SNX5 Gene - Sorting Nexin 5
Key regulator of endosomal trafficking and retromer complex function
Gene Information Card
| Symbol | SNX5 |
|---|---|
| Full Name | Sorting Nexin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 27131 ncbi.nlm.nih.gov/gene/27131 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y5X3 |
| OMIM ID | 605937 |
| HGNC ID | 14968 |
| Aliases | SNX5, FLJ10829, MGC111024 |
Description
SNX5 (Sorting Nexin 5) encodes a member of the sorting nexin family, which contains a phox (PX) domain and a BAR (Bin/Amphiphysin/Rvs) domain. The protein is involved in intracellular trafficking, endosomal sorting, and retromer complex assembly. It plays a role in regulating cell surface receptor recycling and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered endosomal trafficking may affect receptor signaling and cell proliferation | COSMIC; somatic mutations reported in multiple cancer types |
| Neurodegenerative disorders | Potential role in retromer dysfunction affecting amyloid precursor protein processing | Inferred from retromer complex studies; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.3 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1042C>T (p.Arg348Trp) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.1234_1235insA (p.Thr412AsnfsTer2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting PX or BAR domain function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SNX5.
Dominant Negative (DN)
Not established; potential if mutant protein interferes with retromer complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retromer complex-mediated endosomal recycling (Reactome: R-HSA-8856828)
• Endosomal sorting (KEGG: hsa04144)
Protein Summary
SNX5 is a 404-amino acid protein containing an N-terminal PX domain that binds phosphoinositides and a C-terminal BAR domain that mediates membrane curvature and dimerization. It forms a complex with SNX1, SNX2, or SNX6 to constitute the retromer complex, which is essential for endosome-to-Golgi retrieval of transmembrane receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX5 Knockout HEK293 Cell Line | EDJ-KQ8688 | Human | 27131 | Details Get a Quote |
| SNX5 Knockout A-549 Cell Line | EDJ-KQ34897 | Human | 27131 | Details Get a Quote |
| SNX5 Knockout HCT 116 Cell Line | EDJ-KQ34898 | Human | 27131 | Details Get a Quote |
| SNX5 Knockout HeLa Cell Line | EDJ-KQ34899 | Human | 27131 | Details Get a Quote |
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