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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.
C3orf38
chromosome 3 open reading frame 38
Chromosome 3 Β· 3p11.1
NCBI Gene: 285237Ensembl: ENSG00000179021.11HGNC: HGNC:28384UniProt: Q5JPI3
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of apoptotic processnucleussmoking initiationAbnormality of the skeletal systemPathologic fracturepostmenopausal osteoporosis
✦AI Summary

C3orf38 is a chromosome 3 open reading frame gene with emerging roles in tumor suppression and metabolic regulation. Primary function: C3orf38 may be involved in apoptosis regulation [UniProt annotation], positioning it as a potential tumor suppressor candidate. Mechanism: The gene was identified within the 3p12.3-pcen region, a candidate tumor suppressor locus in ovarian cancer, where it exhibited expression in nontumorigenic radiation hybrids generated by chromosome 3 fragment transfer into ovarian cancer cells 1. Underexpression of related genes in this region correlated with malignant transformation, suggesting dysregulation of C3orf38 may contribute to ovarian tumorigenesis 1. Disease relevance: C3orf38 was identified as a hub gene in a tumor mutational burden-based risk model (TMBrisk) for ovarian cancer prognosis, where high expression associated with poor survival outcomes and immunosuppressive tumor microenvironments 2. Additionally, C3orf38 showed altered DNA methylation patterns in response to ketogenic diet-induced metabolic changes, suggesting epigenetic regulation in metabolic contexts 3. Clinical significance: As a TMBrisk component gene, C3orf38 demonstrates potential utility in prognostic modeling and identifying patients with immunosuppressive tumors requiring alternative therapeutic strategies in ovarian cancer.

Sources cited
1
C3orf38 identified as tumor suppressor gene candidate in 3p12.3-pcen region; expressed in nontumorigenic hybrids and potentially dysregulated in ovarian cancer
PMID: 19347865
2
C3orf38 showed altered DNA methylation in response to ketogenic diet-induced ketosis in patients with obesity
PMID: 34139469
3
C3orf38 is a hub gene in TMBrisk model predicting poor prognosis and immunosuppressive phenotype in ovarian cancer
PMID: 36003381
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
smoking initiationOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
bone fractureOpen Targets
0.21Weak
Pathologic fractureOpen Targets
0.21Weak
postmenopausal osteoporosisOpen Targets
0.21Weak
migraine disorderOpen Targets
0.17Weak
glomerulonephritisOpen Targets
0.11Weak
ShockOpen Targets
0.10Weak
obesityOpen Targets
0.09Suggestive
prostate carcinomaOpen Targets
0.08Suggestive
multinodular goiterOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
substance abuseOpen Targets
0.07Suggestive
overnutritionOpen Targets
0.07Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.07Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.07Suggestive
tooth agenesisOpen Targets
0.06Suggestive
amelogenesis imperfectaOpen Targets
0.06Suggestive
pili tortiOpen Targets
0.06Suggestive
cleft palateOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PNMA2Shared pathway100%PHLDA1Shared pathway100%PNMA3Shared pathway100%CSRNP3Shared pathway100%STPG1Shared pathway100%PNMA5Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
28%
Brain
27%
Liver
16%
Lung
15%
Ovary
13%
Gene Interaction Network
Click a node to explore
C3orf38PNMA2PHLDA1PNMA3CSRNP3STPG1PNMA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5JPI3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.44–0.92]
RankingsWhere C3orf38 stands among ~20K protein-coding genes
  • #16,114of 20,598
    Most Researched13
  • #8,449of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedC3orf38
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Characterization of the 3p12.3-pcen region associated with tumor suppression in a novel ovarian cancer cell line model genetically modified by chromosome 3 fragment transfer.
PMID: 19347865
Mol Carcinog Β· 2009
1.00
2
Epigenetic landscape in blood leukocytes following ketosis and weight loss induced by a very low calorie ketogenic diet (VLCKD) in patients with obesity.
PMID: 34139469
Clin Nutr Β· 2021
0.67
3
A novel tumor mutational burden-based risk model predicts prognosis and correlates with immune infiltration in ovarian cancer.
PMID: 36003381
Front Immunol Β· 2022
0.33