SNAP29 Gene: Synaptosome Associated Protein 29
A key SNARE protein in membrane fusion, linked to CEDNIK syndrome and neurodevelopmental disorders.
Gene Information Card
| Symbol | SNAP29 |
|---|---|
| Full Name | Synaptosome Associated Protein 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 9342 ncbi.nlm.nih.gov/gene/9342 |
| Ensembl ID | ENSG00000164985 |
| UniProt ID | O95721 |
| OMIM ID | 604202 |
| HGNC ID | 11133 |
| Aliases | CEDNIK, SNAP-29 |
Description
SNAP29 encodes a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. This protein is involved in intracellular membrane fusion events, playing a critical role in vesicle trafficking, autophagy, and neurotransmitter release. Mutations in SNAP29 are associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| CEDNIK syndrome | Loss-of-function mutations in SNAP29 disrupt SNARE complex formation, impairing membrane fusion in skin and neural tissues. | OMIM 604202; ClinVar |
| Schizophrenia (susceptibility) | Altered SNAP29 expression may affect synaptic vesicle recycling, contributing to neuropsychiatric phenotypes. | NCBI Gene; literature |
| Neurodevelopmental delay | Impaired SNARE function affects neuronal development and synaptic transmission. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.6 | Medium |
| Skin | 8.2 | Low |
| Liver | 6.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | Neuronal model |
| HeLa (cervical carcinoma) | 8.7 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 6.5 | Liver origin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.499C>T (p.Arg167*) | Nonsense | Rare | Premature truncation, loss of function |
| c.223delC (p.Leu75Trpfs*20) | Frameshift | Rare | Loss of function |
| c.IVS3+1G>A | Splice site | Rare | Aberrant splicing, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to CEDNIK syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • SNAP receptor activity |
| • Intracellular membrane-bounded organelle | • Vesicle-mediated transport |
| • Autophagy | • Synaptic vesicle fusion |
Pathways
• SNARE interactions in vesicular transport
• Autophagy
• Neurotransmitter release
Protein Summary
SNAP29 is a 29 kDa SNARE protein that localizes to various membranes including the Golgi, endosomes, and synaptic vesicles. It forms complexes with syntaxins and VAMPs to mediate membrane fusion. In neurons, it regulates synaptic vesicle recycling and neurotransmitter release. In skin, it is essential for lamellar granule secretion, explaining the ichthyosis phenotype in CEDNIK syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAP29 Knockout HEK293 Cell Line | EDJ-KQ50863 | Human | 9342 | Details Get a Quote |
| SNAP29 Knockout HeLa Cell Line | EDJ-KQ55132 | Human | 9342 | Details Get a Quote |
| SNAP29 Knockout A-549 Cell Line | EDJ-KQ63610 | Human | 9342 | Details Get a Quote |
| SNAP29 Knockout HCT 116 Cell Line | EDJ-KQ72077 | Human | 9342 | Details Get a Quote |
