Proton-coupled amino acid transporter 2

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)
End	151,347,590 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	55,075,903 bp
RNA expression pattern
	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
	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
	153201
	246049
	ENSG00000186335
	ENSMUSG00000020264
	Q495M3
	Q8BHK3
	NM_181776
	NM_153170
	NP_861441
	NP_694810
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186335 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020264 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^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.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186335 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12809675-5] 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.

[pmid11959859-6] 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.

[pmid19033659-7] 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.

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[2]

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Function

Clinical significance

See also

References

Further reading

Epstein Files Full PDF

Function

Clinical significance

See also

References

Further reading