Heavy data lifting in progress
Resolving transcript coordinates...
Heavy data lifting in progress
Resolving transcript coordinates...
ectonucleoside triphosphate diphosphohydrolase 2
Also known as: CD39L1, NTPDase-2
The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
233 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 81 | 0 | 81 |
Likely Pathogenic | 1 | 0 | 5 | 0 | 6 |
VUS | 0 | 91 | 8 | 0 | 99 |
Likely Benign | 0 | 4 | 1 | 2 | 7 |
Benign | 0 | 2 | 0 | 2 | 4 |
Conflicting | — | 2 | |||
| Total | 1 | 97 | 95 | 4 | 199 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →ENTPD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
1 OMIM entry
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools