STON2: Stonin 2 - Adaptor Protein in Endocytic Trafficking
Comprehensive gene overview of STON2, encoding a clathrin-associated adaptor protein involved in synaptic vesicle recycling and endocytosis.
Gene Information Card
| Symbol | STON2 |
|---|---|
| Full Name | stonin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q31.1 |
| NCBI Gene ID | 85439 ncbi.nlm.nih.gov/gene/85439 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q8WXE9 |
| OMIM ID | 608467 |
| HGNC ID | 30646 |
| Aliases | STN2, stonin-2, bA397G5.3 |
Description
STON2 encodes stonin 2, a member of the stonin family of endocytic adaptor proteins. Stonin 2 functions in clathrin-mediated endocytosis, specifically in the recycling of synaptic vesicle proteins such as synaptotagmin. It is involved in the sorting and trafficking of cargo at the plasma membrane and plays a role in neurotransmitter release and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered STON2 expression may influence endocytic trafficking of growth factor receptors, affecting cell proliferation and migration. | COSMIC; PMID: 25691885 |
| Colorectal cancer | STON2 overexpression correlates with poor prognosis and may promote tumor invasion via modulation of E-cadherin trafficking. | COSMIC; PMID: 29348624 |
| Schizophrenia | Genetic variants in STON2 have been associated with altered synaptic function and risk for schizophrenia. | ClinVar; PMID: 21743469 |
| Autism spectrum disorder | Rare STON2 variants identified in ASD cohorts suggest a role in synaptic vesicle recycling and neurodevelopment. | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model; high expression |
| HeLa (cervical carcinoma) | 4.7 | Moderate expression |
| MCF7 (breast cancer) | 6.2 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.01% (gnomAD) | May affect protein stability; reported in autism |
| c.1456G>A (p.Glu486Lys) | Missense | 0.005% (gnomAD) | Potential impact on cargo binding; schizophrenia association |
| c.1789_1791del (p.Lys597del) | In-frame deletion | Rare | Alters linker region; functional significance unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in STON2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity (GO:0035615) | • endocytosis (GO:0006897) |
| • synaptic vesicle endocytosis (GO:0048488) | • protein binding (GO:0005515) |
| • intracellular protein transport (GO:0006886) |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856825)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (KEGG: hsa04144)
Protein Summary
Stonin 2 is a 798-amino acid protein containing an N-terminal stonin homology domain (SHD) and a C-terminal μ-homology domain (μHD). It functions as a clathrin-associated sorting protein (CLASP) that recognizes internalization signals on cargo proteins, particularly synaptotagmin. Stonin 2 bridges cargo to the clathrin adaptor AP-2, facilitating efficient endocytosis at the presynaptic membrane. It is predominantly expressed in brain and testis, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STON2 Knockout HEK293 Cell Line | EDJ-KQ10356 | Human | 85439 | Details Get a Quote |
| STON2 Knockout A-549 Cell Line | EDJ-KQ37675 | Human | 85439 | Details Get a Quote |
| STON2 Knockout HCT 116 Cell Line | EDJ-KQ37676 | Human | 85439 | Details Get a Quote |
| STON2 Knockout HeLa Cell Line | EDJ-KQ37677 | Human | 85439 | Details Get a Quote |
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