SLC36A2 gene

solute carrier family 36 member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Sep 2010]

From UniProt:

Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine.

From NCBI Gene:

  • Hyperglycinuria
  • Iminoglycinuria

From UniProt:

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. [MIM:242600]

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. [MIM:138500]

Cytogenetic Location: 5q33.1, which is the long (q) arm of chromosome 5 at position 33.1

Molecular Location: base pairs 151,314,978 to 151,347,590 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q33.1, which is the long (q) arm of chromosome 5 at position 33.1
  • PAT2
  • TRAMD1