SLC46A2: Solute Carrier Family 46 Member 2
A proton-coupled folate transporter involved in immune response and folate homeostasis.
Gene Information Card
| Symbol | SLC46A2 |
|---|---|
| Full Name | solute carrier family 46 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 195814 ncbi.nlm.nih.gov/gene/195814 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 611672 |
| HGNC ID | HGNC:25462 |
| Aliases | G21, PCFT2, HCP1 |
Description
SLC46A2 (solute carrier family 46 member 2) encodes a proton-coupled folate transporter (PCFT2) that mediates the cellular uptake of folates and heme. It is expressed in various tissues, particularly in the intestine and kidney, and plays a role in folate homeostasis and immune function. Mutations in this gene are associated with hereditary folate malabsorption and immune deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary folate malabsorption | Impaired intestinal folate uptake due to SLC46A2 loss-of-function mutations | ClinVar, OMIM |
| Immunodeficiency with folate malabsorption | Defective folate transport in immune cells leading to impaired lymphocyte function | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Kidney | 8.3 | Medium |
| Liver | 5.1 | Medium |
| Spleen | 3.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 15.0 | High expression |
| HEK293 (embryonic kidney) | 9.5 | Moderate expression |
| HepG2 (liver) | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.194C>T (p.Pro65Leu) | Missense | <0.01% | Reduced folate transport activity |
| c.358G>A (p.Gly120Arg) | Missense | <0.01% | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | No protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish folate transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • folic acid transmembrane transporter activity (GO:0008517) | • heme transmembrane transporter activity (GO:0015232) |
| • folic acid transport (GO:0015884) | • heme transport (GO:0015886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• Vitamin B9 (folate) transport (KEGG: hsa04976)
Protein Summary
SLC46A2 encodes a 459-amino acid transmembrane protein with 12 predicted transmembrane domains. It functions as a proton-coupled folate transporter (PCFT2) that imports folates and heme into cells. The protein is localized to the apical membrane of intestinal epithelial cells and is essential for dietary folate absorption. It also contributes to folate uptake in hematopoietic and immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC46A2 Knockout HEK293 Cell Line | EDJ-KQ15345 | Human | 57864 | Details Get a Quote |
| SLC46A2 Knockout HeLa Cell Line | EDJ-KQ56929 | Human | 57864 | Details Get a Quote |
| SLC46A2 Knockout A-549 Cell Line | EDJ-KQ65434 | Human | 57864 | Details Get a Quote |
| SLC46A2 Knockout HCT 116 Cell Line | EDJ-KQ73872 | Human | 57864 | Details Get a Quote |
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