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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ENPP3
ectonucleotide pyrophosphatase/phosphodiesterase 3
Chromosome 6 · 6q23.2
NCBI Gene: 5169Ensembl: ENSG00000154269.15HGNC: HGNC:3358UniProt: F8W6H5
44PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
inorganic diphosphate transportphosphodiesterase I activitycalcium ion bindingzinc ion bindingtype 2 diabetes mellitusadolescent idiopathic scoliosisdiabetes mellitusneurodegenerative disease
✦AI Summary

ENPP3 is an extracellular ectonucleotide pyrophosphatase/phosphodiesterase that catalyzes the hydrolysis of nucleotide triphosphates (ATP, GTP, UTP, CTP) and plays a critical role in innate immune regulation 1. A major function involves hydrolyzing the immunostimulatory second messenger 2',3'-cGAMP into GMP, AMP, and inorganic phosphate, thereby suppressing STING-dependent type I interferon production 1. ENPP3 is hypoxia-inducible in clear-cell renal cell carcinoma (ccRCC) via HIF-1α and is significantly upregulated in RCC tissues, where it dampens anti-tumor immunity and predicts poor prognosis 2. In ccRCC, ENPP3 inhibition elevates extracellular cGAMP, expanding M1 macrophages and cytotoxic T cells while reducing regulatory T cells in a STING- and interferon-dependent manner 2. Beyond immune regulation, ENPP3 exhibits broader catalytic activity, hydrolyzing nucleotide sugars like UDP-GlcNAc and potentially modulating glycosylation 3. In endometriosis, promoter hypomethylation increases ENPP3 expression, activating the AKT/mTOR pathway and promoting ectopic endometrial cell invasion and migration 4. These findings position ENPP3 as a therapeutic target for cancer immunotherapy and a biomarker for endometrial receptivity and disease pathogenesis.

Sources cited
1
ENPP3 hydrolyzes 2',3'-cGAMP to GMP, AMP, and inorganic phosphate; suppresses STING-dependent type I interferon; represents an innate immune checkpoint
PMID: 38749434
2
ENPP3 is hypoxia-inducible in ccRCC, predicts poor prognosis, its blockade elevates cGAMP and expands anti-tumor immune cells via STING-IFNAR1 signaling
PMID: 41715305
3
ENPP3 is progesterone-regulated, N-glycosylated, secreted into uterine fluid, and involved in endometrial receptivity
PMID: 27665743
4
ENPP3 promoter hypomethylation in ovarian endometriosis increases expression and activates AKT/mTOR pathway to promote cell invasion and migration
PMID: 38149831
5
ENPP3 is overexpressed in RCC tissues; bispecific antibody targeting ENPP3 and SIRPα enhances macrophage-mediated anti-tumor immunity
PMID: 40349459
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.40Weak
adolescent idiopathic scoliosisOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.18Weak
metabolic syndromeOpen Targets
0.18Weak
renal cell carcinomaOpen Targets
0.10Weak
chronic myelogenous leukemiaOpen Targets
0.08Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
colon carcinomaOpen Targets
0.06Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.06Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.05Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.05Suggestive
gamma chain deficiencyOpen Targets
0.05Suggestive
activated PI3K-delta syndromeOpen Targets
0.05Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.05Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.05Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
AGS-16C3FPhase II
Tubulin disrupting agent
renal cell carcinoma
Related Genes
NME1-NME2Protein interaction96%PYGBProtein interaction96%PYGLProtein interaction96%AK9Protein interaction95%GUCY1A2Protein interaction93%GUCY1A1Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
56%
Ovary
36%
Lung
16%
Heart
11%
Brain
7%
Gene Interaction Network
Click a node to explore
ENPP3NME1-NME2PYGBPYGLAK9GUCY1A2GUCY1A1
PROTEIN STRUCTURE
Preparing viewer…
PDB6C02 · 1.94 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.75–1.21]
RankingsWhere ENPP3 stands among ~20K protein-coding genes
  • #9,588of 20,598
    Most Researched44
  • #12,735of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedENPP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IgE allergy diagnostics and other relevant tests in allergy, a World Allergy Organization position paper.
PMID: 32128023
World Allergy Organ J · 2020
1.00
2
Modulation of Macropinocytosis-Mediated Internalization Decreases Ocular Toxicity of Antibody-Drug Conjugates.
PMID: 29382707
Cancer Res · 2018
0.90
3
Identification of the extracellular membrane protein ENPP3 as a major cGAMP hydrolase and innate immune checkpoint.
PMID: 38749434
Cell Rep · 2024
0.80
4
Dual targeting of ENPP3 and SIRPα with a bispecific antibody enhances macrophage-mediated immunity in renal cell carcinoma.
PMID: 40349459
Biochem Biophys Res Commun · 2025
0.70
5
ENPP3 drives ccRCC progression by cGAMP hydrolysis and STING-IFN suppression.
PMID: 41715305
Cancer Biol Ther · 2026
0.60