SNX7 Gene - Sorting Nexin 7
Comprehensive genomic and proteomic overview of SNX7, a member of the sorting nexin family involved in intracellular trafficking and signaling.
Gene Information Card
| Symbol | SNX7 |
|---|---|
| Full Name | Sorting Nexin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.3 |
| NCBI Gene ID | 51334 ncbi.nlm.nih.gov/gene/51334 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9UNH6 |
| OMIM ID | 615718 |
| HGNC ID | 14974 |
| Aliases | SNX7A, SNX7B |
Description
SNX7 (Sorting Nexin 7) is a protein-coding gene that encodes a member of the sorting nexin family. Sorting nexins are involved in intracellular trafficking, endosomal sorting, and signaling. SNX7 contains a Phox (PX) domain that binds phosphoinositides and is implicated in membrane remodeling and protein transport. The gene is located on chromosome 1p21.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 4.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Medium |
| Testis | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | RNA expression moderate |
| HeLa | 5.5 | RNA expression low |
| K562 | 4.3 | RNA expression low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • phosphatidylinositol binding (GO:0035091) |
| • endosome (GO:0005768) | • early endosome (GO:0005769) |
| • late endosome (GO:0005770) |
Pathways
• Endosomal sorting pathway
• Phosphoinositide signaling
Protein Summary
The SNX7 protein (UniProt Q9UNH6) is 453 amino acids long and contains a PX domain that binds phosphatidylinositol 3-phosphate (PI3P). It localizes to early and late endosomes and is involved in endosomal trafficking and membrane tubulation. The protein is widely expressed, with highest levels in testis and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX7 Knockout HEK293 Cell Line | EDJ-KQ11074 | Human | 51375 | Details Get a Quote |
| SNX7 Knockout A-549 Cell Line | EDJ-KQ38999 | Human | 51375 | Details Get a Quote |
| SNX7 Knockout HCT 116 Cell Line | EDJ-KQ39000 | Human | 51375 | Details Get a Quote |
| SNX7 Knockout HeLa Cell Line | EDJ-KQ39001 | Human | 51375 | Details Get a Quote |
