SNX14: Sorting Nexin 14 Gene
A key player in endosomal trafficking and neurodevelopment
Gene Information Card
| Symbol | SNX14 |
|---|---|
| Full Name | Sorting Nexin 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.3 |
| NCBI Gene ID | 57231 ncbi.nlm.nih.gov/gene/57231 |
| Ensembl ID | ENSG00000135317 |
| UniProt ID | Q9Y5W7 |
| OMIM ID | 616105 |
| HGNC ID | 14976 |
| Aliases | FLJ12656, MGC131968, MGC149531, SCAR20 |
Description
SNX14 encodes a member of the sorting nexin family, characterized by a phox (PX) domain that binds phosphoinositides and mediates protein-protein interactions. The protein is involved in endosomal trafficking, lipid metabolism, and autophagy. Mutations in SNX14 cause autosomal recessive spinocerebellar ataxia type 20 (SCAR20), characterized by cerebellar atrophy, intellectual disability, and early-onset ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 20 (SCAR20) | Loss-of-function mutations in SNX14 disrupt endosomal sorting and lipid homeostasis, leading to neuronal dysfunction and cerebellar degeneration. | ClinVar, OMIM |
| Cerebellar atrophy with intellectual disability | Impaired SNX14-mediated trafficking affects Purkinje cell survival and synaptic function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 8.3 | Low |
| Testis | 6.1 | Low |
| Adipose tissue | 4.7 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HeLa (cervical carcinoma) | 7.8 | Epithelial |
| HEK293 (embryonic kidney) | 6.5 | Common expression system |
| U-87 MG (glioblastoma) | 9.2 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Loss of function; truncation of PX domain |
| c.1250_1251del (p.Glu417Glyfs*5) | Frameshift | Rare | Loss of function; premature termination |
| c.1483C>T (p.Arg495Trp) | Missense | Rare | Likely loss of function; disrupts protein stability |
| c.1756C>T (p.Arg586*) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Most SNX14 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to reduced protein levels or impaired PX domain function, causing SCAR20.
Gain of Function (GOF)
No gain-of-function mutations reported for SNX14.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal sorting complex required for transport (ESCRT)
• Phosphoinositide-mediated signaling
• Autophagy-lysosome pathway
Protein Summary
SNX14 is a 926-amino acid protein containing a PX domain that binds phosphatidylinositol-3-phosphate (PI3P), targeting it to early endosomes. It functions in endosomal trafficking, lipid droplet homeostasis, and autophagy. Loss of SNX14 leads to accumulation of autophagic vesicles and impaired lysosomal degradation, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX14 Knockout HEK293 Cell Line | EDJ-KQ15410 | Human | 57231 | Details Get a Quote |
| SNX14 Knockout A-549 Cell Line | EDJ-KQ46188 | Human | 57231 | Details Get a Quote |
| SNX14 Knockout HCT 116 Cell Line | EDJ-KQ46189 | Human | 57231 | Details Get a Quote |
| SNX14 Knockout HeLa Cell Line | EDJ-KQ46190 | Human | 57231 | Details Get a Quote |
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