Proton-coupled_amino_acid_transporter_2
Protein-coding gene in the species Homo sapiens
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]
See also
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 .
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 .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11):
proton coupled metal ion transporter
(12): (13):
human Na+-sulfate/carboxylate cotransporter
(14): (15):
proton oligopeptide cotransporter
(16):
monocarboxylate transporter
(17): (18): (19): (20):
SLC21–30
(21): (22): (23):
Na+-dependent ascorbic acid transporter
(24): (25): (26):
multifunctional anion exchanger
(27): (28):
Na+-coupled nucleoside transport (SLC28A1
(29):
facilitative nucleoside transporter
(30):
SLC31–40
(31): (32): (33): (34):
type II Na+-phosphate cotransporter
(35):
nucleoside-sugar transporter
SLC35E1
SLC35E2
SLC35E3
SLC35E4
(36):
proton-coupled amino-acid transporter
(37):
sugar-phosphate/phosphate exchanger
(38):
System A & N, sodium-coupled neutral amino-acid transporter
(39): (40):
basolateral iron transporter
SLC41–48
(41): (42): (43):
Na+-independent, system-L like amino-acid transporter
(44): (45):
Putative sugar transporter
(46): (47): (48):
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