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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC63
coiled-coil domain containing 63
Chromosome 12 · 12q24.11
NCBI Gene: 160762Ensembl: ENSG00000173093.13HGNC: HGNC:26669UniProt: G3V217
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cilium movementspermatid developmentouter dynein arm assemblyaxonemeGraves diseasefunctional neutrophil defectIschemic strokegout
✦AI Summary

CCDC63 is a coiled-coil domain protein with pleiotropic roles in reproductive and metabolic processes. In spermatogenesis, CCDC63 functions in flagellar elongation and sperm head formation through involvement in axoneme and outer dynein arm assembly [UniProt annotations]. Beyond reproductive function, CCDC63 has emerged as a genetic locus associated with multiple cardiometabolic diseases. Genome-wide association studies identified CCDC63 variants as novel susceptibility loci for early-onset myocardial infarction, hypertension, and chr12 kidney disease in Japanese populations 1. In Korean cohorts, CCDC63 genetic variants associate with both alcohol consumption 2 and metabolic syndrome 3, with evidence suggesting gene-environment interactions. Specifically, CCDC63 intronic variants (rs10849915, rs11065756) show alcohol-dependent associations with dyslipidemia risk, lipid profiles, and hepatic enzyme levels 4. These associations appear largely mediated through linkage disequilibrium with ALDH2 variants in some populations 5, though independent genetic signals have been identified. Additionally, CCDC63 was identified as a candidate sex-determination gene in rock bream 6. The functional mechanism underlying CCDC63's cardiometabolic associations remains unclear, warranting mechanistic investigation into how a spermatogenesis-related protein influences systemic metabolism and cardiovascular disease risk.

Sources cited
1
CCDC63 is identified as a novel susceptibility locus for early-onset myocardial infarction, hypertension, and chronic kidney disease
PMID: 30226566
2
CCDC63 variants on chromosome 12q24 are significantly associated with alcohol consumption in genome-wide association studies
PMID: 21270382
3
CCDC63 variants rs11065756 and rs10849915 are novel genetic loci associated with metabolic syndrome
PMID: 29632305
4
CCDC63 intronic variants show gene-environment interactions with alcohol consumption affecting dyslipidemia risk, γ-GTP levels, and HDL cholesterol
PMID: 41828368
5
CCDC63 variant rs10774610 associations with alcohol-related phenotypes result from linkage disequilibrium with ALDH2
PMID: 24277619
6
CCDC63 is identified as a candidate sex-determining gene in rock bream based on genomic association analysis and transcriptome data
PMID: 35122574
Disease Associationsⓘ20
Graves diseaseOpen Targets
0.35Weak
functional neutrophil defectOpen Targets
0.33Weak
Ischemic strokeOpen Targets
0.32Weak
goutOpen Targets
0.31Weak
bipolar disorderOpen Targets
0.31Weak
strokeOpen Targets
0.30Weak
hypertensionOpen Targets
0.29Weak
JaundiceOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.26Weak
Crohn's diseaseOpen Targets
0.24Weak
cirrhosis of liverOpen Targets
0.23Weak
drinking behaviorOpen Targets
0.23Weak
polyp of colonOpen Targets
0.23Weak
chronic obstructive pulmonary diseaseOpen Targets
0.22Weak
lower urinary tract calculusOpen Targets
0.21Weak
angina pectorisOpen Targets
0.15Weak
azoospermiaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MNS1Protein interaction74%HECTD4Protein interaction70%ODAD1Shared pathway50%DNAAF5Shared pathway50%DNAI2Shared pathway40%SPANXB1Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
4%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CCDC63MNS1HECTD4ODAD1DNAAF5DNAI2SPANXB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NA47
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.68–1.05]
RankingsWhere CCDC63 stands among ~20K protein-coding genes
  • #16,418of 20,598
    Most Researched12
  • #10,528of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCCDC63
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.
PMID: 30226566
Int J Mol Med · 2018
1.00
2
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
PMID: 21270382
Am J Clin Nutr · 2011
0.83
3
Sex-Specific Genomic Region Identification and Molecular Sex Marker Development of Rock Bream (Oplegnathus fasciatus).
PMID: 35122574
Mar Biotechnol (NY) · 2022
0.67
4
New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
PMID: 29632305
Sci Rep · 2018
0.50
5
Genetic Influence of
PMID: 41828368
Int J Mol Sci · 2026
0.33