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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNX12
sorting nexin 12
Chromosome X · Xq13.1
NCBI Gene: 29934Ensembl: ENSG00000147164.13HGNC: HGNC:14976UniProt: Q3SYF1
34PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of protein transportnegative regulation of early endosome to late endosome transportphosphatidylinositol bindingearly endosomeAlzheimer diseaseAbnormality of refractionneurodegenerative diseasenail-patella syndrome
✦AI Summary

SNX12 (sorting nexin 12) is a member of the PX domain-containing sorting nexin family that plays essential roles in endosomal protein trafficking and membrane transport. SNX12 is primarily localized to early endosomes, where its localization depends on binding to 3-phosphoinositides 1. The protein functions in multiple stages of intracellular trafficking, particularly in the early phase of cargo transport and receptor recycling upstream of other retromer components 2. SNX12 plays a key role in intraluminal vesicle formation and maturation of early endosomes into late endosomes, thereby regulating selective endocytic transport for degradation 2. The protein shares redundant functions with SNX3 in multivesicular endosome biogenesis, and overexpression prevents multivesicular endosome detachment from early endosomes, inhibiting the degradative pathway 1. SNX12 has clinical relevance in neurodegeneration, as it interacts with BACE1 and regulates β-amyloid production, with reduced SNX12 levels observed in Alzheimer's disease patient brains 3. Additionally, SNX12 serves as a neuroprotective factor, as demonstrated by its role in mitigating isoflurane-induced neurotoxicity in diabetic rats 4.

Sources cited
1
SNX12 is involved in early phase cargo transport, receptor recycling, intraluminal vesicle formation, and early-to-late endosome maturation
PMID: 28705836
2
SNX12 localizes to early endosomes via 3-phosphoinositide binding and shares functions with SNX3 in multivesicular endosome biogenesis
PMID: 22719997
3
SNX12 interacts with BACE1, regulates β-amyloid production, and is reduced in Alzheimer's disease patient brains
PMID: 22709416
4
SNX12 has neuroprotective effects against isoflurane-induced neurotoxicity in diabetic rats
PMID: 32062618
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ17
Alzheimer diseaseOpen Targets
0.04Suggestive
Abnormality of refractionOpen Targets
0.02Suggestive
acute liver failureOpen Targets
0.00Suggestive
nail-patella syndromeOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
secondary progressive multiple sclerosisOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VPS35Protein interaction100%VPS29Protein interaction99%SNX6Protein interaction98%VPS26BProtein interaction96%SNX1Protein interaction94%SNX2Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Heart
95%
Ovary
69%
Bone Marrow
65%
Lung
64%
Liver
53%
Gene Interaction Network
Click a node to explore
SNX12VPS35VPS29SNX6VPS26BSNX1SNX2
PROTEIN STRUCTURE
Preparing viewer…
PDB2CSK · NMR
View on RCSB ↗
RankingsWhere SNX12 stands among ~20K protein-coding genes
  • #11,246of 20,598
    Most Researched34
Genes detectedSNX12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Essential and selective role of SNX12 in transport of endocytic and retrograde cargo.
PMID: 28705836
J Cell Sci · 2017
1.00
2
Sorting nexin 12 interacts with BACE1 and regulates BACE1-mediated APP processing.
PMID: 22709416
Mol Neurodegener · 2012
0.90
3
Integrated bioinformatics approaches to investigate alterations in transcriptomic profiles of monkeypox infected human cell line model.
PMID: 37992435
J Infect Public Health · 2024
0.80
4
Expression and purification of the SNX1/SNX6 complex.
PMID: 29908913
Protein Expr Purif · 2018
0.70
5
SNX12 role in endosome membrane transport.
PMID: 22719997
PLoS One · 2012
0.60