SNX9: Sorting Nexin 9 – Endocytic Adaptor and Signaling Regulator
Comprehensive gene card for SNX9, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SNX9 |
|---|---|
| Full Name | Sorting Nexin 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 51429 ncbi.nlm.nih.gov/gene/51429 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q9Y5X1 |
| OMIM ID | 609922 |
| HGNC ID | 11176 |
| Aliases | SH3PX1, SDP1, SH3PXD3A |
Description
SNX9 encodes a member of the sorting nexin family, characterized by a Phox (PX) domain that binds phosphoinositides and a Src homology 3 (SH3) domain. The protein functions as an adaptor in clathrin-mediated endocytosis, regulating membrane tubulation and vesicle formation. It also participates in actin cytoskeleton remodeling and signaling pathways. SNX9 is ubiquitously expressed with highest levels in brain, testis, and hematopoietic cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SNX9 overexpression enhances EGFR recycling and signaling, promoting tumor cell proliferation. | COSMIC; PMID: 23431136 |
| Lung adenocarcinoma | SNX9 upregulation correlates with poor prognosis; promotes invadopodia formation and metastasis. | COSMIC; PMID: 25605248 |
| Neurodegenerative disorders (Alzheimer's) | SNX9 interacts with BACE1 and modulates amyloid precursor protein processing. | UniProt; PMID: 19033377 |
| Hereditary spastic paraplegia (SPG) | Rare SNX9 missense variants (e.g., p.Arg498Trp) identified in patients with axonal degeneration. | ClinVar; PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 22.1 | High |
| Lung | 12.3 | Medium |
| Breast | 9.8 | Medium |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | Embryonic kidney; high endogenous SNX9 |
| HeLa | 15.2 | Cervical carcinoma; moderate expression |
| MCF7 | 12.1 | Breast cancer; elevated in ER+ lines |
| A549 | 14.5 | Lung adenocarcinoma; high expression |
| SH-SY5Y | 21.3 | Neuroblastoma; used for neuronal studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg498Trp | Missense | <0.01% | Impaired SH3 domain binding; associated with spastic paraplegia (ClinVar) |
| p.Gly274Asp | Missense | <0.01% | Reduced PX domain lipid binding; loss of endocytic function (UniProt) |
| p.Pro410Leu | Missense | 0.02% | Altered protein stability; observed in lung cancer (COSMIC) |
| p.Glu335Lys | Missense | 0.01% | Unknown functional effect; reported in breast cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
p.Gly274Asp reduces phosphoinositide binding and endocytosis.
Gain of Function (GOF)
Not clearly documented; overexpression in cancers suggests possible gain-of-function via increased endocytic recycling.
Dominant Negative (DN)
p.Arg498Trp may act dominant-negative by disrupting SH3-mediated interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (Reactome R-HSA-8856828)
• EGFR downregulation (Reactome R-HSA-177929)
• Endosomal sorting complex required for transport (ESCRT) (Reactome R-HSA-917729)
Protein Summary
SNX9 is a 595-amino acid protein (UniProt Q9Y5X1) containing an N-terminal SH3 domain, a central PX domain, and a C-terminal BAR domain. It localizes to clathrin-coated pits and tubular endosomes, where it promotes membrane curvature and fission. SNX9 interacts with dynamin, AP-2, and N-WASP to coordinate vesicle scission and actin polymerization. Its expression is dysregulated in several cancers, and rare mutations are linked to neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX9 Knockout HEK293 Cell Line | EDJ-KQ3063 | Human | 51429 | Details Get a Quote |
| SNX9 Knockout A-549 Cell Line | EDJ-KQ24326 | Human | 51429 | Details Get a Quote |
| SNX9 Knockout HCT 116 Cell Line | EDJ-KQ24327 | Human | 51429 | Details Get a Quote |
| SNX9 Knockout HeLa Cell Line | EDJ-KQ24328 | Human | 51429 | Details Get a Quote |
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