Proton-coupled amino acid transporter 2

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

SLC36A2
Identifiers
Aliases	SLC36A2, PAT2, TRAMD1, solute carrier family 36 member 2
External IDs	OMIM: 608331; MGI: 1891430; HomoloGene: 72100; GeneCards: SLC36A2; OMA:SLC36A2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q33.1 Start 151,314,972 bp[1] End 151,347,590 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B1.3 Start 55,049,296 bp[2] End 55,075,903 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in quadriceps femoris muscle skeletal muscle tissue gastrocnemius muscle muscle of thigh human kidney tibial nerve testicle sural nerve gonad renal cortex Top expressed in brown adipose tissue sciatic nerve body of femur subcutaneous adipose tissue mammary gland intercostal muscle white adipose tissue humerus aorta otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function L-alanine transmembrane transporter activity amino acid:proton symporter activity L-proline transmembrane transporter activity glycine transmembrane transporter activity proton transmembrane transporter activity amino acid transmembrane transporter activity Cellular component cytoplasm integral component of membrane plasma membrane extracellular exosome membrane vacuolar membrane Biological process proline transmembrane transport ion transport amino acid transport glycine transport L-alanine transport proline transport proton transmembrane transport transport amino acid transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 153201 246049 Ensembl ENSG00000186335 ENSMUSG00000020264 UniProt Q495M3 Q8BHK3 RefSeq (mRNA) NM_181776 NM_153170 RefSeq (protein) NP_861441 NP_694810 Location (UCSC) Chr 5: 151.31 – 151.35 Mb Chr 11: 55.05 – 55.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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

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

See also

• Proton coupled amino acid transporter

References

1. GRCh38: Ensembl release 89: ENSG00000186335 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020264 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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

• Bermingham JR, Pennington J (2004). "Organization and expression of the SLC36 cluster of amino acid transporter genes". Mamm. Genome. 15 (2): 114–25. doi:10.1007/s00335-003-2319-3. PMID 15058382. S2CID 21418124.
• Trynka G, Zhernakova A, Romanos J, et al. (2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078–83. doi:10.1136/gut.2008.169052. PMID 19240061. S2CID 17111427.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
• Koskinen LL, Einarsdottir E, Korponay-Szabo IR, et al. (2009). "Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations". Tissue Antigens. 74 (5): 408–16. doi:10.1111/j.1399-0039.2009.01359.x. PMID 19845895.
• Rubio-Aliaga I, Boll M, Vogt Weisenhorn DM, et al. (2004). "The proton/amino acid cotransporter PAT2 is expressed in neurons with a different subcellular localization than its paralog PAT1". J. Biol. Chem. 279 (4): 2754–60. doi:10.1074/jbc.M305556200. PMID 14600155.