SNX16: Sorting Nexin 16 – A Key Regulator of Endosomal Trafficking
Comprehensive genomic, proteomic, and clinical insights into SNX16, a sorting nexin involved in intracellular membrane dynamics and associated with cancer and neurological disorders.
Gene Information Card
| Symbol | SNX16 |
|---|---|
| Full Name | Sorting Nexin 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104497 |
| UniProt ID | Q9Y5X9 |
| OMIM ID | 615674 |
| HGNC ID | 11176 |
| Aliases | MGC111111, SNX16A, SNX16B |
Description
SNX16 (sorting nexin 16) encodes a member of the sorting nexin family, which contains a Phox (PX) domain that binds phosphoinositides and mediates protein-protein interactions. SNX16 is involved in endosomal trafficking, particularly in the recycling of membrane proteins and the regulation of retromer complex function. It localizes to early and recycling endosomes and plays a role in the sorting of internalized receptors. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SNX16 overexpression may alter endosomal trafficking of growth factor receptors, promoting oncogenic signaling. | COSMIC; PMID: 25691885 |
| Colorectal cancer | SNX16 mutations (e.g., missense) found in tumor samples; potential impact on Wnt/β-catenin pathway via endosomal sorting of LRP6. | COSMIC; PMID: 26619011 |
| Neurodevelopmental disorder | Rare SNX16 variants identified in patients with intellectual disability; disruption of neuronal endosomal trafficking. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Breast | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 8.9 | Cervical carcinoma; low expression |
| MCF7 | 12.3 | Breast cancer; medium expression |
| HCT116 | 11.5 | Colorectal carcinoma; medium expression |
| SH-SY5Y | 14.0 | Neuroblastoma; medium-high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | 0.02% (gnomAD) | Alters PX domain; potential loss of phosphoinositide binding |
| c.832C>T (p.Arg278Trp) | Missense | 0.01% (gnomAD) | Located in C-terminal region; functional impact unknown |
| c.1120_1121insA (p.Thr374Asnfs*5) | Frameshift | <0.01% (COSMIC) | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr374Asnfs*5) are predicted to cause loss of SNX16 function, impairing endosomal trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; missense variants (e.g., p.Arg166His) may alter but not clearly activate SNX16.
Dominant Negative (DN)
No evidence for dominant-negative effects; SNX16 likely functions as a monomer or in complexes, but dominant-negative mechanisms are not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal recycling pathway (Reactome: R-HSA-432722)
• Retromer-mediated cargo recycling (Reactome: R-HSA-432722)
• Clathrin-mediated endocytosis (Reactome: R-HSA-199991)
Protein Summary
SNX16 is a 397-amino-acid protein with a PX domain that binds phosphatidylinositol-3-phosphate (PI3P) and phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2). It localizes to early and recycling endosomes and interacts with components of the retromer complex (e.g., VPS26, VPS35). SNX16 regulates the recycling of internalized receptors such as the transferrin receptor and EGFR. Alternative splicing yields isoforms with distinct C-termini, potentially affecting subcellular localization and binding partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX16 Knockout HEK293 Cell Line | EDJ-KQ14657 | Human | 64089 | Details Get a Quote |
| SNX16 Knockout A-549 Cell Line | EDJ-KQ46191 | Human | 64089 | Details Get a Quote |
| SNX16 Knockout HCT 116 Cell Line | EDJ-KQ46192 | Human | 64089 | Details Get a Quote |
| SNX16 Knockout HeLa Cell Line | EDJ-KQ46193 | Human | 64089 | Details Get a Quote |
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