Proton-coupled amino acid transporter 2

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SLC36A2
Identifiers
AliasesSLC36A2, PAT2, TRAMD1, solute carrier family 36 member 2
External IDsMGI: 1891430 HomoloGene: 72100 GeneCards: SLC36A2
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SLC36A2
Genomic location for SLC36A2
Band5q33.1Start151,314,972 bp[1]
End151,347,590 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_181776

NM_153170

RefSeq (protein)

NP_861441

NP_694810

Location (UCSC)Chr 5: 151.31 – 151.35 MbChr 11: 55.16 – 55.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Proton-coupled amino acid transporter 2 is a protein which in humans is encoded by the SLC36A2 gene.[5]

Function[edit]

SLC36A2 transports small amino acids (glycine, alanine, and proline) and also the D-enantiomers and select amino acid derivatives, such as gamma-aminobutyric acid.[5][6]

Clinical significance[edit]

Mutations in the SLC36A2 gene are associated with Iminoglycinuria.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186335 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020264 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b Boll M, Foltz M, Rubio-Aliaga I, Daniel H (July 2003). "A cluster of proton/amino acid transporter genes in the human and mouse genomes". Genomics. 82 (1): 47–56. doi:10.1016/S0888-7543(03)00099-5. PMID 12809675.
  6. ^ Boll M, Foltz M, Rubio-Aliaga I, Kottra G, Daniel H (June 2002). "Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters". J. Biol. Chem. 277 (25): 22966–73. doi:10.1074/jbc.M200374200. PMID 11959859.
  7. ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (December 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.

Further reading[edit]