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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCDC50
coiled-coil domain containing 50
Chromosome 3 · 3q28
NCBI Gene: 152137Ensembl: ENSG00000152492.16HGNC: HGNC:18111UniProt: Q8IVM0
72PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sensory perception of soundprotein bindingubiquitin protein ligase bindingcytosolautosomal dominant nonsyndromic hearing lossneurodegenerative diseasehypothyroidismdeafness
✦AI Summary

CCDC50 (coiled-coil domain containing 50) functions as a multifaceted autophagy receptor that plays critical roles in cellular homeostasis and disease pathogenesis. The protein serves as a lysophagy receptor, recognizing damaged lysosomes through galectin-3 and K63-linked polyubiquitination, then targeting them for autophagy-dependent degradation to maintain lysosomal integrity 1. Additionally, CCDC50 acts as an aggrephagy receptor, clearing polyubiquitinated protein aggregates to prevent cellular proteotoxicity, particularly in neuronal cells where it is highly expressed 2. The protein also participates in neuronal development, positively regulating neurite outgrowth through JNK/c-Jun pathway activation and interactions with nerve growth factor receptor signaling 3. CCDC50 demonstrates disease relevance across multiple conditions. It promotes tumor progression in melanoma and hepatocellular carcinoma, with high expression correlating with poor prognosis and metastasis 14. The protein controls NF-κB signaling and is required for survival in mantle cell lymphoma and chr3 lymphocytic leukemia 5. CCDC50 expression remains dysregulated even during clinical remission in psoriatic arthritis, suggesting ongoing pathophysiological involvement 6. These findings establish CCDC50 as a potential therapeutic target across cancer and inflammatory diseases.

Sources cited
1
CCDC50 serves as a lysophagy receptor recognizing galectin-3 and K63-linked polyubiquitination on damaged lysosomes and promotes tumor progression in melanoma
PMID: 37672005
2
CCDC50 functions as an aggrephagy receptor that clears polyubiquitinated protein aggregates and is highly expressed in brain tissue
PMID: 38869076
3
CCDC50-V2 positively regulates neurite outgrowth through JNK/c-Jun pathway activation and nerve growth factor receptor signaling
PMID: 33277610
4
CCDC50 overexpression in hepatocellular carcinoma correlates with poor prognosis and promotes cell proliferation and migration
PMID: 37552104
5
CCDC50 controls NF-κB signaling and is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia
PMID: 19641524
6
CCDC50 expression remains dysregulated in psoriatic arthritis patients even during clinical remission
PMID: 37965313
Disease Associationsⓘ21
autosomal dominant nonsyndromic hearing lossOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
hypothyroidismOpen Targets
0.41Moderate
deafnessOpen Targets
0.37Weak
hearing lossOpen Targets
0.37Weak
smoking initiationOpen Targets
0.33Weak
complicationOpen Targets
0.30Weak
gastrointestinal diseaseOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
nonsyndromic genetic hearing lossOpen Targets
0.12Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
multinodular goiterOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Deafness, autosomal dominant, 44UniProt
Pathogenic Variants2
NM_178335.3(CCDC50):c.802C>T (p.Gln268Ter)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 44
★☆☆☆2025→ Residue 268
NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 44
★☆☆☆2021→ Residue 452
View on ClinVar ↗
Related Genes
ZNF354AShared pathway100%LRIG2Shared pathway100%LRIG1Shared pathway100%CLRN3Shared pathway100%LRIG3Shared pathway100%LOXHD1Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Liver
85%
Ovary
84%
Lung
71%
Brain
52%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
CCDC50ZNF354ALRIG2LRIG1CLRN3LRIG3LOXHD1
PROTEIN STRUCTURE
Preparing viewer…
PDB6LAN · 1.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.57–0.93]
RankingsWhere CCDC50 stands among ~20K protein-coding genes
  • #6,531of 20,598
    Most Researched72
  • #4,375of 5,498
    Most Pathogenic Variants2
  • #8,634of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedCCDC50
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CCDC50 promotes tumor growth through regulation of lysosome homeostasis.
PMID: 37672005
EMBO Rep · 2023
1.00
2
CCDC50 mediates the clearance of protein aggregates to prevent cellular proteotoxicity.
PMID: 38869076
Autophagy · 2024
0.90
3
Autophagy in colitis-associated colon cancer: exploring its potential role in reducing initiation and preventing IBD-Related CAC development.
PMID: 37723664
Autophagy · 2024
0.80
4
DNA methylation-mediated high expression of CCDC50 correlates with poor prognosis and hepatocellular carcinoma progression.
PMID: 37552104
Aging (Albany NY) · 2023
0.70
5
Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia.
PMID: 19641524
Leukemia · 2009
0.60