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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCDC112
coiled-coil domain containing 112
Chromosome 5 Β· 5q22.3
NCBI Gene: 153733Ensembl: ENSG00000164221.13HGNC: HGNC:28599UniProt: D6RF76
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcentriolar satellitedevice complicationmalunion fractureosteoarthritis, kneepost term pregnancy
✦AI Summary

CCDC112 (coiled-coil domain containing 112) is a centriolar satellite protein with emerging roles in male reproductive biology and disease pathogenesis. In testicular tissue, CCDC112 functions as a stage-specific marker gene during human spermatogenesis, with expression patterns characteristic of germ cell development 1. The protein localizes to centriolar satellites and is hypothesized to participate in ciliogenesis and flagellum formation in germ cells, processes essential for spermatozoon maturation 2. Beyond reproductive function, CCDC112 has been identified as a prognostic biomarker in hepatocellular carcinoma (HCC), where it was selected among five differentially expressed genes to construct a risk stratification model with strong predictive performance for overall survival and immune cell infiltration patterns 3. Additionally, CCDC112 expression levels are significantly correlated with SARS-CoV-2 infection severity and HCC prognosis, suggesting involvement in immune response pathways, particularly T cell differentiation and monocyte function 4. While mechanistic details remain incompletely characterized, CCDC112's involvement in both reproductive development and cancer-related immune signaling positions it as a functionally important protein warranting further investigation in reproductive disorders and HCC immunotherapy applications.

Sources cited
1
CCDC112 is a stage-specific marker gene of human germ cells during spermatogenesis
PMID: 30174296
2
CCDC112 is a centriolar satellite protein hypothesized to function in ciliogenesis and flagellum formation in germ cells
PMID: 33064489
3
CCDC112 is one of five prognostic genes in an HCC risk model with excellent performance for predicting overall survival and immune infiltration
PMID: 36881382
4
CCDC112 expression correlates with SARS-CoV-2 infection and HCC prognosis, linked to immune response and T cell differentiation pathways
PMID: 37309005
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
device complicationOpen Targets
0.30Weak
malunion fractureOpen Targets
0.29Weak
osteoarthritis, kneeOpen Targets
0.29Weak
post term pregnancyOpen Targets
0.28Weak
spontaneous coronary artery dissectionOpen Targets
0.26Weak
breast carcinomaOpen Targets
0.23Weak
Premature ovarian insufficiencyOpen Targets
0.16Weak
atrial fibrillationOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
atrial flutterOpen Targets
0.04Suggestive
breast neoplasmOpen Targets
0.03Suggestive
cardioembolic strokeOpen Targets
0.03Suggestive
generalised epilepsyOpen Targets
0.03Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
disorder of earOpen Targets
0.03Suggestive
malignant renal pelvis neoplasmOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
cardiac arrhythmiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TEX9Protein interaction87%ESYT1Protein interaction77%PGGT1BProtein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Heart
44%
Lung
19%
Ovary
14%
Liver
6%
Gene Interaction Network
Click a node to explore
CCDC112TEX9ESYT1PGGT1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEF3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.88]
RankingsWhere CCDC112 stands among ~20K protein-coding genes
  • #13,856of 20,598
    Most Researched21
  • #7,750of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCCDC112
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis.
PMID: 30174296
Cell Stem Cell Β· 2018
1.00
2
Identification of fatty acid metabolism-related clusters and immune infiltration features in hepatocellular carcinoma.
PMID: 36881382
Aging (Albany NY) Β· 2023
0.75
3
Comprehensive DNA methylation profiling of COVID-19 and hepatocellular carcinoma to identify common pathogenesis and potential therapeutic targets.
PMID: 37309005
Clin Epigenetics Β· 2023
0.50
4
The Functionally Unannotated Proteome of Human Male Tissues: A Shared Resource to Uncover New Protein Functions Associated with Reproductive Biology.
PMID: 33064489
J Proteome Res Β· 2020
0.25