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GeneE
2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC169-SOHLH2
CCDC169-SOHLH2 readthrough
Chromosome 13 · 13q13.3
NCBI Gene: 100526761Ensembl: ENSG00000120669.16HGNC: HGNC:26026UniProt: Q9NX45
2PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Swiss-Prot Reviewed
multiple myelomamyocardial infarctionspondylolisthesismusculoskeletal system disease
✦AI Summary

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.

Sources cited
1
Identified CCDC169-SOHLH2 as a candidate gene under balancing selection related to gamete functions using population genomic analysis
PMID: 32462188
2
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.
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.42Moderate
myocardial infarctionOpen Targets
0.32Weak
spondylolisthesisOpen Targets
0.25Weak
musculoskeletal system diseaseOpen Targets
0.24Weak
monoclonal gammopathyOpen Targets
0.21Weak
primary ovarian insufficiencyOpen Targets
0.20Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
spinocerebellar ataxia type 32Open Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCDC169Co-mentioned in literature100%NOBOXProtein interaction73%FIGLAProtein interaction73%SOHLH1Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Heart
94%
Ovary
11%
Bone Marrow
6%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CCDC169-SOHLH2CCDC169NOBOXFIGLASOHLH1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NX45
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.25Tolerant
Observed/Expected LoF0.41 [0.29–0.59]
RankingsWhere CCDC169-SOHLH2 stands among ~20K protein-coding genes
  • #19,093of 20,598
    Most Researched2
  • #4,063of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedCCDC169-SOHLH2
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Identification of a Five-Gene Panel to Assess Prognosis for Gastric Cancer.
PMID: 35187167
Biomed Res Int · 2022
1.00
2
Flexible Mixture Model Approaches That Accommodate Footprint Size Variability for Robust Detection of Balancing Selection.
PMID: 32462188
Mol Biol Evol · 2020
0.50