ENTPD2 (Ectonucleoside Triphosphate Diphosphohydrolase 2)
A key enzyme in purinergic signaling, regulating extracellular nucleotide levels and implicated in cancer and immune modulation.
Gene Information Card
| Symbol | ENTPD2 |
|---|---|
| Full Name | Ectonucleoside triphosphate diphosphohydrolase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 954 ncbi.nlm.nih.gov/gene/954 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9Y5L3 |
| OMIM ID | 602026 |
| HGNC ID | 3364 |
| Aliases | CD39L1, NTPDase-2, dJ738P15.3 |
Description
ENTPD2 encodes ectonucleoside triphosphate diphosphohydrolase 2, a member of the CD39 family of enzymes. This protein hydrolyzes extracellular nucleoside triphosphates (e.g., ATP, UTP) to their corresponding diphosphates, regulating purinergic signaling. It is a plasma membrane protein with an extracellular catalytic domain. ENTPD2 is involved in various physiological processes, including inflammation, platelet aggregation, and smooth muscle contraction. It is also implicated in cancer progression and immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ENTPD2 expression is upregulated in several cancers, promoting tumor growth and metastasis by modulating extracellular ATP levels and immune responses. | COSMIC, PubMed |
| Glioma | High ENTPD2 expression correlates with poor prognosis and increased malignancy in gliomas, potentially through purinergic signaling pathways. | PubMed |
| Inflammatory bowel disease (IBD) | Altered ENTPD2 expression may contribute to intestinal inflammation by affecting extracellular nucleotide metabolism. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 4.1 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 10.1 | Moderate expression |
| MCF7 | 7.3 | Low expression |
| HepG2 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | 0.01% | Potential impact on enzyme activity |
| c.200C>T (p.Pro67Leu) | Missense | 0.005% | Unknown functional effect |
| c.350A>G (p.Asn117Ser) | Missense | 0.02% | May affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ENTPD2 are rare and may lead to reduced enzyme activity, potentially affecting purinergic signaling. However, no specific disease has been directly linked to such mutations.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression of ENTPD2 in cancer is more common than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ENTPD2.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • nucleoside triphosphatase activity |
| • plasma membrane | • extracellular region |
| • ATP binding | • metal ion binding |
Pathways
• Purinergic signaling
• Extracellular nucleotide metabolism
• Immune regulation
Protein Summary
ENTPD2 is a 495-amino acid protein with a molecular weight of ~55 kDa. It is a type II transmembrane protein with a short cytoplasmic N-terminus, a single transmembrane domain, and a large extracellular C-terminal domain containing the catalytic site. The enzyme requires calcium or magnesium ions for activity and is inhibited by azide. It preferentially hydrolyzes ATP and UTP over ADP and UDP. ENTPD2 is expressed on the cell surface and also exists in a soluble form. It plays a role in regulating extracellular nucleotide concentrations, thereby modulating P2 receptor signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD2 Knockout HEK293 Cell Line | EDJ-KQ4221 | Human | 954 | Details Get a Quote |
| ENTPD2 Knockout HCT 116 Cell Line | EDJ-KQ26687 | Human | 954 | Details Get a Quote |
| ENTPD2 Knockout HeLa Cell Line | EDJ-KQ52839 | Human | 954 | Details Get a Quote |
| ENTPD2 Knockout A-549 Cell Line | EDJ-KQ61307 | Human | 954 | Details Get a Quote |
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