SNX12: Sorting Nexin 12
A member of the sorting nexin family involved in intracellular trafficking and endosomal signaling.
Gene Information Card
| Symbol | SNX12 |
|---|---|
| Full Name | Sorting Nexin 12 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 29934 ncbi.nlm.nih.gov/gene/29934 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q9UMY4 |
| OMIM ID | 300930 |
| HGNC ID | 14976 |
| Aliases | SNX12, sorting nexin-12, MGC:26692 |
Description
SNX12 encodes sorting nexin 12, a member of the sorting nexin family characterized by a Phox (PX) domain that binds phosphoinositides. SNX12 is involved in endosomal trafficking, retromer complex function, and regulation of cell signaling. It is widely expressed and implicated in cancer and neurodegenerative processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SNX12 overexpression correlates with poor prognosis; may promote tumor growth via altered endosomal signaling. | COSMIC; PMID: 25691885 |
| Alzheimer disease | SNX12 interacts with retromer components; reduced expression linked to amyloid precursor protein (APP) trafficking defects. | OMIM 300930; PMID: 22171327 |
| Colorectal cancer | SNX12 upregulation associated with metastasis and chemoresistance. | COSMIC; PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Breast | 15.2 | Medium |
| Colon | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical cancer cell line |
| MCF7 | 16.3 | Breast cancer cell line |
| A549 | 9.2 | Lung cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown; predicted benign |
| c.214C>T | missense | <0.01% | Unknown; predicted tolerated |
| c.345_346insA | frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein; observed in rare cancer samples (COSMIC).
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • phosphatidylinositol binding (GO:0035091) |
| • endosome (GO:0005768) | • retromer complex (GO:0030904) |
| • endocytosis (GO:0006897) |
Pathways
• Retromer-mediated cargo recycling (Reactome: R-HSA-917937)
• Endosomal trafficking (KEGG: hsa04144)
Protein Summary
Sorting nexin 12 is a 162-amino acid protein containing a PX domain that binds phosphatidylinositol 3-phosphate, targeting it to early endosomes. It associates with the retromer complex (VPS26, VPS29, VPS35) to regulate recycling of transmembrane receptors, including those involved in cell signaling and amyloid precursor protein processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX12 Knockout HEK293 Cell Line | EDJ-KQ3337 | Human | 29934 | Details Get a Quote |
| SNX12 Knockout A-549 Cell Line | EDJ-KQ24977 | Human | 29934 | Details Get a Quote |
| SNX12 Knockout HCT 116 Cell Line | EDJ-KQ24978 | Human | 29934 | Details Get a Quote |
| SNX12 Knockout HeLa Cell Line | EDJ-KQ24979 | Human | 29934 | Details Get a Quote |
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