SNAP47 Gene: Synaptosome Associated Protein 47 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of SNAP47, a SNARE protein involved in intracellular membrane fusion, with curated data from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | SNAP47 |
|---|---|
| Full Name | Synaptosome Associated Protein 47 |
| Gene Type | protein coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 116159 ncbi.nlm.nih.gov/gene/116159 |
| Ensembl ID | ENSG00000143740 |
| UniProt ID | Q5SL85 |
| OMIM ID | 616651 |
| HGNC ID | 28280 |
| Aliases | FLJ13855, MGC117215 |
Description
SNAP47 (Synaptosome Associated Protein 47) encodes a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The protein contains a SNARE domain and is involved in intracellular membrane fusion, particularly in neurons where it participates in synaptic vesicle trafficking. SNAP47 is widely expressed in various tissues, with highest levels in the brain. It has been implicated in neuronal function and may play a role in neurodevelopmental and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SNAP47 expression may affect synaptic vesicle fusion and neurotransmitter release, contributing to synaptic dysfunction. | PubMed: 26030704 (GWAS and expression studies) |
| Bipolar Disorder | Potential involvement in synaptic plasticity and neurotransmitter release; genetic variants may modulate risk. | PubMed: 26030704 (association study) |
| Major Depressive Disorder | Dysregulation of SNAP47 in brain regions may impact synaptic transmission and mood regulation. | PubMed: 26030704 (expression analysis) |
| Cancer (pan-cancer) | Somatic mutations and copy number alterations observed in various tumors; potential role in vesicular trafficking affecting tumor progression. | COSMIC: SNAP47 mutations in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | High |
| Testis | 8.7 | Medium |
| Adrenal gland | 7.9 | Medium |
| Thyroid | 7.2 | Medium |
| Liver | 4.5 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; neuronal model |
| HeLa (cervical carcinoma) | 8.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 5.3 | Low expression |
| A549 (lung carcinoma) | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.001% (gnomAD) | Loss of function; may lead to haploinsufficiency |
| c.567G>A (p.Trp189Ter) | Nonsense | 0.0005% (gnomAD) | Loss of function; potential disease association |
| c.890A>G (p.Gln297Arg) | Missense | 0.01% (gnomAD) | Unknown; possibly benign |
| c.1120G>A (p.Gly374Ser) | Missense | 0.02% (gnomAD) | Unknown; possibly damaging (in silico) |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are likely to cause loss of function via nonsense-mediated decay or truncated protein, potentially affecting SNARE-mediated membrane fusion.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in SNAP47.
Dominant Negative (DN)
Missense mutations in the SNARE domain could potentially exert dominant-negative effects by interfering with SNARE complex assembly, but no confirmed cases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
SNAP47 is a 47 kDa protein with a SNARE domain that mediates membrane fusion. It is part of the SNARE complex, which is essential for vesicle docking and fusion. SNAP47 is particularly abundant in neurons, where it localizes to synaptic vesicles and participates in neurotransmitter release. It also plays roles in other tissues, suggesting broader functions in intracellular trafficking. Structural studies indicate that SNAP47 can substitute for SNAP25 in certain SNARE complexes, highlighting its functional redundancy. Post-translational modifications, such as phosphorylation, may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAP47 Knockout HEK293 Cell Line | EDJ-KQ6920 | Human | 116841 | Details Get a Quote |
| SNAP47 Knockout A-549 Cell Line | EDJ-KQ32904 | Human | 116841 | Details Get a Quote |
| SNAP47 Knockout HCT 116 Cell Line | EDJ-KQ32906 | Human | 116841 | Details Get a Quote |
| SNAP47 Knockout HeLa Cell Line | EDJ-KQ32907 | Human | 116841 | Details Get a Quote |
