ENTPD3
Ectonucleoside Triphosphate Diphosphohydrolase 3
Gene Information Card
| Symbol | ENTPD3 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 956 ncbi.nlm.nih.gov/gene/956 |
| Ensembl ID | ENSG00000163946 |
| UniProt ID | O75356 |
| OMIM ID | 603011 |
| HGNC ID | 3364 |
| Aliases | CD39L3, NTPDase3, HB6 |
Description
ENTPD3 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. This enzyme hydrolyzes extracellular ATP and other nucleoside triphosphates to regulate purinergic signaling. It is a transmembrane protein with apyrase activity, playing roles in neurotransmission, immune modulation, and vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may modulate tumor microenvironment via ATP hydrolysis | COSMIC; literature |
| Neurological disorders | Dysregulation of purinergic signaling in CNS | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| SH-SY5Y | 10.2 | Moderate expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | missense | <0.01% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce enzyme activity.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • ATP binding (GO:0005524) |
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • apyrase activity (GO:0004070) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• Extracellular ATP metabolism
Protein Summary
ENTPD3 (NTPDase3) is a 529-amino-acid transmembrane protein with an extracellular active site that hydrolyzes ATP and UTP to ADP/UDP and phosphate. It is anchored to the plasma membrane via two transmembrane domains and is involved in modulating purinergic receptor activation. Expression is highest in brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD3 Knockout HEK293 Cell Line | EDJ-KQ4222 | Human | 956 | Details Get a Quote |
| ENTPD3 Knockout HeLa Cell Line | EDJ-KQ52840 | Human | 956 | Details Get a Quote |
| ENTPD3 Knockout A-549 Cell Line | EDJ-KQ61308 | Human | 956 | Details Get a Quote |
| ENTPD3 Knockout HCT 116 Cell Line | EDJ-KQ69802 | Human | 956 | Details Get a Quote |
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