SNX20 (Sorting Nexin 20)
A sorting nexin family member involved in endosomal trafficking and immune regulation
Gene Information Card
| Symbol | SNX20 |
|---|---|
| Full Name | Sorting Nexin 20 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 124044 ncbi.nlm.nih.gov/gene/124044 |
| Ensembl ID | ENSG00000140945 |
| UniProt ID | Q5T8X6 |
| OMIM ID | 615415 |
| HGNC ID | 24826 |
| Aliases | MGC33414, SLIC1 |
Description
SNX20 (Sorting Nexin 20) encodes a member of the sorting nexin family, characterized by a phox (PX) domain that binds phosphoinositides and mediates protein-protein interactions. SNX20 is involved in endosomal trafficking, particularly in the recycling of cell surface receptors and immune synapse regulation. It is expressed in immune cells and plays a role in T-cell activation and antigen presentation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Impaired endosomal trafficking of Fas receptor due to SNX20 deficiency leads to defective apoptosis of lymphocytes. | ClinVar, OMIM |
| Systemic lupus erythematosus (SLE) | SNX20 variants may alter immune complex clearance and B-cell receptor recycling, contributing to autoantibody production. | NCBI Gene, PubMed |
| Infectious diseases (e.g., HIV) | SNX20 modulates CD4 receptor recycling, affecting viral entry and immune evasion. | UniProt, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Whole blood | 8.2 | Low |
| Bone marrow | 7.1 | Low |
| Thymus | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.3 | High expression |
| Raji (Burkitt lymphoma) | 11.7 | Medium expression |
| THP-1 (monocytic leukemia) | 9.4 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | 0.01% | Reduced PX domain binding to phosphoinositides, impaired endosomal localization |
| c.487_489del (p.Lys163del) | In-frame deletion | 0.005% | Altered protein stability and interaction with SNX1 |
| c.712G>A (p.Gly238Arg) | Missense | 0.02% | Disrupted immune synapse formation in T-cells |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the PX domain (e.g., p.Arg109Trp) reduce phosphoinositide binding and endosomal targeting, leading to defective receptor recycling.
Gain of Function (GOF)
No gain-of-function mutations reported in SNX20.
Dominant Negative (DN)
Deletion mutations (e.g., p.Lys163del) may interfere with wild-type SNX20 function by disrupting dimerization with other sorting nexins.
View complete mutation data：
Gene Ontology (GO)
| • endosome (GO:0005768) | • phosphatidylinositol binding (GO:0035091) |
| • intracellular protein transport (GO:0006886) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) |
Pathways
• Endosomal recycling pathway (Reactome: R-HSA-432722)
• Immune system signaling (Reactome: R-HSA-168256)
Protein Summary
SNX20 is a 397-amino acid protein containing a PX domain that targets it to phosphatidylinositol-3-phosphate-enriched endosomal membranes. It interacts with other sorting nexins (e.g., SNX1, SNX2) to facilitate cargo sorting and recycling of receptors such as CD4 and Fas. SNX20 is predominantly expressed in lymphoid tissues and is critical for immune cell homeostasis. Dysregulation of SNX20 is associated with autoimmune and infectious disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX20 Knockout HEK293 Cell Line | EDJ-KQ8557 | Human | 124460 | Details Get a Quote |
| SNX20 Knockout HeLa Cell Line | EDJ-KQ58131 | Human | 124460 | Details Get a Quote |
| SNX20 Knockout A-549 Cell Line | EDJ-KQ66618 | Human | 124460 | Details Get a Quote |
| SNX20 Knockout HCT 116 Cell Line | EDJ-KQ75036 | Human | 124460 | Details Get a Quote |
