SLC34A3: Sodium-Phosphate Cotransporter 3
Key regulator of renal phosphate reabsorption and bone mineralization
Gene Information Card
| Symbol | SLC34A3 |
|---|---|
| Full Name | solute carrier family 34 member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 142680 ncbi.nlm.nih.gov/gene/142680 |
| Ensembl ID | ENSG00000198569 |
| UniProt ID | Q8N130 |
| OMIM ID | 609826 |
| HGNC ID | 20307 |
| Aliases | NPT2c, NPTIIc, solute carrier family 34 (sodium phosphate), member 3 |
Description
SLC34A3 encodes the sodium-phosphate cotransporter 3 (NPT2c), a member of the type II sodium-phosphate cotransporter family. This protein is primarily expressed in the kidney and mediates renal phosphate reabsorption in the proximal tubule. Mutations in SLC34A3 cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting, hypophosphatemia, hypercalciuria, and bone mineralization defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Loss-of-function mutations impair renal phosphate reabsorption, leading to hypophosphatemia and compensatory hypercalciuria | Multiple families and case reports (OMIM #241530) |
| Nephrolithiasis | Hypercalciuria secondary to phosphate wasting increases risk of calcium stone formation | Observed in HHRH patients |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Small intestine | 3.2 | Medium |
| Lung | 1.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | High expression in transfected cells |
| HK-2 (proximal tubule) | 6.4 | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.228delC (p.Gln77Argfs*86) | Frameshift | Rare | Loss of function |
| c.575C>T (p.Ser192Leu) | Missense | Rare | Loss of function |
| c.1402C>T (p.Arg468*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC34A3 mutations are loss-of-function, reducing or abolishing phosphate transport activity, leading to renal phosphate wasting and HHRH.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphate homeostasis (Reactome: R-HSA-427589)
• Transport of inorganic cations/anions (Reactome: R-HSA-425393)
Protein Summary
SLC34A3 encodes a 599-amino acid transmembrane protein (NPT2c) with 8 predicted transmembrane domains. It functions as a sodium-phosphate cotransporter, utilizing the sodium gradient to drive phosphate uptake across the apical membrane of renal proximal tubule cells. The protein is essential for maintaining phosphate balance and bone mineralization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC34A3 Knockout HEK293 Cell Line | EDJ-KQ3903 | Human | 142680 | Details Get a Quote |
| SLC34A3 Knockout HeLa Cell Line | EDJ-KQ24774 | Human | 142680 | Details Get a Quote |
| SLC34A3 Knockout A-549 Cell Line | EDJ-KQ66962 | Human | 142680 | Details Get a Quote |
| SLC34A3 Knockout HCT 116 Cell Line | EDJ-KQ75363 | Human | 142680 | Details Get a Quote |
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