SNX10: Sorting Nexin 10 – Endosomal Sorting and Osteoclast Function
A key regulator of endosomal trafficking, osteoclast differentiation, and bone homeostasis; implicated in osteopetrosis and cancer.
Gene Information Card
| Symbol | SNX10 |
|---|---|
| Full Name | Sorting Nexin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 29887 ncbi.nlm.nih.gov/gene/29887 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9Y5X1 |
| OMIM ID | 614780 |
| HGNC ID | 14976 |
| Aliases | FLJ10439, MGC10471 |
Description
SNX10 (Sorting Nexin 10) encodes a member of the sorting nexin family, which are involved in intracellular trafficking and endosomal sorting. The protein contains a phox (PX) domain that binds phosphoinositides and is critical for membrane association. SNX10 plays a key role in endosome-to-lysosome transport, osteoclast differentiation, and bone resorption. Mutations in SNX10 cause autosomal recessive osteopetrosis type 8 (OPTB8). Altered expression is also observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis, autosomal recessive 8 (OPTB8) | Loss-of-function mutations impair endosomal trafficking in osteoclasts, leading to defective bone resorption and increased bone density. | OMIM #614780; PMID: 22608503 |
| Gastric cancer | SNX10 overexpression promotes tumor growth and metastasis via activation of the PI3K/AKT pathway. | PMID: 31406129 |
| Hepatocellular carcinoma | SNX10 downregulation correlates with poor prognosis and may affect endosomal signaling. | PMID: 30348676 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 8.9 | Low |
| Lung | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 7.2 | Low expression |
| HepG2 (liver cancer) | 4.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.764G>A (p.Arg255Gln) | Missense | Rare | Loss of function; associated with osteopetrosis |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with osteopetrosis |
| c.106C>T (p.Arg36*) | Nonsense | Rare | Loss of function; associated with osteopetrosis |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss mutations in SNX10 impair endosomal trafficking and osteoclast function, leading to autosomal recessive osteopetrosis type 8.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SNX10.
Dominant Negative (DN)
No dominant-negative mutations described for SNX10.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal trafficking (R-HSA-5653656)
• PI3K/AKT signaling (R-HSA-1257604)
• Osteoclast differentiation (KEGG hsa04380)
Protein Summary
SNX10 is a 201-amino acid protein containing a PX domain that binds phosphatidylinositol 3-phosphate (PI3P), targeting it to early endosomes. It regulates endosome-to-lysosome trafficking and is essential for osteoclast maturation and bone resorption. Loss of SNX10 function leads to osteopetrosis due to defective osteoclast activity. In cancer, SNX10 modulates signaling pathways such as PI3K/AKT, influencing tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX10 Knockout HEK293 Cell Line | EDJ-KQ9063 | Human | 29887 | Details Get a Quote |
| SNX10 Knockout A-549 Cell Line | EDJ-KQ35529 | Human | 29887 | Details Get a Quote |
| SNX10 Knockout HCT 116 Cell Line | EDJ-KQ35530 | Human | 29887 | Details Get a Quote |
| SNX10 Knockout HeLa Cell Line | EDJ-KQ56116 | Human | 29887 | Details Get a Quote |
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