SLC36A2

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria.

Full Name

solute carrier family 36 (proton/amino acid symporter), member 2

Function

Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-aminobutanoate or methylation of the amino group, as in sarcosine and N,N-dimethylglycine, are also tolerated but decrease transport efficiency. A free carboxyl group is preferred.

Biological Process

Biological Process amino acid transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process amino acid transportTAS:Reactome
Biological Process glycine transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ion transportTAS:Reactome
Biological Process L-alanine transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process proline transmembrane transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process proline transportIEA:Ensembl
Biological Process proton transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane
Endoplasmic reticulum membrane
Recycling endosome membrane

Involvement in disease

Hyperglycinuria (HG):
A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.
Iminoglycinuria (IG):
A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.