SNX3 (Sorting Nexin 3)
A key regulator of endosomal sorting and retromer complex function
Gene Information Card
| Symbol | SNX3 |
|---|---|
| Full Name | Sorting Nexin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 8724 ncbi.nlm.nih.gov/gene/8724 |
| Ensembl ID | ENSG00000112365 |
| UniProt ID | O60493 |
| OMIM ID | 605930 |
| HGNC ID | 11174 |
| Aliases | SDP3, VPS5 (yeast homolog) |
Description
SNX3 encodes sorting nexin 3, a member of the sorting nexin family involved in intracellular trafficking. SNX3 contains a phox homology (PX) domain that binds phosphatidylinositol 3-phosphate, targeting it to early endosomes. It functions as a component of the retromer complex, mediating endosome-to-Golgi retrieval of cargo proteins such as the Wntless/Wnt transporter. SNX3 is also implicated in autophagy and endosomal sorting of signaling receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease (PD) | SNX3 variants may impair retromer-mediated trafficking of lysosomal enzymes, contributing to alpha-synuclein accumulation. | ClinVar, PMID: 29581253 |
| Neurodevelopmental disorder with microcephaly and seizures | Homozygous loss-of-function mutations disrupt endosomal sorting, leading to neuronal dysfunction. | OMIM, PMID: 31564436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| SH-SY5Y | 14.1 | Medium expression |
| HeLa | 10.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Impaired PX domain binding to PI3P |
| c.404_405del (p.Glu135Glyfs*12) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to absent or non-functional SNX3 protein, disrupting retromer-mediated sorting.
Gain of Function (GOF)
Not reported for SNX3.
Dominant Negative (DN)
Not reported for SNX3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006886 – intracellular protein transport | • GO:0005769 – early endosome |
| • GO:0035091 – phosphatidylinositol binding | • GO:0030904 – retromer complex |
| • GO:0015031 – protein transport |
Pathways
• Retromer-mediated endosomal sorting (Reactome: R-HSA-6811434)
• Wnt signaling pathway (via Wntless retrieval)
Protein Summary
SNX3 is a 162-amino acid protein (18.7 kDa) containing a single PX domain. It localizes to early endosomes and associates with the retromer complex (VPS26, VPS29, VPS35) to facilitate cargo sorting. SNX3 is highly conserved in eukaryotes and is essential for Wntless recycling and lysosomal enzyme trafficking. Loss of SNX3 function leads to endosomal trafficking defects and is linked to neurodegenerative and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX32 Knockout HEK293 Cell Line | EDJ-KQ2571 | Human | 254122 | Details Get a Quote |
| SNX3 Knockout HEK293 Cell Line | EDJ-KQ3616 | Human | 8724 | Details Get a Quote |
| SNX30 Knockout HEK293 Cell Line | EDJ-KQ11645 | Human | 401548 | Details Get a Quote |
| SNX33 Knockout HEK293 Cell Line | EDJ-KQ11869 | Human | 257364 | Details Get a Quote |
| SNX31 Knockout HEK293 Cell Line | EDJ-KQ15413 | Human | 169166 | Details Get a Quote |
| SNX30 Knockout A-549 Cell Line | EDJ-KQ40002 | Human | 401548 | Details Get a Quote |
| SNX30 Knockout HeLa Cell Line | EDJ-KQ40003 | Human | 401548 | Details Get a Quote |
| SNX32 Knockout HeLa Cell Line | EDJ-KQ23252 | Human | 254122 | Details Get a Quote |
| SNX3 Knockout A-549 Cell Line | EDJ-KQ25543 | Human | 8724 | Details Get a Quote |
| SNX3 Knockout HCT 116 Cell Line | EDC08246 | Human | 8724 | Details Get a Quote |
| SNX3 Knockout HeLa Cell Line | EDJ-KQ25545 | Human | 8724 | Details Get a Quote |
| SNX30 Knockout HCT 116 Cell Line | EDJ-KQ38708 | Human | 401548 | Details Get a Quote |
| SNX33 Knockout A-549 Cell Line | EDJ-KQ40294 | Human | 257364 | Details Get a Quote |
| SNX33 Knockout HCT 116 Cell Line | EDJ-KQ40295 | Human | 257364 | Details Get a Quote |
| SNX33 Knockout HeLa Cell Line | EDJ-KQ40296 | Human | 257364 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
