ENTPD8

Chr 9

ectonucleoside triphosphate diphosphohydrolase 8

Also known as: E-NTPDase, GLSR2492, NTPDase-8, UNQ2492

NCBI Gene: 377841ENSG00000188833UniProt: Q5MY95

Enables apyrase activity. Involved in ribonucleoside diphosphate catabolic process and ribonucleoside triphosphate catabolic process. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 0.71
OE 0.84 (0.58–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.23Z-score
OE missense 1.04 (0.94–1.14)
321 obs / 309.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.58–1.23)
0≤0.351.4
Missense OE?1.04 (0.94–1.14)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 19 / 22.6Missense obs/exp: 321 / 309.7Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENTPD8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients