SLC29A4: Equilibrative Nucleoside Transporter 4 (ENT4)
Solute Carrier Family 29 Member 4 – A Polyspecific Organic Cation Transporter with Roles in Neurotransmission and Cardiac Function
Gene Information Card
| Symbol | SLC29A4 |
|---|---|
| Full Name | Solute Carrier Family 29 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 222962 ncbi.nlm.nih.gov/gene/222962 |
| Ensembl ID | ENSG00000164611 |
| UniProt ID | Q7RTT9 |
| OMIM ID | 609149 |
| HGNC ID | 23097 |
| Aliases | ENT4, PMAT |
Description
SLC29A4 encodes the equilibrative nucleoside transporter 4 (ENT4), also known as the plasma membrane monoamine transporter (PMAT). It is a polyspecific organic cation transporter that mediates the bidirectional transport of nucleosides and monoamine neurotransmitters (e.g., dopamine, serotonin). The protein is widely expressed, with highest levels in brain, heart, and kidney, and plays a role in neurotransmitter clearance and cardiac adenosine regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major depressive disorder | Altered monoamine transport may affect synaptic neurotransmitter levels | PMID: 20031500 |
| Parkinson disease | Dysregulation of dopamine transport via PMAT | PMID: 23542741 |
| Cardiovascular disease | ENT4-mediated adenosine transport influences cardiac response to ischemia | PMID: 17690142 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Kidney | 18.7 | Medium |
| Liver | 3.2 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Neuronal model |
| HEK293 (embryonic kidney) | 22.4 | High expression in recombinant systems |
| H9c2 (cardiomyoblast) | 14.6 | Cardiac model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Reduced transport activity in vitro |
| c.1246G>A (p.Val416Met) | Missense | <0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg335Trp reduces monoamine uptake by >50% in cellular assays.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleoside transport (R-HSA-425393)
• Monoamine transport (R-HSA-442660)
• Adenosine signaling (R-HSA-418594)
Protein Summary
The SLC29A4 protein (ENT4/PMAT) is a 530-amino acid polyspecific transporter with 11 predicted transmembrane domains. It functions as an equilibrative nucleoside transporter and a pH-dependent organic cation transporter, capable of transporting monoamines (dopamine, serotonin, norepinephrine) and nucleosides (adenosine, uridine). It is insensitive to classical ENT inhibitors (e.g., nitrobenzylthioinosine) and is considered a low-affinity, high-capacity transporter. PMAT is implicated in neurotransmitter clearance in the brain and adenosine handling in the heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC29A4 Knockout HEK293 Cell Line | EDJ-KQ9136 | Human | 222962 | Details Get a Quote |
| SLC29A4 Knockout A-549 Cell Line | EDJ-KQ35676 | Human | 222962 | Details Get a Quote |
| SLC29A4 Knockout HCT 116 Cell Line | EDJ-KQ35677 | Human | 222962 | Details Get a Quote |
| SLC29A4 Knockout HeLa Cell Line | EDJ-KQ59204 | Human | 222962 | Details Get a Quote |
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