HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ENTPD6
ectonucleoside triphosphate diphosphohydrolase 6
Chromosome 20 · 20p11.21
NCBI Gene: 955Ensembl: ENSG00000197586.13HGNC: HGNC:3368UniProt: B4DDM7
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GDP phosphatase activitynucleoside diphosphate phosphatase activityGolgi apparatusCDP phosphatase activitysmoking initiationatrioventricular blockcancerneoplasm
✦AI Summary

ENTPD6 (ectonucleoside triphosphate diphosphohydrolase 6) is a nucleotide-hydrolyzing enzyme that catalyzes the breakdown of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner, with strong preference for nucleoside diphosphates including GDP, IDP, and UDP 123. The membrane-bound form localizes to the Golgi apparatus where it may support glycosylation reactions, while its released extracellular form catalyzes hydrolysis of extracellular nucleotides 123. ENTPD6's biological relevance extends to multiple disease contexts: genome-wide association studies identified rare coding variants in ENTPD6 associated with increased body mass index 4, and elevated ENTPD6 protein levels were identified as a genetic risk factor for visceral obesity with potential therapeutic targeting 5. In reproductive biology, ENTPD6 emerged as a candidate non-obstructive azoospermia pathogenic gene through yeast functional screening, where its guanosine diphosphatase activity proved essential for meiosis and pre-meiotic S phase entry 6. ENTPD6 was also identified as a hub gene in COVID-19-associated male infertility with diagnostic potential 7. Additionally, ENTPD6 expression modulates cisplatin sensitivity in testicular cancer through E-cadherin interactions and represents a potential chemoresistance biomarker 8. The nucleoside-diphosphatase functional gene set containing ENTPD6 shows significant association with pyrimidine antimetabolite responses 9.

Sources cited
1
ENTPD6's biological relevance extends to multiple disease contexts: genome-wide association studies identified rare coding variants in ENTPD6 associated with increased body mass index , and elevated ENTPD6 protein levels were identified as a genetic risk factor for visceral obesity with potential therapeutic targeting .
PMID: 29273807
2
ENTPD6's biological relevance extends to multiple disease contexts: genome-wide association studies identified rare coding variants in ENTPD6 associated with increased body mass index , and elevated ENTPD6 protein levels were identified as a genetic risk factor for visceral obesity with potential therapeutic targeting .
PMID: 39835424
3
In reproductive biology, ENTPD6 emerged as a candidate non-obstructive azoospermia pathogenic gene through yeast functional screening, where its guanosine diphosphatase activity proved essential for meiosis and pre-meiotic S phase entry .
PMID: 26152596
4
ENTPD6 was also identified as a hub gene in COVID-19-associated male infertility with diagnostic potential .
PMID: 37020555
5
Additionally, ENTPD6 expression modulates cisplatin sensitivity in testicular cancer through E-cadherin interactions and represents a potential chemoresistance biomarker .
PMID: 21519793
6
The nucleoside-diphosphatase functional gene set containing ENTPD6 shows significant association with pyrimidine antimetabolite responses .
PMID: 21869733
Disease Associationsⓘ20
smoking initiationOpen Targets
0.38Weak
atrioventricular blockOpen Targets
0.26Weak
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
vitreous body diseaseOpen Targets
0.05Suggestive
retinal degenerationOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.03Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
digestive system neoplasmOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADSS1Protein interaction100%IMPDH2Protein interaction99%UCKL1Protein interaction98%UCK1Protein interaction98%IMPDH1Protein interaction98%UCK2Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Ovary
81%
Liver
70%
Lung
52%
Brain
43%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
ENTPD6ADSS1IMPDH2UCKL1UCK1IMPDH1UCK2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75354
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.58–0.95]
RankingsWhere ENTPD6 stands among ~20K protein-coding genes
  • #10,772of 20,598
    Most Researched36
  • #8,881of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedENTPD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
PMID: 29273807
Nat Genet · 2018
1.00
2
Purinergic signal transduction and metabolic regulation by ENTPD5 and ENTPD6.
PMID: 41685236
Front Endocrinol (Lausanne) · 2026
0.90
3
Genetic insights into visceral obesity with health conditions, from disease susceptibility to therapeutic intervention.
PMID: 39835424
Postgrad Med J · 2025
0.80
4
Exploration of the common genetic landscape of COVID-19 and male infertility.
PMID: 37020555
Front Immunol · 2023
0.70
5
Ectonucleoside triphosphate diphosphohydrolase 6 expression in testis and testicular cancer and its implication in cisplatin resistance.
PMID: 21519793
Oncol Rep · 2011
0.60