SNX11
Sorting Nexin 11: A Regulator of Endosomal Trafficking and Signaling
Gene Information Card
| Symbol | SNX11 |
|---|---|
| Full Name | Sorting Nexin 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 29916 ncbi.nlm.nih.gov/gene/29916 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q9Y5W7 |
| OMIM ID | 605098 |
| HGNC ID | 11176 |
| Aliases | SNX11, MGC:133080 |
Description
SNX11 encodes sorting nexin 11, a member of the sorting nexin family involved in intracellular trafficking. The protein contains a Phox (PX) domain that binds phosphoinositides, targeting it to endosomal membranes. SNX11 is implicated in retromer-mediated endosome-to-Golgi transport and may regulate cell signaling pathways. Expression is altered in certain cancers and neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SNX11 expression may disrupt endosomal trafficking of growth factor receptors, promoting oncogenic signaling. | COSMIC; PMID: 25691885 |
| Colorectal cancer | SNX11 downregulation correlates with poor prognosis; potential role in Wnt/β-catenin pathway modulation. | COSMIC; PMID: 28723890 |
| Alzheimer's disease | SNX11 interacts with retromer components; dysregulation may impair APP trafficking and amyloid-β production. | UniProt; PMID: 22144673 |
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 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney; model for trafficking studies |
| HeLa | 8.9 | Cervical carcinoma; moderate expression |
| SH-SY5Y | 14.1 | Neuroblastoma; used in neurodegeneration research |
| MCF7 | 7.2 | Breast cancer; reduced vs normal tissue |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Trp) | Missense | <0.01% | Unknown; located in PX domain, may affect phosphoinositide binding |
| c.601G>A (p.Gly201Ser) | Missense | <0.01% | Reported in COSMIC; functional impact not characterized |
| c.1033_1034insA | Frameshift | <0.01% | Predicted loss of function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1033_1034insA) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations described; potential if missense variants disrupt retromer complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • endosome (GO:0005768) | • phosphatidylinositol binding (GO:0035091) |
| • intracellular protein transport (GO:0006886) | • retrograde transport (GO:0042147) |
| • cytoplasm (GO:0005737) |
Pathways
• Retromer-mediated endosome-to-Golgi transport (Reactome: R-HSA-6811434)
• Endosomal sorting complex required for transport (ESCRT) (KEGG: hsa04144)
Protein Summary
Sorting nexin 11 is a 45 kDa protein (399 amino acids) with a single PX domain that binds phosphatidylinositol 3-phosphate (PI3P) on early endosomes. It associates with the retromer complex (VPS26, VPS29, VPS35) to facilitate recycling of transmembrane receptors (e.g., sortilin, CI-MPR) from endosomes to the trans-Golgi network. SNX11 may also modulate cell surface receptor signaling by controlling receptor availability. Expression is highest in brain and testis, with lower levels in most other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX11 Knockout HEK293 Cell Line | EDJ-KQ9081 | Human | 29916 | Details Get a Quote |
| SNX11 Knockout A-549 Cell Line | EDJ-KQ35570 | Human | 29916 | Details Get a Quote |
| SNX11 Knockout HCT 116 Cell Line | EDJ-KQ35571 | Human | 29916 | Details Get a Quote |
| SNX11 Knockout HeLa Cell Line | EDJ-KQ35572 | Human | 29916 | Details Get a Quote |
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