SNX21
Sorting Nexin 21: A Regulator of Endosomal Trafficking and Protein Sorting
Gene Information Card
| Symbol | SNX21 |
|---|---|
| Full Name | Sorting Nexin 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 90203 ncbi.nlm.nih.gov/gene/90203 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y5X5 |
| OMIM ID | 619206 |
| HGNC ID | 30521 |
| Aliases | SNX-L, SNX-L1, MGC13170 |
Description
SNX21 (Sorting Nexin 21) encodes a member of the sorting nexin family, characterized by a Phox (PX) domain that binds phosphoinositides. The protein is involved in endosomal trafficking and protein sorting, potentially functioning as a component of the retromer complex. SNX21 is ubiquitously expressed and plays a role in membrane remodeling and cargo recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | No known functional impact |
| c.100C>T | Synonymous | <0.01% | No known functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • phosphatidylinositol binding (GO:0035091) |
| • endosome (GO:0005768) | • cytoplasmic vesicle (GO:0031410) |
Pathways
• Retromer complex-mediated endosomal protein sorting
Protein Summary
SNX21 is a 162-amino acid protein containing a PX domain that binds phosphatidylinositol 3-phosphate (PI3P), targeting it to endosomal membranes. It is implicated in endosomal trafficking and may assist in cargo recognition for retromer-mediated recycling. Structural studies suggest it forms dimers and interacts with other sorting nexins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX21 Knockout HEK293 Cell Line | EDJ-KQ10567 | Human | 90203 | 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 |
