SNX29: Sorting Nexin 29 – A Multifunctional Regulator in Cellular Trafficking and Disease
Comprehensive genomic and proteomic analysis of SNX29, a sorting nexin family member implicated in endosomal sorting, neurodevelopment, and cancer.
Gene Information Card
| Symbol | SNX29 |
|---|---|
| Full Name | Sorting Nexin 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 92017 ncbi.nlm.nih.gov/gene/92017 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8TEQ8 |
| OMIM ID | 614956 |
| HGNC ID | 30588 |
| Aliases | RUNDC2A, FLJ22662, MGC138290 |
Description
SNX29 (sorting nexin 29) encodes a member of the sorting nexin family, characterized by a phox (PX) domain that binds phosphoinositides and mediates membrane association. The protein is involved in endosomal trafficking, receptor sorting, and signal transduction. SNX29 is also known as RUNDC2A due to a RUN domain that may regulate GTPase signaling. Expression is enriched in brain and testis, and alterations have been linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Disruption of endosomal sorting pathways affecting neuronal connectivity and synaptic function. | ClinVar; PMID: 25363760 |
| Schizophrenia | Genetic association studies implicate SNX29 variants in susceptibility. | OMIM #614956; PMID: 22543975 |
| Breast cancer | Somatic mutations and altered expression may influence tumor progression via trafficking of growth factor receptors. | COSMIC; PMID: 26619011 |
| Colorectal cancer | Copy number alterations and expression changes observed in tumor samples. | COSMIC; PMID: 22810696 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Lung | 6.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.0 | Neuronal model |
| HEK293 (embryonic kidney) | 9.2 | Common expression system |
| MCF7 (breast cancer) | 7.5 | Hormone-responsive |
| HCT116 (colorectal carcinoma) | 6.1 | Colorectal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; truncation of PX domain |
| c.782G>A (p.Arg261His) | Missense | 0.02% | Potential impact on phosphoinositide binding |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | <0.01% | Loss of function; premature stop |
| c.1573A>G (p.Ile525Val) | Missense | 0.05% | Unknown significance; located in RUN domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg349*, p.Thr412Asnfs*5) are predicted to cause loss of function via truncation or nonsense-mediated decay.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal sorting complex required for transport (ESCRT) – indirect
• Phosphoinositide-mediated signaling
• Receptor tyrosine kinase trafficking
Protein Summary
SNX29 is a 548-amino-acid protein containing an N-terminal RUN domain (involved in GTPase signaling) and a C-terminal PX domain (phosphoinositide binding). It localizes to early endosomes and regulates the trafficking of internalized receptors. The protein is highly expressed in brain and testis, suggesting roles in neuronal function and spermatogenesis. Structural studies indicate that the PX domain preferentially binds phosphatidylinositol-3-phosphate (PI3P), a hallmark of endosomal membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX29 Knockout HEK293 Cell Line | EDJ-KQ10807 | Human | 92017 | Details Get a Quote |
| SNX29 Knockout A-549 Cell Line | EDJ-KQ38455 | Human | 92017 | Details Get a Quote |
| SNX29 Knockout HCT 116 Cell Line | EDJ-KQ38456 | Human | 92017 | Details Get a Quote |
| SNX29 Knockout HeLa Cell Line | EDJ-KQ38457 | Human | 92017 | Details Get a Quote |
