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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
Chromosome 10 Β· 10q24.1
NCBI Gene: 953Ensembl: ENSG00000138185.21HGNC: HGNC:3363UniProt: P49961
173PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeprotein bindingplasma membranenucleoside diphosphate phosphatase activityAutosomal recessive spastic paraplegia type 64hereditary spastic paraplegia 64diverticular diseasecomplex hereditary spastic paraplegia
✦AI Summary

ENTPD1 (CD39) is an ectonucleotidase that catalyzes sequential hydrolysis of nucleoside triphosphates and diphosphates to nucleoside monophosphates 1234. By converting proinflammatory ATP and platelet-activating ADP to AMP, ENTPD1 regulates extracellular nucleotide levels, suppresses platelet aggregation, and maintains blood flow 34. In cancer immunology, ENTPD1 serves as a critical marker of tumor-reactive CD8+ T cells. CD39+ CD8+ tumor-infiltrating lymphocytes (TILs) represent chr10 stimulated, antigen-experienced cells with exhausted phenotypes 56. CD103+CD39+ CD8 TILs are enriched for tumor-reactive cells across multiple malignancies and display superior tumor-killing capacity, with higher frequencies correlating with improved survival in head and neck cancer 7. Conversely, CD39-negative stem-like T cells predict better outcomes in adoptive cell therapy, suggesting ENTPD1 expression marks terminally differentiated, less persistent tumor-infiltrating cells 8. ENTPD1 is also identified as a surface marker enabling isolation of tumor antigen-specific CD8+ T cells 9. In glioblastoma, elevated ENTPD1 transcription independently correlates with decreased overall survival 10, likely through immunosuppressive adenosine generation. ENTPD1 is also prioritized at aortic trait loci in vascular smooth muscle cells 11, suggesting broader roles in vascular biology. Mutations in ENTPD1 cause autosomal recessive spastic paraplegia 64.

Sources cited
1
CD103+CD39+ CD8 TILs are enriched for tumor-reactive cells across multiple malignancies and display superior tumor-killing capacity, with higher frequencies correlating with improved survival in head and neck cancer .
PMID: 30006565
2
Conversely, CD39-negative stem-like T cells predict better outcomes in adoptive cell therapy, suggesting ENTPD1 expression marks terminally differentiated, less persistent tumor-infiltrating cells .
PMID: 33303615
3
ENTPD1 is also identified as a surface marker enabling isolation of tumor antigen-specific CD8+ T cells .
PMID: 35165422
4
In glioblastoma, elevated ENTPD1 transcription independently correlates with decreased overall survival , likely through immunosuppressive adenosine generation.
PMID: 37402102
5
ENTPD1 is also prioritized at aortic trait loci in vascular smooth muscle cells , suggesting broader roles in vascular biology.
PMID: 36172868
Disease Associationsβ“˜21
Autosomal recessive spastic paraplegia type 64Open Targets
0.77Strong
hereditary spastic paraplegia 64Open Targets
0.69Moderate
diverticular diseaseOpen Targets
0.39Weak
complex hereditary spastic paraplegiaOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.37Weak
dementiaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.19Weak
neoplasmOpen Targets
0.12Weak
Global developmental delayOpen Targets
0.12Weak
microcephalyOpen Targets
0.12Weak
polymicrogyriaOpen Targets
0.12Weak
COVID-19Open Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
Townes-Brocks syndromeOpen Targets
0.10Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
Spastic paraplegia 64, autosomal recessiveUniProt
Pathogenic Variants17
NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)Pathogenic
Hereditary spastic paraplegia 64|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 287
NM_001776.6(ENTPD1):c.185T>G (p.Leu62Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 62
NM_001776.6(ENTPD1):c.813+2C>GLikely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2024
NM_001776.6(ENTPD1):c.262+1G>TLikely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2023
NM_001776.6(ENTPD1):c.144+1G>ALikely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2023
NM_001776.6(ENTPD1):c.967C>T (p.Gln323Ter)Pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2023β†’ Residue 323
NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)Pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2022β†’ Residue 340
NM_001776.6(ENTPD1):c.17-2A>GLikely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2022
NM_001776.6(ENTPD1):c.574-6_574-3delLikely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2019
NM_001776.6(ENTPD1):c.770_771del (p.Gly257fs)Pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†2019β†’ Residue 257
NM_001776.6(ENTPD1):c.457del (p.Glu153fs)Likely pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†β†’ Residue 153
NM_001776.6(ENTPD1):c.1109T>A (p.Leu370Ter)Pathogenic
Hereditary spastic paraplegia 64
β˜…β˜†β˜†β˜†β†’ Residue 370
NM_001776.6(ENTPD1):c.1018_1021del (p.Tyr340fs)Likely pathogenic
ENTPD1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 340
NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)Pathogenic
Hereditary spastic paraplegia 64
β˜†β˜†β˜†β˜†2024β†’ Residue 392
NM_001776.6(ENTPD1):c.640del (p.Gly216fs)Pathogenic
Hereditary spastic paraplegia 64
β˜†β˜†β˜†β˜†2023β†’ Residue 216
NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)Pathogenic
Hereditary spastic paraplegia 64
β˜†β˜†β˜†β˜†2014β†’ Residue 210
NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)Pathogenic
Hereditary spastic paraplegia 64
β˜†β˜†β˜†β˜†2014β†’ Residue 174
View on ClinVar β†—
Related Genes
ADORA2BProtein interaction100%RRM1Protein interaction100%RRM2Protein interaction100%ADSS1Protein interaction100%IMPDH2Protein interaction99%UCKL1Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
55%
Brain
36%
Ovary
34%
Heart
31%
Liver
24%
Gene Interaction Network
Click a node to explore
ENTPD1ADORA2BRRM1RRM2ADSS1IMPDH2UCKL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P49961
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.74]
RankingsWhere ENTPD1 stands among ~20K protein-coding genes
  • #2,544of 20,598
    Most Researched173 Β· top quartile
  • #2,323of 5,498
    Most Pathogenic Variants17
  • #5,766of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedENTPD1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
An Integrated Multi-omic Single-Cell Atlas of Human B Cell Identity.
PMID: 32668225
Immunity Β· 2020
1.00
2
TOX is a critical regulator of tumour-specific T cell differentiation.
PMID: 31207604
Nature Β· 2019
0.90
3
Bystander CD8
PMID: 29769722
Nature Β· 2018
0.80
4
Defined tumor antigen-specific T cells potentiate personalized TCR-T cell therapy and prediction of immunotherapy response.
PMID: 35165422
Cell Res Β· 2022
0.70
5
Single-cell sequencing on CD8
PMID: 37544663
J Immunother Cancer Β· 2023
0.68