SLCO2A1 Gene - Solute Carrier Organic Anion Transporter Family Member 2A1
SLCO2A1: Prostaglandin Transporter and Genetic Disease Associations
Gene Information Card
| Symbol | SLCO2A1 |
|---|---|
| Full Name | Solute Carrier Organic Anion Transporter Family Member 2A1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q22.1-q22.2 |
| NCBI Gene ID | 6578 ncbi.nlm.nih.gov/gene/6578 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q92959 |
| OMIM ID | 601460 |
| HGNC ID | 10956 |
| Aliases | PGT, OATP2A1, SLC21A2, MATR1 |
Description
SLCO2A1 encodes the prostaglandin transporter (PGT), a transmembrane protein belonging to the organic anion transporting polypeptide (OATP) family. PGT mediates the cellular uptake and clearance of prostaglandins, particularly PGE2 and PGF2α, thereby regulating local prostaglandin signaling. Mutations in SLCO2A1 are associated with primary hypertrophic osteoarthropathy (PHO) and chronic enteropathy associated with SLCO2A1 gene (CEAS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Hypertrophic Osteoarthropathy (PHO) | Loss-of-function mutations impair prostaglandin transport, leading to elevated systemic PGE2 levels and abnormal bone/periosteal proliferation. | OMIM #167100; multiple reports in ClinVar and literature. |
| Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS) | Defective PGT function in intestinal epithelium results in impaired prostaglandin clearance, causing chronic inflammation and ulceration. | OMIM #606068; case series in PubMed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 22.5 | High |
| Colon | 18.3 | High |
| Liver | 12.1 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 10.5 | Medium expression |
| A549 (lung carcinoma) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.940+1G>A | Splice donor | Rare | Loss of function; associated with PHO |
| c.1115G>A (p.Arg372His) | Missense | Rare | Impaired prostaglandin transport; CEAS |
| c.1807C>T (p.Arg603*) | Nonsense | Rare | Premature truncation; loss of function; PHO |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (splice, nonsense, frameshift) lead to loss of prostaglandin transport activity, causing PHO and CEAS.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SLCO2A1.
Dominant Negative (DN)
No dominant-negative effects have been described for SLCO2A1 mutations.
View complete mutation data：
Gene Ontology (GO)
| • drug transmembrane transporter activity (GO:0015238) | • sodium-independent organic anion transmembrane transporter activity (GO:0015347) |
| • prostaglandin transport (GO:0015884) | • integral component of membrane (GO:0016021) |
| • transmembrane transport (GO:0055085) |
Pathways
• Prostaglandin transport (Reactome: R-HSA-2162123)
• Organic anion transport (KEGG: hsa02010)
Protein Summary
The SLCO2A1 protein (PGT) is a 643-amino acid transmembrane transporter with 12 predicted membrane-spanning domains. It functions as a sodium-independent organic anion transporter specific for prostaglandins, facilitating their cellular uptake for subsequent metabolism. PGT is highly expressed in the small intestine, colon, liver, and kidney, where it regulates local prostaglandin concentrations. Defects in PGT lead to accumulation of prostaglandins, driving the pathogenesis of PHO and CEAS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO2A1 Knockout HEK293 Cell Line | EDJ-KQ3558 | Human | 6578 | Details Get a Quote |
| SLCO2A1 Knockout HeLa Cell Line | EDJ-KQ25422 | Human | 6578 | Details Get a Quote |
| SLCO2A1 Knockout A-549 Cell Line | EDJ-KQ63003 | Human | 6578 | Details Get a Quote |
| SLCO2A1 Knockout HCT 116 Cell Line | EDJ-KQ71473 | Human | 6578 | Details Get a Quote |
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