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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EPDR1
ependymin related 1
Chromosome 7 · 7p14.1
NCBI Gene: 54749Ensembl: ENSG00000086289.13HGNC: HGNC:17572UniProt: Q96J80
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomeextracellular regionphospholipid bindingidentical protein bindingDupuytren ContracturefasciitisPalmar Fibromatosisfibroblastic disorder
✦AI Summary

EPDR1 (ependymin related 1) is a secreted glycoprotein that functions as a batokine regulating metabolic and immune processes across multiple tissues. Structurally, EPDR1 binds anionic lipids and gangliosides at acidic pH and localizes to lysosomes and extracellular regions 1. In pancreatic β-cells, EPDR1 promotes glucose-stimulated insulin secretion by channeling pyruvate through the mitochondrial TCA cycle, with expression upregulated in type 2 diabetes and obesity 2. EPDR1 also functions as an adipose-derived endocrine factor that regulates systemic cardiometabolic homeostasis, influencing blood lipid and glucose levels 3. In cancer biology, EPDR1 promotes tumor progression through distinct mechanisms: in hepatocellular carcinoma, it enhances PD-L1 expression and immune evasion by inhibiting TRIM21-mediated degradation of IκB kinase-β 4; in gastric cancer, it activates STAT3-mediated fatty acid metabolic reprogramming 5; and in colorectal cancer, it promotes proliferation and invasiveness 6. Additionally, EPDR1 drives fibroblast dysfunction in idiopathic pulmonary fibrosis through lysosomal dysfunction and senescence 7. EPDR1 has been identified as a genetic risk locus for primary angle-closure glaucoma 8, indicating broad disease relevance. Overall, EPDR1 represents a pleiotropic regulator with significant therapeutic potential across metabolic, immune, and fibrotic diseases.

Sources cited
1
EPDR1 regulates β-cell mitochondrial metabolism and glucose-stimulated insulin secretion; expression upregulated in type 2 diabetes and obesity
PMID: 36343918
2
EPDR1 promotes PD-L1 expression and tumor immune evasion via TRIM21 inhibition in hepatocellular carcinoma
PMID: 39152265
3
EPDR1 identified as genetic locus associated with primary angle-closure glaucoma
PMID: 28505344
4
EPDR1 functions as adipose-derived endocrine factor regulating systemic blood lipid and glucose levels
PMID: 36276926
5
EPDR1 promotes gastric cancer progression via STAT3-mediated fatty acid metabolic reprogramming through CPT1A
PMID: 41354858
6
EPDR1 is a batokine secreted from brown adipocytes detected in human plasma with thermogenic roles
PMID: 31668873
7
EPDR1 upregulation in colorectal cancer correlates with TNM staging and promotes cell proliferation, migration, and invasiveness
PMID: 32111877
8
EPDR1 drives lysosomal dysfunction and fibroblast senescence in idiopathic pulmonary fibrosis; elevated in BALF and serum correlating with mortality
PMID: 41090747
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.49Moderate
fasciitisOpen Targets
0.45Moderate
Palmar FibromatosisOpen Targets
0.44Moderate
fibroblastic disorderOpen Targets
0.43Moderate
osteoarthritis, hipOpen Targets
0.41Moderate
lumbar disc herniationOpen Targets
0.37Weak
total hip arthroplastyOpen Targets
0.33Weak
skin diseaseOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
lagophthalmosOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
primary angle closure glaucomaOpen Targets
0.27Weak
Plantar FibromatosisOpen Targets
0.24Weak
ulna fractureOpen Targets
0.18Weak
KyphosisOpen Targets
0.18Weak
Lumbar hyperlordosisOpen Targets
0.16Weak
radius fractureOpen Targets
0.16Weak
sensory perception of smellOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.12Weak
liver diseaseOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNED1Shared pathway100%OTOAShared pathway100%MUC4Shared pathway50%RSU1Shared pathway50%TECTAShared pathway50%TIMM10BShared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
97%
Ovary
55%
Lung
48%
Liver
26%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
EPDR1SNED1OTOAMUC4RSU1TECTATIMM10B
PROTEIN STRUCTURE
Preparing viewer…
PDB6JLD · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.90–1.63]
RankingsWhere EPDR1 stands among ~20K protein-coding genes
  • #10,165of 20,598
    Most Researched40
  • #15,777of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedEPDR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human batokine EPDR1 regulates β-cell metabolism and function.
PMID: 36343918
Mol Metab · 2022
1.00
2
EPDR1 promotes PD-L1 expression and tumor immune evasion by inhibiting TRIM21-dependent ubiquitylation of IkappaB kinase-β.
PMID: 39152265
EMBO J · 2024
0.90
3
Genetics of glaucoma.
PMID: 28505344
Hum Mol Genet · 2017
0.80
4
A mechanistic framework for cardiometabolic and coronary artery diseases.
PMID: 36276926
Nat Cardiovasc Res · 2022
0.70
5
EPDR1 promotes gastric cancer progression via STAT3-mediated fatty acid metabolic reprogramming.
PMID: 41354858
Eur J Med Res · 2025
0.60