Fourteen novel single nucleotide polymorphisms in the SLC22A2 gene encoding human organic cation transporter (OCT2).
Thirty-three genetic variations including fourteen novel ones were found in the SLC22A2 gene from 116 Japanese individuals. The novel variations were as follows: 596C>T (MPJ6_OC2003), 602C>T (MPJ6_OC2004), IVS5+20A>G (MPJ6_OC2010), IVS5-84_-83insG (MPJ6_OC2013), IVS6+30T>C (MPJ6_OC2014), IVS6+146G>T (MPJ6_OC2016), IVS6+179G>T (MPJ6_OC2017), IVS6-16delT (MPJ6_OC2018), 1920G>A (MPJ6_OC2022), 2153G>A (MPJ6_OC2026), 2157C>T (MPJ6_OC2028), 2306T>C (MPJ6_OC2031), 2342+5T>C (the last nucleotide number of mRNA+the position in the 3'-flanking region; MPJ6_OC2032) and 2342+127T>C (MPJ6_OC2033). Six variations were located in the exons, four of which were in the 3'-untranslated region (3'-UTR) of exon 11; six were in the introns; and two were in the 3'-flanking region. The frequencies were 0.802 for IVS5-84_-83insG, 0.013 for 602C>T, 0.009 for 596C>T, and 0.004 for the other 11 variations. Among them, 596C>T and 602C>T resulted in amino acid substitutions (Thr199Ile and Thr201Met, respectively).
Fukushima-Uesaka
Hiromi
H
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Maekawa
Keiko
K
Ozawa
Shogo
S
Komamura
Kazuo
K
Ueno
Kazuyuki
K
Shibakawa
Masahiko
M
Kamakura
Shiro
S
Kitakaze
Masafumi
M
Tomoike
Hitonobu
H
Saito
Yoshiro
Y
Sawada
Jun-ichi
J
D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D027701:Organic Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D000075102:Organic Cation Transporter 2; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA
D027701:Organic Cation Transport Proteins; D000075102:Organic Cation Transporter 2; C491013:SLC22A2 protein, human