SNX2 Gene - Sorting Nexin 2
A key regulator of endosomal trafficking and protein sorting
Gene Information Card
| Symbol | SNX2 |
|---|---|
| Full Name | Sorting Nexin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 6643 ncbi.nlm.nih.gov/gene/6643 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | O60749 |
| OMIM ID | 605254 |
| HGNC ID | 11173 |
| Aliases | SNX2L, SNX2A, SNX2B |
Description
SNX2 encodes sorting nexin 2, a member of the sorting nexin family involved in intracellular trafficking. It functions as a component of the retromer complex, which mediates retrograde transport of cargo from endosomes to the trans-Golgi network. SNX2 contains a Phox (PX) domain that binds phosphatidylinositol 3-phosphate, targeting it to endosomal membranes. It plays a role in endosomal sorting, receptor recycling, and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SNX2 expression may disrupt retromer-mediated trafficking of growth factor receptors, promoting oncogenic signaling. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Impaired retromer function due to SNX2 dysregulation can affect amyloid precursor protein (APP) trafficking, contributing to Alzheimer's disease pathology. | NCBI Gene, OMIM |
| Infectious diseases | SNX2 is exploited by intracellular pathogens (e.g., Salmonella) to modify endosomal compartments for survival. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 22.3 | High |
| Spleen | 20.1 | High |
| Bone marrow | 18.7 | High |
| Brain | 8.5 | Medium |
| Liver | 6.2 | Medium |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 25.4 | High expression |
| HeLa (cervical) | 15.2 | Moderate expression |
| A549 (lung) | 12.8 | Moderate expression |
| HepG2 (liver) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | <0.1% | Unknown; predicted benign by in silico tools |
| c.1024G>A (p.Gly342Arg) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.1357_1359del (p.Lys453del) | In-frame deletion | <0.1% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SNX2; experimental knockdown in cell lines impairs retromer function.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retromer-mediated endosomal sorting (Reactome: R-HSA-8856828)
• Endosomal trafficking (KEGG: hsa04144)
Protein Summary
Sorting nexin 2 is a 519-amino acid protein (UniProt O60749) containing a PX domain that binds phosphoinositides. It forms a heterodimer with SNX1 or SNX5 and associates with the retromer core complex (VPS26, VPS29, VPS35) to facilitate endosome-to-Golgi retrieval of transmembrane receptors. SNX2 is ubiquitously expressed, with highest levels in lymphoid tissues. It is implicated in cancer, neurodegeneration, and host-pathogen interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX2 Knockout HEK293 Cell Line | EDJ-KQ5820 | Human | 6643 | Details Get a Quote |
| SNX20 Knockout HEK293 Cell Line | EDJ-KQ8557 | Human | 124460 | Details Get a Quote |
| SNX24 Knockout HEK293 Cell Line | EDJ-KQ8944 | Human | 28966 | Details Get a Quote |
| SNX25 Knockout HEK293 Cell Line | EDJ-KQ9114 | Human | 83891 | Details Get a Quote |
| SNX27 Knockout HEK293 Cell Line | EDJ-KQ9724 | Human | 81609 | Details Get a Quote |
| SNX21 Knockout HEK293 Cell Line | EDJ-KQ10567 | Human | 90203 | Details Get a Quote |
| SNX29 Knockout HEK293 Cell Line | EDJ-KQ10807 | Human | 92017 | Details Get a Quote |
| SNX2 Knockout A-549 Cell Line | EDJ-KQ27992 | Human | 6643 | Details Get a Quote |
| SNX24 Knockout HeLa Cell Line | EDJ-KQ34072 | Human | 28966 | Details Get a Quote |
| SNX21 Knockout A-549 Cell Line | EDJ-KQ38025 | Human | 90203 | Details Get a Quote |
| SNX21 Knockout HCT 116 Cell Line | EDJ-KQ38026 | Human | 90203 | Details Get a Quote |
| SNX21 Knockout HeLa Cell Line | EDJ-KQ38027 | Human | 90203 | Details Get a Quote |
| SNX2 Knockout HCT 116 Cell Line | EDJ-KQ29251 | Human | 6643 | Details Get a Quote |
| SNX2 Knockout HeLa Cell Line | EDJ-KQ29252 | Human | 6643 | Details Get a Quote |
| SNX24 Knockout A-549 Cell Line | EDJ-KQ35302 | Human | 28966 | Details Get a Quote |
