ENTPD3
Chr 3ectonucleoside triphosphate diphosphohydrolase 3
Also known as: CD39L3, HB6, NTPDase-3
This gene encodes a plasma membrane nucleotidase that hydrolyzes ATP and other nucleotides to regulate extracellular nucleotide levels. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset, characterized by severe seizures and developmental delays. The gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
89 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 69 | 0 | 0 | 69 |
Likely Benign | 0 | 2 | 1 | 2 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 71 | 10 | 2 | 83 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ENTPD3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools