SLC29A2 Gene - Equilibrative Nucleoside Transporter 2 (ENT2)
Solute Carrier Family 29 Member 2: Nucleoside Transport and Clinical Relevance
Gene Information Card
| Symbol | SLC29A2 |
|---|---|
| Full Name | Solute Carrier Family 29 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 3177 ncbi.nlm.nih.gov/gene/3177 |
| Ensembl ID | ENSG00000174652 |
| UniProt ID | Q14542 |
| OMIM ID | 602110 |
| HGNC ID | 11000 |
| Aliases | ENT2, DER12 |
Description
SLC29A2 (Solute Carrier Family 29 Member 2) encodes the equilibrative nucleoside transporter 2 (ENT2), a transmembrane protein that mediates the bidirectional transport of nucleosides and nucleoside analog drugs across cellular membranes. ENT2 is widely expressed and plays a role in nucleotide synthesis, adenosine signaling, and chemotherapeutic drug uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemochromatosis (modifier) | Altered nucleoside transport may influence iron metabolism; SLC29A2 variants have been associated with iron overload severity. | PMID: 15654328 |
| Gout | ENT2 transports urate; polymorphisms in SLC29A2 may affect urate excretion and gout risk. | PMID: 23263486 |
| Cancer (drug response) | ENT2 mediates uptake of nucleoside analogs (e.g., gemcitabine, 5-fluorouracil); expression levels correlate with chemosensitivity. | PMID: 15078995 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 11.2 | Medium |
| Heart | 9.8 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.3 | Low |
| Brain | 5.1 | Low |
| Lung | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HepG2 | 10.1 | Hepatocellular carcinoma |
| MCF7 | 8.3 | Breast cancer |
| A549 | 6.7 | Lung adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003G>A (p.Gly335Arg) | Missense | <0.01% | Reduced nucleoside transport activity |
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Altered substrate specificity |
| c.1475_1476del (p.Glu492Valfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Glu492Valfs*2) lead to truncated, non-functional ENT2 protein.
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)
| • GO:0005337 - nucleoside transmembrane transporter activity | • GO:0015858 - nucleoside transport |
| • GO:0016021 - integral component of membrane | • GO:0055085 - transmembrane transport |
Pathways
• Nucleoside transport (R-HSA-425397)
• Transport of nucleosides and free purine and pyrimidine bases (R-HSA-83936)
Protein Summary
ENT2 (UniProt Q14542) is a 456-amino acid integral membrane protein with 11 transmembrane helices. It functions as a sodium-independent, equilibrative nucleoside transporter with broad substrate specificity for purine and pyrimidine nucleosides, as well as nucleoside analog drugs. ENT2 is inhibited by dipyridamole and dilazep. It is localized to the plasma membrane and intracellular vesicles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC29A2 Knockout HEK293 Cell Line | EDJ-KQ4094 | Human | 3177 | Details Get a Quote |
| SLC29A2 Knockout A-549 Cell Line | EDJ-KQ27693 | Human | 3177 | Details Get a Quote |
| SLC29A2 Knockout HCT 116 Cell Line | EDC08397 | Human | 3177 | Details Get a Quote |
| SLC29A2 Knockout HeLa Cell Line | EDJ-KQ27696 | Human | 3177 | Details Get a Quote |
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