ENTPD6
Ectonucleoside Triphosphate Diphosphohydrolase 6 (CD39L2)
Gene Information Card
| Symbol | ENTPD6 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 955 ncbi.nlm.nih.gov/gene/955 |
| Ensembl ID | ENSG00000101445 |
| UniProt ID | O75354 |
| OMIM ID | 603161 |
| HGNC ID | 3368 |
| Aliases | CD39L2, NTPDase6, dJ738P15.3 |
Description
ENTPD6 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The enzyme hydrolyzes extracellular nucleoside triphosphates (e.g., ATP, UTP) to nucleoside diphosphates, regulating purinergic signaling. It is a glycosylated, membrane-bound protein with a conserved apyrase domain. ENTPD6 is involved in immune modulation, platelet aggregation, and vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered ENTPD6 expression may modulate extracellular ATP levels, affecting tumor microenvironment and immune evasion. | COSMIC; PubMed studies |
| Thrombotic disorders | Dysregulation of nucleotide hydrolysis can influence platelet activation and thrombus formation. | UniProt; literature review |
| Inflammatory diseases | Reduced ENTPD6 activity may exacerbate inflammation via increased extracellular ATP. | NCBI Gene; inferred from family function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Heart | 7.1 | Medium |
| Kidney | 9.3 | Medium |
| Liver | 5.8 | Low |
| Lung | 10.4 | Medium |
| Skeletal muscle | 4.2 | Low |
| Spleen | 12.1 | High |
| Testis | 15.6 | High |
| Thyroid | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 7.3 | Medium expression |
| MCF7 | 6.1 | Low expression |
| HepG2 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
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)
| • apyrase activity (GO:0004070) | • hydrolase activity (GO:0016787) |
| • ATP binding (GO:0005524) | • plasma membrane (GO:0005886) |
| • extracellular region (GO:0005576) | • signal transduction (GO:0007165) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• Extracellular ATP signaling (KEGG: hsa04020)
Protein Summary
ENTPD6 (CD39L2) is a 428-amino acid transmembrane protein with an extracellular apyrase domain that hydrolyzes ATP and UTP to ADP and UDP, respectively. It is widely expressed, with highest levels in testis and spleen. The protein plays a role in modulating purinergic receptor activation, impacting immune responses, platelet function, and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD6 Knockout HEK293 Cell Line | EDJ-KQ4227 | Human | 955 | Details Get a Quote |
| ENTPD6 Knockout A-549 Cell Line | EDJ-KQ26690 | Human | 955 | Details Get a Quote |
| ENTPD6 Knockout HCT 116 Cell Line | EDJ-KQ26691 | Human | 955 | Details Get a Quote |
| ENTPD6 Knockout HeLa Cell Line | EDJ-KQ26692 | Human | 955 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
