Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence.
We report the cloning and characterization of human PON2, a paraoxonase-related gene-2 that is physically linked with PON1 and PON3 on 7q2l.3. PON2 is ubiquitously expressed and we identified several mRNA forms produced by alternative splicing, or by the use of a second transcription start site. We also describe two polymorphisms in the coding sequences that, in the protein deduced from the longest open reading frame, predict an alanine-to-glycine substitution at residue 147 and a serine-to-cysteine substitution at residue 310.
Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health, Phoenix, AZ 85016, USA.
H
H
Mochizuki
S W
SW
Scherer
T
T
Xi
D C
DC
Nickle
M
M
Majer
J J
JJ
Huizenga
L C
LC
Tsui
M
M
Prochazka
D000595:Amino Acid Sequence; D043303:Aryldialkylphosphatase; D001483:Base Sequence; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003001:Cloning, Molecular; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D004198:Disease Susceptibility; D004950:Esterases / Q000096:biosynthesis / Q000235:genetics*; D005796:Genes; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D011110:Polymorphism, Genetic; D012326:RNA Splicing; D012333:RNA, Messenger / Q000145:classification / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic
D012333:RNA, Messenger; D004950:Esterases; D043303:Aryldialkylphosphatase; C468411:PON2 protein, human; C113656:PON3 protein, human