SLC37A3: Solute Carrier Family 37 Member A3
A sugar-phosphate/phosphate exchanger with roles in metabolic and bone disorders
Gene Information Card
| Symbol | SLC37A3 |
|---|---|
| Full Name | Solute Carrier Family 37 Member A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 84255 ncbi.nlm.nih.gov/gene/84255 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q8N2K1 |
| OMIM ID | 612363 |
| HGNC ID | 20620 |
| Aliases | SPX domain-containing protein, MGC12966 |
Description
SLC37A3 encodes a member of the sugar-phosphate/phosphate exchanger family. The protein contains an SPX domain and is involved in phosphate homeostasis and bone metabolism. It is broadly expressed, with highest levels in bone, kidney, and liver. Variants in SLC37A3 have been associated with altered bone mineral density and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bone mineral density variation | Altered phosphate transport affecting bone mineralization | GWAS (PMID: 30598548) |
| Osteoporosis susceptibility | Impaired phosphate homeostasis leading to reduced bone mass | ClinVar association study |
| Metabolic syndrome | Potential role in phosphate and glucose metabolism | OMIM #612363 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.7 | Moderate expression |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs117026326 | Missense | 0.02 (gnomAD) | p.Arg220Cys; potential impact on phosphate transport |
| rs143184522 | Missense | 0.01 (gnomAD) | p.Val158Met; uncertain significance |
| c.1003C>T | Nonsense | <0.001 | p.Arg335*; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant c.1003C>T (p.Arg335*) leads to premature truncation, likely abolishing transporter activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • antiporter activity (GO:0015297) | • inorganic phosphate transmembrane transporter activity (GO:0005315) |
| • organophosphate ester transport (GO:0015748) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Phosphate homeostasis (Reactome: R-HSA-427589)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC37A3 is a 556-amino acid multi-pass membrane protein with an N-terminal SPX domain. It functions as a sugar-phosphate/phosphate antiporter, exporting glucose-6-phosphate in exchange for inorganic phosphate. The protein is localized to the endoplasmic reticulum and plasma membrane, and is critical for maintaining cellular phosphate balance. Structural studies suggest homodimerization is required for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC37A3 Knockout HEK293 Cell Line | EDC09849 | Human | 84255 | Details Get a Quote |
| SLC37A3 Knockout HeLa Cell Line | EDJ-KQ18215 | Human | 84255 | Details Get a Quote |
| SLC37A3 Knockout A-549 Cell Line | EDJ-KQ37033 | Human | 84255 | Details Get a Quote |
| SLC37A3 Knockout HCT 116 Cell Line | EDJ-KQ35822 | Human | 84255 | Details Get a Quote |
