protein interaction88%ZMYND10Protein interaction88%DNAAF5Protein interaction88%RSPH1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CCDC39RSPH4ADRC4DNALI1ZMYND10DNAAF5RSPH1
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.80–1.23]
RankingsWhere CCDC39 stands among ~20K protein-coding genes
  • #11,871of 20,598
    Most Researched30
  • #426of 5,498
    Most Pathogenic Variants173 Β· top 10%
  • #12,918of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedCCDC39
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
PMID: 33577779
Chest Β· 2021
1.00
2
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
PMID: 30067075
Am J Respir Crit Care Med Β· 2019
0.90
3
Biallelic Variants in
PMID: 35795318
Biomed Res Int Β· 2022
0.80
4
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
PMID: 39879322
Sci Transl Med Β· 2025
0.70
5
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in
PMID: 39056782
Cells Β· 2024
0.60