SNAP23: Synaptosome Associated Protein 23
A key SNARE protein mediating vesicle fusion and membrane trafficking
Gene Information Card
| Symbol | SNAP23 |
|---|---|
| Full Name | Synaptosome Associated Protein 23 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 8773 ncbi.nlm.nih.gov/gene/8773 |
| Ensembl ID | ENSG00000104081 |
| UniProt ID | O00161 |
| OMIM ID | 602134 |
| HGNC ID | 11131 |
| Aliases | SNAP23A, SNAP23B, HsT17016 |
Description
SNAP23 (Synaptosome Associated Protein 23) encodes a member of the SNAP25 family of SNARE proteins. It is a ubiquitously expressed t-SNARE that mediates vesicle docking and fusion with target membranes, playing a critical role in exocytosis, membrane trafficking, and secretion. SNAP23 forms complexes with syntaxin and VAMP proteins to facilitate the fusion of vesicles in non-neuronal tissues, including immune cells, adipocytes, and epithelial cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | SNAP23 regulates GLUT4 translocation and insulin-stimulated glucose uptake in adipocytes; altered expression linked to insulin resistance | PMID: 19151720 |
| Asthma | SNAP23 mediates mast cell degranulation and eosinophil exocytosis; variants associated with airway hyperresponsiveness | PMID: 21366456 |
| Cancer (breast, lung) | SNAP23 overexpression promotes exosome secretion and tumor invasion; SNARE complex dysregulation | COSMIC: SNAP23 mutations in breast and lung cancer |
| Immune disorders | SNAP23 required for cytotoxic granule release in NK cells and T cells; defects impair immune response | PMID: 23335508 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | High |
| Lung | 38.7 | High |
| Spleen | 35.1 | High |
| Brain | 12.4 | Medium |
| Heart | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.3 | Cervical cancer cell line |
| A549 | 55.8 | Lung carcinoma cell line |
| HepG2 | 48.1 | Hepatocellular carcinoma cell line |
| K562 | 41.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Thr66Ile) | Missense | 0.02% (gnomAD) | Potential altered SNARE complex stability |
| c.344G>A (p.Arg115Gln) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.511_513del (p.Lys171del) | In-frame deletion | Rare | May disrupt coiled-coil domain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for SNAP23.
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)
| • GO:0005484 - SNAP receptor activity | • GO:0006887 - exocytosis |
| • GO:0016192 - vesicle-mediated transport | • GO:0031201 - SNARE complex |
| • GO:0048278 - vesicle docking |
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-421837)
• Membrane trafficking (Reactome: R-HSA-199991)
• Insulin receptor recycling (Reactome: R-HSA-77387)
Protein Summary
SNAP23 is a 23 kDa protein containing two SNARE coiled-coil domains that interact with syntaxin and VAMP proteins to form a stable SNARE complex. It is ubiquitously expressed and essential for non-neuronal exocytosis, including secretion of cytokines, hormones, and enzymes. SNAP23 is anchored to the plasma membrane via palmitoylation and is involved in diverse processes such as glucose transport, immune cell degranulation, and cancer exosome biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAP23 Knockout HEK293 Cell Line | EDJ-KQ6354 | Human | 8773 | Details Get a Quote |
| SNAP23 Knockout A-549 Cell Line | EDJ-KQ30307 | Human | 8773 | Details Get a Quote |
| SNAP23 Knockout HCT 116 Cell Line | EDJ-KQ30308 | Human | 8773 | Details Get a Quote |
| SNAP23 Knockout HeLa Cell Line | EDJ-KQ30309 | Human | 8773 | Details Get a Quote |
| SNAP23 and STX7 Knockout HEK293T Cell Line | EDC07670 | Human | 8773 and 8417 | Details Get a Quote |
| SNAP23 Knockout HEK293T Cell Line | EDC07726 | Human | 8773 | Details Get a Quote |
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