SNX18
Sorting Nexin 18
Gene Information Card
| Symbol | SNX18 |
|---|---|
| Full Name | Sorting Nexin 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 112574 ncbi.nlm.nih.gov/gene/112574 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q96RF0 |
| OMIM ID | 615906 |
| HGNC ID | 19245 |
| Aliases | SH3PX2, SH3PXD3B, SNX18A, SNX18B |
Description
SNX18 encodes a member of the sorting nexin family, which are involved in intracellular trafficking and endosomal sorting. The protein contains a Phox homology (PX) domain that binds phosphoinositides and a BAR domain that mediates membrane curvature. SNX18 plays a role in endocytosis, autophagy, and regulation of cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered endosomal trafficking may promote tumor progression | COSMIC; literature |
| Neurodegenerative disorders | Impaired autophagy and vesicle trafficking | Literature; inferred from function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.4 | Low expression |
| A549 | 6.9 | Low expression |
| MCF7 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; likely benign |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown; predicted tolerated |
| c.1567_1568insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1567_1568insA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal trafficking (Reactome: R-HSA-5653656)
• Autophagy (Reactome: R-HSA-9612973)
Protein Summary
SNX18 is a 655-amino acid protein containing an N-terminal SH3 domain, a central PX domain, and a C-terminal BAR domain. It localizes to endosomes and the plasma membrane, where it regulates membrane tubulation and vesicle formation. SNX18 interacts with dynamin and other endocytic proteins to facilitate clathrin-independent endocytosis and autophagosome formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX18 Knockout HEK293 Cell Line | EDJ-KQ7386 | Human | 112574 | Details Get a Quote |
| SNX18 Knockout A-549 Cell Line | EDJ-KQ32529 | Human | 112574 | Details Get a Quote |
| SNX18 Knockout HCT 116 Cell Line | EDJ-KQ32530 | Human | 112574 | Details Get a Quote |
| SNX18 Knockout HeLa Cell Line | EDJ-KQ32531 | Human | 112574 | Details Get a Quote |
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