InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC36A2

Summary

InnateDB Protein

IDBP-54443.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC36A2

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000334223

InnateDB Gene

IDBG-54441 (SLC36A2)

Protein Structure

UniProt Annotation

Function

Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cytoplasm {ECO:0000250}.

Disease Associations

Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry.Iminoglycinuria (IG) [MIM:242600]: 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. {ECO:0000269PubMed:19033659}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families.

Tissue Specificity

Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO:0000269PubMed:15058382, ECO:0000269PubMed:19033659}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005280	hydrogen:amino acid symporter activity
GO:0015180	L-alanine transmembrane transporter activity
GO:0015187	glycine transmembrane transporter activity
GO:0015193	L-proline transmembrane transporter activity

Biological Process

GO:0006811	ion transport
GO:0006865	amino acid transport
GO:0015808	L-alanine transport
GO:0015816	glycine transport
GO:0015824	proline transport
GO:0015992	proton transport
GO:0035524	proline transmembrane transport
GO:0055085	transmembrane transport