SNAP91
protein-codingsynaptosome associated protein 91
Gene summary
Predicted to enable several functions, including clathrin heavy chain binding activity; clathrin-cargo adaptor activity; and phospholipid binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in cytosol; postsynaptic density; and synaptic membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~156.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SNAP91 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001242792.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 5 | 7 | |||
| missense | 108 | 2 | 1 | 111 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 109 | 4 | 6 | 119 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001229721.1 | 28 | MANE Select | |
| Ensembl | ENSP00000358708.2 | 28 | MANE Select | |
| RefSeq | NP_001229722.1 | 26 | Standard | |
| RefSeq | NP_001229723.1 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- Membrane Trafficking
- Clathrin-mediated endocytosis
- Cargo recognition for clathrin-mediated endocytosis
Biological Process
- endocytosis
- vesicle budding from membrane
- protein transport
- synaptic vesicle budding from presynaptic endocytic zone membrane
- clathrin coat assembly
Molecular Function
- SNARE binding
- protein binding
- 1-phosphatidylinositol binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein kinase binding
Cellular Component
- plasma membrane
- clathrin-coated pit
- synaptic vesicle
- clathrin-coated vesicle
- presynaptic membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000439399
- Coding exons
- 28
- Length
- 156812
- Individuals with no LoFs
- 124632
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 6
- Defined
- 124638
- p
- 0.0000241
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.16 | 327 | 457 | 0.716 | 0.0000220 | 5772 |
| Missense (PolyPhen) | 96 | 122.64 | 0.78276 | 1495 | ||
| Synonymous | 1.16 | 153 | 172 | 0.888 | 0.00000985 | 1921 |
| Loss of Function | 5.44 | 3 | 40.2 | 0.0747 | 0.00000185 | 543 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000084 | 0.000065 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.000066 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.147
Intolerance Scores
- RVIS EVS
- -0.57
- RVIS percentile EVS
- 18.96
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.584
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |