SNX4 (Sorting Nexin 4)
A key regulator of endosomal sorting and membrane trafficking
Gene Information Card
| Symbol | SNX4 |
|---|---|
| Full Name | Sorting Nexin 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q21.1 |
| NCBI Gene ID | 8723 ncbi.nlm.nih.gov/gene/8723 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9Y3X0 |
| OMIM ID | 607013 |
| HGNC ID | 11176 |
| Aliases | ATG24A, MGC111102 |
Description
SNX4 (Sorting Nexin 4) encodes a member of the sorting nexin family, characterized by a phox (PX) domain that binds phosphoinositides and mediates membrane association. SNX4 is involved in endosomal sorting, retrograde transport from endosomes to the trans-Golgi network, and autophagy. It functions as part of the retromer complex and regulates the trafficking of various transmembrane proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | SNX4 may influence amyloid precursor protein (APP) trafficking and processing, contributing to amyloid-beta accumulation. | PMID: 21119684 |
| Cancer (general) | Altered SNX4 expression affects receptor tyrosine kinase recycling and signaling, potentially promoting tumorigenesis. | COSMIC: SNX4 mutations in various cancers |
| Neurodegenerative disorders | Impaired endosomal sorting due to SNX4 dysfunction may disrupt neuronal protein homeostasis. | PMID: 24239381 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| SH-SY5Y | 16.2 | Neuroblastoma cells |
| HepG2 | 9.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.1789_1790insA (p.Thr597AsnfsTer2) | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr597AsnfsTer2) are predicted to cause nonsense-mediated decay or truncation, leading to loss of SNX4 function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SNX4.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SNX4.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • protein transport |
| • phosphatidylinositol binding | • protein homodimerization activity |
| • retromer complex | • autophagy |
Pathways
• Endosomal sorting (retromer complex)
• Autophagy (ATG8 conjugation system)
• EGFR recycling
Protein Summary
SNX4 is a 597-amino acid protein containing a PX domain that binds phosphatidylinositol 3-phosphate (PI3P) and a BAR-like domain that mediates membrane curvature. It forms homodimers and interacts with retromer components (VPS26, VPS29, VPS35) to facilitate cargo sorting. SNX4 also participates in autophagy by interacting with ATG8 family proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX4 Knockout HEK293 Cell Line | EDJ-KQ6341 | Human | 8723 | Details Get a Quote |
| SNX4 Knockout A-549 Cell Line | EDJ-KQ30280 | Human | 8723 | Details Get a Quote |
| SNX4 Knockout HCT 116 Cell Line | EDJ-KQ30281 | Human | 8723 | Details Get a Quote |
| SNX4 Knockout HeLa Cell Line | EDJ-KQ30282 | Human | 8723 | Details Get a Quote |
