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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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STON1
stonin 1
Chromosome 2 · 2p16.3
NCBI Gene: 11037Ensembl: ENSG00000243244.8HGNC: HGNC:17003UniProt: B2RB25
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of endocytosisclathrin-cargo adaptor activitysynaptic vesicle endocytosisclathrin-dependent endocytosisovarian neoplasmosteoarthritis, hipmedical procedureneurodegenerative disease
✦AI Summary

STON1 (stonin 1) is an endocytic adapter protein involved in regulating clathrin-dependent endocytosis and synaptic vesicle dynamics. Structurally, STON1 contains a proline-rich domain and a region homologous to AP complex mu subunits, characteristic of endocytic machinery components 1. While stonin 2 directly interacts with Eps15 and intersectin proteins, STON1's specific endocytic interactions remain less characterized 1. Beyond its canonical endocytic role, STON1 has emerged as a disease-associated locus through genome-wide association studies. STON1 variants associate with polycystic ovary syndrome (PCOS) pathogenesis, where STON1 is upregulated and co-expresses with genes involved in adipocyte metabolism 2. STON1 also influences AMD bilaterality risk 3 and associates with immunotherapy response in non-small cell lung cancer via effects on mismatch repair and immune regulation 4. In kidney renal clear cell carcinoma, decreased STON1 expression correlates with poor prognosis and correlates with tumor immune microenvironment composition, predicting favorable immunotherapy response but poor targeted treatment outcomes 5. Additionally, STON1 exhibits differential DNA methylation associated with FTO obesity risk alleles 6. These findings suggest STON1 functions at the intersection of endocytic regulation and metabolic-immune homeostasis, with clinical relevance for multiple diseases.

Sources cited
1
STON1 structural features and comparison to stonin 2's endocytic machinery interactions
PMID: 11381094
2
STON1 as target of rs13405728 locus in PCOS with upregulation and metabolic pathway associations
PMID: 34248847
3
STON1-GTF2A1L/LHCGR/FSHR locus association with AMD bilaterality
PMID: 28775256
4
STON1 regulatory polymorphisms linked to mismatch repair and immunotherapy response in NSCLC
PMID: 40889797
5
Decreased STON1 expression in KIRC correlates with poor prognosis and altered immune microenvironment
PMID: 36759775
6
STON1 differential DNA methylation associated with FTO obesity risk alleles
PMID: 22234326
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.32Weak
osteoarthritis, hipOpen Targets
0.28Weak
medical procedureOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.22Weak
myoepithelial tumorOpen Targets
0.11Weak
polycystic ovary syndromeOpen Targets
0.07Suggestive
mathematical abilityOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
ependymomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.02Suggestive
OligomenorrheaOpen Targets
0.02Suggestive
PolymenorrheaOpen Targets
0.02Suggestive
uterine disorderOpen Targets
0.02Suggestive
MenorrhagiaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STON2Shared pathway100%STON1-GTF2A1LCo-mentioned in literature100%GTF2A1Protein interaction100%GTF2A1LProtein interaction64%AMPHShared pathway40%EPS15L1Shared pathway40%
Tissue Expression6 tissues
Ovary
100%
Lung
66%
Heart
40%
Brain
10%
Liver
10%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
STON1STON2STON1-GTF2A1LGTF2A1GTF2A1LAMPHEPS15L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y6Q2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.26 [1.04–1.52]
RankingsWhere STON1 stands among ~20K protein-coding genes
  • #13,532of 20,598
    Most Researched23
  • #15,297of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedSTON1
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Three-Dimensional Genome Interactions Identify Potential Adipocyte Metabolism-Associated Gene
PMID: 34248847
Front Endocrinol (Lausanne) · 2021
1.00
2
Regulatory polymorphisms of
PMID: 40889797
J Immunother Cancer · 2025
0.89
3
A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.
PMID: 28775256
Sci Rep · 2017
0.78
4
Integrated analysis of the relation to tumor immune microenvironment and predicted value of Stonin1 gene for immune checkpoint blockage and targeted treatment in kidney renal clear cell carcinoma.
PMID: 36759775
BMC Cancer · 2023
0.67
5
Genome wide analysis reveals association of a FTO gene variant with epigenetic changes.
PMID: 22234326
Genomics · 2012
0.56