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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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STX18
syntaxin 18
Chromosome 4 · 4p16.3-p16.2
NCBI Gene: 53407Ensembl: ENSG00000168818.11HGNC: HGNC:15942UniProt: Q9P2W9
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumpositive regulation of organelle assemblypositive regulation of ER to Golgi vesicle-mediated transportregulation of Golgi organizationneurodegenerative diseasetrauma complicationosteoarthritisHyperhidrosis
✦AI Summary

STX18 (syntaxin 18) is an endoplasmic reticulum-resident t-SNARE protein that functions primarily in vesicular trafficking between the ER and Golgi apparatus 1. It mediates retrograde transport of Golgi-derived vesicles back to the ER and plays a crucial role in collagen II transport during chondrogenesis 1. Beyond classical membrane trafficking, STX18 acts as a negative regulator of lipophagy by binding to ATG14 and inhibiting lipid droplet degradation through autophagy 23. This lipophagy regulation has significant disease implications: lipid accumulation dysregulation is linked to age-related macular degeneration, nonalcoholic fatty liver disease, and neurodegenerative diseases including Alzheimer's and Parkinson's disease 2. STX18 deficiency impairs antero- and retrograde vesicular transport, causing severe osteochondrodysplasia in humans and cartilage/bone developmental defects in zebrafish 1. Clinically, STX18 variants are associated with congenital heart disease, particularly atrial septal defect and ventricular septal defect in multiple populations 45. Additionally, STX18 is overexpressed in breast cancer and suppresses cancer cell growth, suggesting potential tumor-suppressive functions 6. A related lncRNA, STX18-AS1, regulates cardiomyocyte differentiation during cardiac development 7.

Sources cited
1
STX18 binds ATG14 and inhibits lipophagy; dysregulation linked to macular degeneration, fatty liver disease, and neurodegeneration
PMID: 38735055
2
STX18 acts as negative regulator of lipophagy by disrupting ATG14-ATG8 interactions; coronavirus hijacks this axis
PMID: 38477940
3
STX18 is ER-resident t-SNARE involved in collagen II ER-to-Golgi transport; deficiency causes osteochondrodysplasia and impairs vesicular transport
PMID: 37718532
4
STX18-AS1 lncRNA regulates cardiomyocyte differentiation and is associated with atrial septal defect risk
PMID: 36533287
5
STX18-AS1 variants significantly associated with congenital heart disease, particularly atrial septal defect across multiple populations
PMID: 40859829
6
STX18 gene polymorphism rs12644497 associated with congenital heart disease risk in Chinese populations
PMID: 27816473
7
STX18 is overexpressed in breast cancer; suppresses cancer cell growth; involved in ER-Golgi trafficking and cell cycle regulation
PMID: 18722709
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
trauma complicationOpen Targets
0.27Weak
osteoarthritisOpen Targets
0.26Weak
HyperhidrosisOpen Targets
0.25Weak
placenta praeviaOpen Targets
0.23Weak
adolescent idiopathic scoliosisOpen Targets
0.23Weak
heart septal defectOpen Targets
0.22Weak
sialolithiasisOpen Targets
0.21Weak
atrial heart septal defectOpen Targets
0.21Weak
tonsillitisOpen Targets
0.21Weak
alcohol drinkingOpen Targets
0.21Weak
Abnormal cardiac septum morphologyOpen Targets
0.19Weak
congenital heart diseaseOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.17Weak
MODYOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
skull disorderOpen Targets
0.05Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.05Suggestive
hyperproinsulinemiaOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COPB1Protein interaction100%ZW10Protein interaction100%RAB18Protein interaction100%SCFD1Protein interaction100%NBASProtein interaction100%STX1AProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
95%
Brain
80%
Lung
75%
Bone Marrow
73%
Heart
67%
Gene Interaction Network
Click a node to explore
STX18COPB1ZW10RAB18SCFD1NBASSTX1A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2W9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.50–0.91]
RankingsWhere STX18 stands among ~20K protein-coding genes
  • #5,970of 20,598
    Most Researched80
  • #8,351of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedSTX18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ATG14 and STX18: gatekeepers of lipid droplet degradation and the implications for disease modulation.
PMID: 38735055
Autophagy · 2024
1.00
2
Coronavirus hijacks STX18-ATG14 axis-regulated lipophagy to evade an anti-viral effect.
PMID: 38477940
Autophagy · 2024
0.90
3
Data on cardiac lncRNA
PMID: 36533287
Data Brief · 2022
0.80
4
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
PMID: 37718532
J Bone Miner Res · 2023
0.70
5
Identification and validation of a prognostic model based on immune-related genes in ovarian carcinoma.
PMID: 39494284
PeerJ · 2024
0.60