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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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STON2
stonin 2
Chromosome 14 · 14q31.1
NCBI Gene: 85439Ensembl: ENSG00000140022.14HGNC: HGNC:30652UniProt: A0A3B3IU55
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynaptic vesicle endocytosiscytosolAP-2 adaptor complexSensorineural hearing impairmentAbruptio PlacentaeJaundiceovarian dysfunction
✦AI Summary

STON2 (stonin 2) is an adapter protein that functions as a major regulator of clathrin-mediated endocytosis (CME) in synaptic vesicle recycling 1. Mechanistically, STON2 facilitates the recognition and trafficking of synaptic vesicle proteins, particularly through interaction with synaptotagmin 1 (Syt1), a calcium sensor critical for CME 1. Beyond synaptic function, STON2 maintains lysosomal membrane integrity and activates the Akt-mTOR survival axis 2, and regulates immune cell differentiation, specifically Th17 cell populations 3. Clinically, STON2 variants are associated with schizophrenia susceptibility. The C-C (307Pro-851Ala) haplotype increases schizophrenia risk and causes synaptic transmission deficits and schizophrenia-like behaviors in knockin mice 1. The Pro307 allele correlates with altered cortical surface area in schizophrenia patients 4. Importantly, patients carrying this haplotype show preferential response to haloperidol 1, suggesting potential pharmacogenetic applications. ADDITIONAL DISEASE RELEVANCE: STON2 variants associate with keratoconus, a corneal thinning disorder 5. STON2 overexpression promotes oral squamous cell carcinoma and papillary thyroid carcinoma progression 26, while reduced STON2 expression supports ovarian cancer stem cell properties 7, indicating context-dependent oncogenic roles.

Sources cited
1
STON2 is a major adaptor for clathrin-mediated endocytosis of synaptic vesicles; schizophrenia-related STON2 variations affect Syt1 trafficking and cause synaptic dysfunction and schizophrenia-like behaviors
PMID: 38402028
2
STON2 maintains lysosomal membrane integrity and activates the Akt-mTOR axis; STON2 overexpression promotes oral cancer progression
PMID: 36702439
3
STON2 genetic variation is associated with Th17 cell differentiation in the adaptive immune system
PMID: 30332657
4
STON2 participates in synaptic vesicle protein recognition and the C-C (Pro307-Ala851) functional haplotype is over-transmitted in schizophrenia cases
PMID: 21407139
5
STON2 rs2371597 is associated with central corneal thickness and keratoconus development
PMID: 32737415
6
STON2 Ser307Pro polymorphism correlates with cortical surface area changes in schizophrenia patients
PMID: 23785397
7
STON2 overexpression promotes papillary thyroid carcinoma cell growth, migration, invasion, and EMT
PMID: 30325582
8
STON2 negatively modulates ovarian cancer stem cell stemness via DNMT1/MUC1 pathway
PMID: 30518424
Disease Associationsⓘ20
Sensorineural hearing impairmentOpen Targets
0.34Weak
Abruptio PlacentaeOpen Targets
0.32Weak
JaundiceOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.22Weak
ovarian cancerOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.03Suggestive
keratoconusOpen Targets
0.03Suggestive
dry eye syndromeOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
femoral neck fractureOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
drug allergyOpen Targets
0.02Suggestive
hypothyroidismOpen Targets
0.02Suggestive
abscessOpen Targets
0.02Suggestive
cellulitisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STON1Shared pathway100%CLINT1Protein interaction100%VAMP2Protein interaction100%DAB2Protein interaction99%SYT1Protein interaction99%SNAP91Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Lung
27%
Liver
21%
Ovary
21%
Heart
21%
Gene Interaction Network
Click a node to explore
STON2STON1CLINT1VAMP2DAB2SYT1SNAP91
PROTEIN STRUCTURE
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PDB2JXC · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.44 [0.33–0.60]
RankingsWhere STON2 stands among ~20K protein-coding genes
  • #6,854of 20,598
    Most Researched69
  • #4,127of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedSTON2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
STON2 variations are involved in synaptic dysfunction and schizophrenia-like behaviors by regulating Syt1 trafficking.
PMID: 38402028
Sci Bull (Beijing) · 2024
1.00
2
Stonin 2 activates lysosomal-mTOR axis for cell survival in oral cancer.
PMID: 36702439
Toxicol In Vitro · 2023
0.90
3
Positive association of the human STON2 gene with schizophrenia.
PMID: 21407139
Neuroreport · 2011
0.80
4
Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
PMID: 32737415
Commun Biol · 2020
0.70
5
miR-199b-5p-Stonin 2 axis regulates metastases and epithelial-to-mesenchymal transition of papillary thyroid carcinoma.
PMID: 30325582
IUBMB Life · 2019
0.60