SNX17: Sorting Nexin 17 – Endosomal Trafficking Regulator
A key modulator of integrin and LDL receptor recycling, implicated in cell adhesion, migration, and cancer progression.
Gene Information Card
| Symbol | SNX17 |
|---|---|
| Full Name | Sorting Nexin 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 9784 ncbi.nlm.nih.gov/gene/9784 |
| Ensembl ID | ENSG00000115234 |
| UniProt ID | Q15036 |
| OMIM ID | 605962 |
| HGNC ID | 11179 |
| Aliases | KIAA0064, SNX17A, SNX17B |
Description
SNX17 encodes a member of the sorting nexin family, characterized by a phox homology (PX) domain that binds phosphoinositides. The protein functions in endosomal trafficking, specifically recycling internalized cargo such as integrins and LDL receptors back to the plasma membrane, thereby regulating cell adhesion, migration, and lipid uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SNX17 expression disrupts integrin recycling, promoting invasive migration and metastasis. | COSMIC; PMID: 25605274 |
| Atherosclerosis | Impaired LDL receptor recycling due to SNX17 dysfunction leads to reduced hepatic LDL clearance. | PMID: 20068046 |
| Alzheimer's disease | SNX17 modulates APP trafficking and processing; altered levels may affect amyloid-beta production. | PMID: 22948139 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.3 | Medium |
| Lung | 10.8 | Medium |
| Heart | 8.2 | Low |
| Kidney | 14.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Ubiquitous expression |
| HEK293 | 16.2 | High expression |
| HepG2 | 14.8 | Moderate expression |
| A549 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown; predicted damaging by PolyPhen-2 |
| c.1120_1121insA | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the PX domain or C-terminal region impair endosomal localization and cargo recycling.
Gain of Function (GOF)
Not documented in literature or curated databases.
Dominant Negative (DN)
Not reported; SNX17 functions as a monomer, and dominant-negative effects have not been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal recycling pathway (Reactome: R-HSA-432722)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
• LDL receptor recycling (Reactome: R-HSA-8866423)
Protein Summary
SNX17 is a 470-amino-acid protein containing an N-terminal PX domain that binds phosphatidylinositol 3-phosphate (PI3P) and a C-terminal FERM-like domain that interacts with NPxY motifs on cargo proteins. It localizes to early endosomes and facilitates the recycling of transmembrane receptors, including integrins and LDLR, by preventing their lysosomal degradation. This function is critical for cell adhesion, migration, and lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX17 Knockout HEK293 Cell Line | EDJ-KQ2617 | Human | 9784 | Details Get a Quote |
| SNX17 Knockout A-549 Cell Line | EDJ-KQ23343 | Human | 9784 | Details Get a Quote |
| SNX17 Knockout HCT 116 Cell Line | EDJ-KQ23344 | Human | 9784 | Details Get a Quote |
| SNX17 Knockout HeLa Cell Line | EDJ-KQ23345 | Human | 9784 | Details Get a Quote |
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