SLC13A4: Solute Carrier Family 13 Member 4
Sodium-dependent sulfate transporter expressed in placenta and kidney
Gene Information Card
| Symbol | SLC13A4 |
|---|---|
| Full Name | solute carrier family 13 member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 26266 ncbi.nlm.nih.gov/gene/26266 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9UKG4 |
| OMIM ID | 608301 |
| HGNC ID | 10924 |
| Aliases | SUT-1, SUT1, NaS2 |
Description
SLC13A4 encodes a sodium-dependent sulfate transporter (NaS2) that mediates the cotransport of sulfate ions with sodium across the plasma membrane. It is highly expressed in placenta and kidney, playing a critical role in sulfate homeostasis during fetal development and renal sulfate reabsorption.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sulfate transporter deficiency (suspected) | Impaired placental sulfate transport may lead to fetal growth restriction | Limited; inferred from functional studies and mouse models (Slc13a4 knockout) (NCBI, OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Kidney | 6.8 | Medium |
| Testis | 4.2 | Medium |
| Liver | 1.1 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| JEG-3 (placental choriocarcinoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HepG2 (liver) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of sulfate transport activity (ClinVar, COSMIC).
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • sulfate transmembrane transporter activity (GO:0008272) | • sulfate transport (GO:0015116) |
| • symporter activity (GO:0015293) | • plasma membrane (GO:0005886) |
| • transmembrane transport (GO:0055085) |
Pathways
• Sulfate transport (Reactome: R-HSA-428542)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC13A4 encodes a 626-amino acid protein (NaS2) with 13 transmembrane domains. It functions as a sodium-sulfate symporter, utilizing the electrochemical gradient of sodium to drive sulfate uptake. The protein is essential for maintaining sulfate levels in fetal circulation and renal handling of sulfate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC13A4 Knockout HEK293 Cell Line | EDJ-KQ8494 | Human | 26266 | Details Get a Quote |
| SLC13A4 Knockout HeLa Cell Line | EDJ-KQ55915 | Human | 26266 | Details Get a Quote |
| SLC13A4 Knockout A-549 Cell Line | EDJ-KQ64405 | Human | 26266 | Details Get a Quote |
| SLC13A4 Knockout HCT 116 Cell Line | EDJ-KQ72857 | Human | 26266 | Details Get a Quote |
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