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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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STARD3NL
STARD3 N-terminal like
Chromosome 7 · 7p14.1
NCBI Gene: 83930Ensembl: ENSG00000010270.14HGNC: HGNC:19169UniProt: C9JKL2
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum membraneprotein bindingcholesterol bindingprotein homodimerization activityDupuytren Contractureosteoporosisosteitis deformansbone disease
✦AI Summary

STARD3NL is a late endosome-anchored tethering protein that mediates inter-organellar communication between late endosomes and the endoplasmic reticulum (ER) 1. The protein functions as part of a molecular tether complex by using a conserved FFAT (two phenylalanines in an acidic tract) motif to interact with ER-anchored VAP proteins (VAPA and VAPB), thereby creating membrane contact sites that enable metabolite exchange and affect endosome dynamics 2. Beyond its canonical role in vesicle tethering, STARD3NL has emerged as a negative regulator of bone metabolism. High STARD3NL expression is associated with low bone mass in osteoporosis patients and osteoporotic mouse models 3. Mechanistically, STARD3NL suppresses osteogenic differentiation by binding to Annexin A2, which inactivates the Wnt/β-catenin signaling pathway 3. Genome-wide association studies identified STARD3NL as a significant BMD locus 4, with evidence suggesting nearby genes like EPDR1 regulate osteoblastogenesis through chr7 contact with STARD3NL-associated variants 5. Additionally, STARD3NL has been identified as a potential sepsis therapeutic target and associates with inflammatory pathways involving IL10 and interferon regulatory factors 67.

Sources cited
1
STARD3NL tethers late endosomes to the ER and is involved in cholesterol transport
PMID: 27068960
2
STARD3NL creates membrane contact sites with ER via FFAT-motif interaction with VAP proteins
PMID: 24105263
3
STARD3NL inhibits osteogenic differentiation by binding Annexin A2 and suppressing Wnt/β-catenin signaling
PMID: 35098646
4
STARD3NL locus identified as genome-wide significant for bone mineral density
PMID: 19801982
5
EPDR1 near STARD3NL locus regulates osteoblastogenesis through chromatin contacts with BMD-associated variants
PMID: 34532616
6
STARD3NL associates with IL10 expression and inflammatory pathways in sepsis susceptibility
PMID: 36534332
7
STARD3NL identified as potential sepsis therapeutic target
PMID: 31190075
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.22Weak
osteoporosisOpen Targets
0.20Weak
osteitis deformansOpen Targets
0.19Weak
bone diseaseOpen Targets
0.19Weak
bone fractureOpen Targets
0.17Weak
alcohol drinkingOpen Targets
0.15Weak
fasciitisOpen Targets
0.14Weak
ulna fractureOpen Targets
0.11Weak
radius fractureOpen Targets
0.10Weak
response to xenobiotic stimulusOpen Targets
0.10Suggestive
Precordial painOpen Targets
0.04Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.03Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
osteomyelitisOpen Targets
0.02Suggestive
fungal infectious diseaseOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STARProtein interaction99%VAPAProtein interaction93%NPC1Protein interaction76%MOSPD2Protein interaction72%STARD3Protein interaction66%NPC2Protein interaction58%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
74%
Lung
71%
Heart
70%
Ovary
58%
Liver
25%
Gene Interaction Network
Click a node to explore
STARD3NLSTARVAPANPC1MOSPD2STARD3NPC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95772
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.46 [0.29–0.74]
RankingsWhere STARD3NL stands among ~20K protein-coding genes
  • #10,094of 20,598
    Most Researched41
  • #5,868of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedSTARD3NL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Touché! STARD3 and STARD3NL tether the ER to endosomes.
PMID: 27068960
Biochem Soc Trans · 2016
1.00
2
STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the ER.
PMID: 24105263
J Cell Sci · 2013
0.90
3
STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/β-catenin pathway via binding to Annexin A2 in osteoporosis.
PMID: 35098646
J Cell Mol Med · 2022
0.80
4
Association Between IL10 Polymorphisms and the Susceptibility to Sepsis: A Meta-Analysis.
PMID: 36534332
Biochem Genet · 2023
0.70
5
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
PMID: 19801982
Nat Genet · 2009
0.60