SNX13: Sorting Nexin 13 Gene
A key regulator of endosomal trafficking and signaling, implicated in ciliopathies and cancer.
Gene Information Card
| Symbol | SNX13 |
|---|---|
| Full Name | Sorting Nexin 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 23161 ncbi.nlm.nih.gov/gene/23161 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9Y2X0 |
| OMIM ID | 606590 |
| HGNC ID | 15990 |
| Aliases | KIAA0713, RGS-PX1 |
Description
SNX13 encodes sorting nexin 13, a member of the sorting nexin family involved in intracellular trafficking. It contains a Phox (PX) domain that binds phosphatidylinositol-3-phosphate (PtdIns(3)P), targeting it to early endosomes. SNX13 also possesses a regulator of G protein signaling (RGS) domain, enabling it to function as a GTPase-activating protein (GAP) for Gα subunits, thereby modulating G protein-coupled receptor (GPCR) signaling. The protein plays a critical role in endosomal sorting, ciliary transport, and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy (e.g., Joubert syndrome-related disorder) | Loss of SNX13 disrupts endosomal trafficking to the primary cilium, impairing ciliary signaling and function. | ClinVar; PMID: 25728773 |
| Hepatocellular carcinoma | SNX13 overexpression correlates with poor prognosis; may promote tumor growth via altered endosomal signaling and GPCR regulation. | COSMIC; PMID: 31509768 |
| Breast cancer | SNX13 mutations and altered expression linked to tumor progression; potential role in endocytic regulation of growth factor receptors. | COSMIC; PMID: 28481359 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells; high expression |
| HepG2 | 7.5 | Hepatocellular carcinoma cells; moderate expression |
| MCF7 | 5.2 | Breast cancer cells; low expression |
| A549 | 4.8 | Lung carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of PX domain, disrupts endosomal localization |
| c.567G>A (p.Gly189Arg) | Missense | 0.2% | Gain of function?; alters RGS domain, may impair GAP activity |
| c.890_891insA (p.Val297fs) | Frameshift | <0.1% | Loss of function; premature stop, likely nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Val297fs) that truncate the PX or RGS domains, leading to loss of endosomal targeting or GAP activity.
Gain of Function (GOF)
Missense mutations (e.g., p.Gly189Arg) that may enhance or alter GAP activity, potentially dysregulating GPCR signaling.
Dominant Negative (DN)
Not well characterized; possible if mutant SNX13 interferes with wild-type protein complex formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal trafficking (R-HSA-5653656)
• G alpha (i) signaling events (R-HSA-418594)
• Cargo trafficking to the cilium (R-HSA-5620912)
Protein Summary
SNX13 is a 1031-amino acid protein with a PX domain (residues 1-130) that binds PtdIns(3)P, targeting it to early endosomes, and an RGS domain (residues 400-550) that acts as a GAP for Gαi and Gαq subunits. It forms homodimers and interacts with other sorting nexins (e.g., SNX1, SNX2) to regulate endosomal sorting. The protein is essential for ciliary protein trafficking and GPCR desensitization. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX13 Knockout HEK293 Cell Line | EDJ-KQ7859 | Human | 23161 | Details Get a Quote |
| SNX13 Knockout HeLa Cell Line | EDJ-KQ32102 | Human | 23161 | Details Get a Quote |
| SNX13 Knockout A-549 Cell Line | EDJ-KQ33427 | Human | 23161 | Details Get a Quote |
| SNX13 Knockout HCT 116 Cell Line | EDJ-KQ33428 | Human | 23161 | Details Get a Quote |
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