HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
3 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.
CCDC158
coiled-coil domain containing 158
Chromosome 4 Β· 4q21.1
NCBI Gene: 339965Ensembl: ENSG00000163749.18HGNC: HGNC:26374UniProt: A0A804HIY6
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingclathrin bindingreceptor-mediated endocytosisearly endosomegastrointestinal diseasechronic kidney diseaseatrial fibrillationheart disease
✦AI Summary

CCDC158 is a coiled-coil domain protein that plays a critical role in receptor-mediated endocytosis in renal proximal tubular cells 1. The protein functions as a regulator of clathrin-coated vesicle trafficking and early endosomal processing, likely through interactions with other endocytosis-related proteins 1. Functional studies using transferrin and GST-RAP trafficking assays in patient-derived proximal tubular epithelial cells confirmed CCDC158's role in receptor-mediated endocytosis 1. Genetically, loss of heterozygosity (LOH) at the CCDC158 locus on chromosome 4.1 is associated with larger tumor size in hepatocellular carcinoma patients 2. Additionally, genetic variants in CCDC158 are part of a chromosome 4.1 locus associated with kidney function markers, though SHROOM3 appears to be the primary effector gene 3. Biallelic CCDC158 mutations cause a clinical phenotype of low- and intermediate molecular weight proteinuria, nephrocalcinosis, and oligospermia, highlighting its importance in both renal tubular reabsorption and male fertility 1. These findings establish CCDC158 as a novel regulator of proximal tubular endocytic pathways with potential implications for kidney disease and cancer biology.

Sources cited
1
CCDC158 functions in receptor-mediated endocytosis in renal proximal tubular cells through interaction with endocytosis regulators
PMID: 39319391
2
Loss of heterozygosity in CCDC158 is associated with larger tumor size in hepatocellular carcinoma
PMID: 20419844
3
CCDC158 genetic variants are part of chromosome 4q21.1 locus associated with kidney function markers
PMID: 40485680
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
gastrointestinal diseaseOpen Targets
0.31Weak
chronic kidney diseaseOpen Targets
0.23Weak
atrial fibrillationOpen Targets
0.22Weak
heart diseaseOpen Targets
0.21Weak
Moderate albuminuriaOpen Targets
0.18Weak
corneal edemaOpen Targets
0.18Weak
Increased blood pressureOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
orofacial cleftOpen Targets
0.11Weak
injuryOpen Targets
0.10Weak
placenta praeviaOpen Targets
0.10Weak
metabolic diseaseOpen Targets
0.10Suggestive
bladder calculusOpen Targets
0.10Suggestive
urolithiasisOpen Targets
0.10Suggestive
nephrolithiasisOpen Targets
0.09Suggestive
atrial flutterOpen Targets
0.07Suggestive
response to statinOpen Targets
0.07Suggestive
albuminuriaOpen Targets
0.07Suggestive
tooth diseaseOpen Targets
0.07Suggestive
poisoningOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MRC1Shared pathway100%LDLRAD3Shared pathway50%RABEPKShared pathway50%ASGR1Shared pathway50%SDC1Shared pathway50%LRP1BShared pathway50%
Tissue Expression6 tissues
Liver
100%
Heart
34%
Brain
31%
Lung
21%
Ovary
12%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
CCDC158MRC1LDLRAD3RABEPKASGR1SDC1LRP1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5M9N0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.63–0.96]
RankingsWhere CCDC158 stands among ~20K protein-coding genes
  • #14,941of 20,598
    Most Researched17
  • #9,012of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedCCDC158
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
LOH analysis of genes around D4S2964 identifies ARD1B as a prognostic predictor of hepatocellular carcinoma.
PMID: 20419844
World J Gastroenterol Β· 2010
1.00
2
Clinical and Metabolic Signatures of
PMID: 40485680
Kidney Int Rep Β· 2025
0.67
3
CCDC158: A novel regulator in renal proximal tubular endocytosis unveiled through exome sequencing and interactome analysis.
PMID: 39319391
J Cell Physiol Β· 2024
0.33