SLC36A2: Proton-coupled amino acid transporter 2
Solute carrier family 36 member 2 – iminoglycinuria and hyperglycinuria associated gene
Gene Information Card
| Symbol | SLC36A2 |
|---|---|
| Full Name | Solute carrier family 36 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 153201 ncbi.nlm.nih.gov/gene/153201 |
| Ensembl ID | ENSG00000186350 |
| UniProt ID | Q495M3 |
| OMIM ID | 608331 |
| HGNC ID | 19676 |
| Aliases | PAT2, tramdorin, PRO0478 |
Description
SLC36A2 encodes the proton-coupled amino acid transporter 2 (PAT2), a member of the solute carrier family 36. This transporter mediates electrogenic symport of small amino acids such as glycine, proline, and hydroxyproline with protons across the plasma membrane. It is highly expressed in kidney proximal tubules and is essential for renal reabsorption of imino acids and glycine. Loss-of-function mutations cause iminoglycinuria and hyperglycinuria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iminoglycinuria | Defective renal reabsorption of glycine, proline, and hydroxyproline due to loss of PAT2 function | OMIM #242600; multiple homozygous and compound heterozygous mutations identified |
| Hyperglycinuria | Isolated elevated urinary glycine without iminoaciduria, associated with specific SLC36A2 variants | OMIM #138500; cosegregation studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | High |
| Small intestine | 6.8 | Medium |
| Brain | 2.1 | Low |
| Liver | 1.5 | Low |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Endogenous expression confirmed by RNA-seq |
| Caco-2 | 6.2 | Intestinal epithelial model |
| HK-2 | 11.0 | Proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Gly40Glu) | Missense | <0.01% (gnomAD) | Loss of transport activity; associated with iminoglycinuria |
| c.260C>T (p.Thr87Ile) | Missense | <0.01% | Reduced glycine uptake; hyperglycinuria |
| c.415G>A (p.Gly139Arg) | Missense | <0.01% | Complete loss of function; iminoglycinuria |
| c.1222C>T (p.Arg408*) | Nonsense | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported missense and nonsense mutations reduce or abolish proton-coupled amino acid transport, leading to iminoglycinuria or hyperglycinuria.
Gain of Function (GOF)
No gain-of-function mutations have been described for SLC36A2.
Dominant Negative (DN)
No dominant-negative effects reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REAC:R-HSA-352230 – Amino acid transport across the plasma membrane
• REAC:R-HSA-425393 – Transport of inorganic cations/anions and amino acids/oligopeptides
• REAC:R-HSA-5619115 – Defective SLC36A2 causes iminoglycinuria
Protein Summary
PAT2 (SLC36A2) is a 483-amino acid transmembrane protein with 11 predicted helices. It functions as a proton-coupled symporter for small neutral amino acids (glycine, proline, hydroxyproline). The protein localizes to the apical membrane of renal proximal tubule cells and intestinal epithelia. Structural modeling indicates a conserved substrate-binding pocket critical for proton coupling. Loss of PAT2 activity impairs renal reabsorption, leading to urinary loss of imino acids and glycine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC36A2 Knockout HEK293 Cell Line | EDJ-KQ11495 | Human | 153201 | Details Get a Quote |
| SLC36A2 Knockout HeLa Cell Line | EDJ-KQ58721 | Human | 153201 | Details Get a Quote |
| SLC36A2 Knockout A-549 Cell Line | EDJ-KQ67203 | Human | 153201 | Details Get a Quote |
| SLC36A2 Knockout HCT 116 Cell Line | EDJ-KQ75608 | Human | 153201 | Details Get a Quote |
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