SLC20A2: Solute Carrier Family 20 Member 2
Phosphate Transporter and Idiopathic Basal Ganglia Calcification Gene
Gene Information Card
| Symbol | SLC20A2 |
|---|---|
| Full Name | Solute Carrier Family 20 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 6575 ncbi.nlm.nih.gov/gene/6575 |
| Ensembl ID | ENSG00000168575 |
| UniProt ID | Q08357 |
| OMIM ID | 158378 |
| HGNC ID | 10947 |
| Aliases | PiT-2, GLVR2, D8S502E, SLC20A2 |
Description
SLC20A2 (Solute Carrier Family 20 Member 2) encodes the sodium-dependent phosphate transporter 2 (PiT-2), which mediates cellular phosphate uptake. It is ubiquitously expressed, with high levels in the brain, and plays a key role in phosphate homeostasis. Loss-of-function mutations in SLC20A2 are the primary cause of idiopathic basal ganglia calcification (IBGC1, also known as Fahr disease), an autosomal dominant disorder characterized by bilateral calcification in the basal ganglia and other brain regions, leading to neurological and psychiatric symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Basal Ganglia Calcification 1 (IBGC1) | Loss-of-function mutations reduce phosphate transport, leading to extracellular phosphate accumulation and calcium-phosphate deposition in brain vasculature | Multiple studies; OMIM #213600 |
| Basal Ganglia Calcification, Idiopathic, 1 | Heterozygous mutations in SLC20A2 cause autosomal dominant IBGC1 | ClinVar; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.3 | High |
| Kidney | 18.1 | High |
| Liver | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Heart | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 12.8 | Common expression system |
| HepG2 (hepatocellular carcinoma) | 11.4 | Liver model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1483C>T (p.Arg495*) | Nonsense | Rare | Loss of function; truncated protein |
| c.509G>A (p.Trp170*) | Nonsense | Rare | Loss of function; premature stop |
| c.1802C>T (p.Ser601Leu) | Missense | Rare | Impaired phosphate transport |
Mutation functional classification
Loss of Function (LOF)
Most SLC20A2 mutations are loss-of-function, reducing phosphate uptake and leading to extracellular phosphate accumulation and calcification.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type PiT-2 function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005315 - inorganic phosphate transmembrane transporter activity | • GO:0016021 - integral component of membrane |
| • GO:0006817 - phosphate ion transport | • GO:0055085 - transmembrane transport |
Pathways
• Phosphate homeostasis (Reactome: R-HSA-427589)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
PiT-2 (SLC20A2) is a 652-amino acid multi-pass transmembrane protein that functions as a sodium-phosphate symporter. It is ubiquitously expressed, with highest levels in brain and kidney. The protein contains 12 transmembrane domains and is essential for cellular phosphate uptake. Mutations impairing its transport activity lead to extracellular phosphate accumulation, promoting calcium-phosphate crystal deposition in brain tissue, characteristic of IBGC1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC20A2 Knockout HEK293 Cell Line | EDJ-KQ3539 | Human | 6575 | Details Get a Quote |
| SLC20A2 Knockout A-549 Cell Line | EDJ-KQ25385 | Human | 6575 | Details Get a Quote |
| SLC20A2 Knockout HCT 116 Cell Line | EDC07722 | Human | 6575 | Details Get a Quote |
| SLC20A2 Knockout HeLa Cell Line | EDJ-KQ25387 | Human | 6575 | Details Get a Quote |
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