ENTPD8
Ectonucleoside Triphosphate Diphosphohydrolase 8
Gene Information Card
| Symbol | ENTPD8 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 377841 ncbi.nlm.nih.gov/gene/377841 |
| Ensembl ID | ENSG00000188833 |
| UniProt ID | Q5MY95 |
| OMIM ID | 615012 |
| HGNC ID | 30826 |
| Aliases | NTPDase8, ATPDase, CD39L4 |
Description
ENTPD8 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded enzyme hydrolyzes extracellular nucleoside triphosphates (e.g., ATP, UTP) to nucleoside diphosphates and monophosphates, regulating purinergic signaling. It is a transmembrane protein expressed in various tissues, particularly in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Liver cancer | Altered purinergic signaling via ATP hydrolysis may influence tumor microenvironment and immune response. | Limited evidence from expression studies; no direct causal mutation reported in ClinVar. |
| Renal cell carcinoma | Potential role in extracellular nucleotide metabolism affecting cell proliferation. | Expression data from COSMIC; no validated mechanism. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 7.8 | Embryonic kidney cells |
| A549 | 3.4 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect; not reported in ClinVar |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% (gnomAD) | Predicted benign by SIFT/PolyPhen |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • nucleoside triphosphatase activity (GO:0017111) |
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • ATP catabolic process (GO:0006200) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• Extracellular nucleotide metabolism (KEGG: hsa00230)
Protein Summary
ENTPD8 (NTPDase8) is a 495-amino acid transmembrane protein with an extracellular active site that hydrolyzes ATP and UTP to ADP/AMP and UDP/UMP, respectively. It contains four conserved apyrase domains and is anchored to the plasma membrane via two transmembrane helices. The protein regulates extracellular nucleotide concentrations, modulating purinergic receptor activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD8 Knockout HEK293 Cell Line | EDJ-KQ13293 | Human | 377841 | Details Get a Quote |
| ENTPD8 Knockout HeLa Cell Line | EDJ-KQ59941 | Human | 377841 | Details Get a Quote |
| ENTPD8 Knockout A-549 Cell Line | EDJ-KQ68402 | Human | 377841 | Details Get a Quote |
| ENTPD8 Knockout HCT 116 Cell Line | EDJ-KQ76780 | Human | 377841 | Details Get a Quote |
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