2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
2PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Swiss-Prot Reviewed
multiple myelomamyocardial infarctionspondylolisthesismusculoskeletal system disease
Based on limited published evidence, CCDC169-SOHLH2 is a transcription regulator functioning in germline differentiation. UniProt annotations indicate it suppresses spermatogonial stem cell maintenance genes while inducing spermatogonial differentiation genes, and coordinates oocyte differentiation without affecting meiosis I. A population genomic study identified CCDC169-SOHLH2 as a candidate gene under balancing selection, consistent with its gamete function 1. Additionally, mutations in this gene were associated with gastric cancer prognosis in a prognostic panel study 2, though this finding requires further validation in germline-related contexts.
1
Identified CCDC169-SOHLH2 as a candidate gene under balancing selection related to gamete functions using population genomic analysis
PMID: 324621882
CCDC169-SOHLH2 mutations were part of a five-gene panel associated with gastric cancer prognosis and patient survival
PMID: 35187167⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
multiple myelomaOpen Targets
myocardial infarctionOpen Targets
spondylolisthesisOpen Targets
musculoskeletal system diseaseOpen Targets
monoclonal gammopathyOpen Targets
primary ovarian insufficiencyOpen Targets
partial chromosome Y deletionOpen Targets
breast cancerOpen Targets
spermatogenic failure, X-linked, 2Open Targets
spermatogenic failure 50Open Targets
spermatogenic failure 57Open Targets
spermatogenic failure 25Open Targets
triple-negative breast cancerOpen Targets
spinocerebellar ataxia type 32Open Targets
renal cell carcinomaOpen Targets
isochromosomy YpOpen Targets
spermatogenic failure 63Open Targets
spermatogenic failure 71Open Targets
spermatogenic failure 12Open Targets
No pathogenic variants reported on ClinVar for this gene.