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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ENTPD2
ectonucleoside triphosphate diphosphohydrolase 2
Chromosome 9 Β· 9q34.3
NCBI Gene: 954Ensembl: ENSG00000054179.13HGNC: HGNC:3364UniProt: Q9Y5L3
28PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeribonucleoside triphosphate catabolic processprotein bindingapyrase activitykeratoconusphobic disordergenetic disorderneoplasm
✦AI Summary

ENTPD2 (ectonucleoside triphosphate diphosphohydrolase 2) is an ecto-nucleotidase located on chromosome 9 that catalyzes the hydrolysis of extracellular nucleotide triphosphates 1. As a member of the NTPDase family, ENTPD2 regulates purinergic signaling by modulating extracellular ATP and adenosine levels 2. Unlike the well-characterized CD39/NTPDase1, ENTPD2 is predominantly expressed in tumor cells rather than immune cells and is enriched in tumor-derived exosomes 3. Mechanistically, exosomal ENTPD2 suppresses CD8+ T cell function through dual pathways: reducing extracellular ATP (inhibiting P2X7R-mediated NFATc1 signaling) while promoting ATP-to-adenosine conversion (activating immunosuppressive A2AR signaling) 3. This creates an immunosuppressive tumor microenvironment. Clinically, ENTPD2 is associated with poor prognosis in colon cancer, correlating with advanced TNM stage and increased tumor invasion depth 3. Elevated serum exosomal ENTPD2 inversely correlates with tumor-infiltrating CD8+ T cell expression. ENTPD2 has also emerged as a feature gene for Alzheimer's disease in Mendelian randomization screening 4 and as a master regulator in prostate cancer heterogeneity 5, with associations to cardiorenal complications in type 2 diabetes 6. These findings position ENTPD2 as an important therapeutic target for immunotherapy and metabolic diseases.

Sources cited
1
ENTPD2 is highly expressed in colon cancer cells, localized in exosomes, suppresses CD8+ T cell function through ATP depletion and adenosine promotion, and correlates with poor prognosis and advanced tumor stage
PMID: 38755598
2
ENTPD2 (CD39L1) is located on chromosome 9q34, encodes a 472 amino acid ecto-apyrase protein with homology to CD39 and other ecto-ATPases
PMID: 9271669
3
ENTPD2 is a nucleoside triphosphate diphosphohydrolase that regulates purinergic signaling through extracellular nucleotide metabolism
PMID: 40600918
4
ENTPD2 was identified as a feature gene for Alzheimer's disease through Mendelian randomization screening in a regulated cell death analysis
PMID: 39559889
5
ENTPD2 was identified as a master regulator in prostate cancer nodule heterogeneity
PMID: 34209090
6
ENTPD2 protein expression is significantly associated with progressive chronic kidney disease in the severe insulin-resistant diabetes subtype
PMID: 39059739
7
Ecto-nucleotidases like ENTPD2 degrade extracellular ATP to adenosine, balancing pro-inflammatory P2 signaling with immunosuppressive P1 signaling
PMID: 32159362
Disease Associationsβ“˜20
keratoconusOpen Targets
0.23Weak
phobic disorderOpen Targets
0.14Weak
genetic disorderOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.03Suggestive
endometrial carcinomaOpen Targets
0.03Suggestive
SepsisOpen Targets
0.03Suggestive
Pulmonary hemorrhageOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
Crouzon syndrome-acanthosis nigricans syndromeOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
chronic lymphocytic leukemiaOpen Targets
0.02Suggestive
biliary liver cirrhosisOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
adenomyosisOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_203468.3(ENTPD2):c.1170del (p.Gln391fs)Likely pathogenic
Susceptibility to severe COVID-19
β˜…β˜†β˜†β˜†2024β†’ Residue 391
View on ClinVar β†—
Related Genes
CHMP2AProtein interaction100%NME1Protein interaction99%NME2Protein interaction97%NME1-NME2Protein interaction96%AK9Protein interaction95%NME4Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
12%
Bone Marrow
11%
Liver
9%
Ovary
5%
Lung
2%
Gene Interaction Network
Click a node to explore
ENTPD2CHMP2ANME1NME2NME1-NME2AK9NME4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5L3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.09 [0.86–1.38]
RankingsWhere ENTPD2 stands among ~20K protein-coding genes
  • #12,347of 20,598
    Most Researched28
  • #5,277of 5,498
    Most Pathogenic Variants1
  • #14,350of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedENTPD2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Leveraging Diverse Regulated Cell Death Patterns to Identify Diagnosis Biomarkers for Alzheimer's Disease.
PMID: 39559889
J Prev Alzheimers Dis Β· 2024
1.00
2
Tumor derived exosomal ENTPD2 impair CD8
PMID: 38755598
Cell Commun Signal Β· 2024
0.90
3
NTPDase8 Protects Against Liver Ischemia-Reperfusion Injury in Mice.
PMID: 40600918
FASEB J Β· 2025
0.80
4
Cloning and mapping of a human and mouse gene with homology to ecto-ATPase genes.
PMID: 9271669
Mamm Genome Β· 1997
0.70
5
CD39 Is Expressed on Functional Effector and Tissue-resident Memory CD8+ T Cells.
PMID: 38975728
J Immunol Β· 2024
0.60