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Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000690 Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $450.66
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RefSeq Version NM_000690.3, 325910902
Length 2076 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product aldehyde dehydrogenase, mitochondrial isoform 1 precursor
Comment

Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000681.2
CDS 97..1650
Misc Feature(1)85..87
Misc Feature(2)103..1644
Misc Feature(3)187..1629
Misc Feature(4)order(361..366,376..378,385..387,391..393,403..405,
Misc Feature(5)order(640..651,721..723,730..732,820..822,832..837,
Misc Feature(6)order(652..654,949..951,1042..1044,1051..1053)
Misc Feature(7)652..654
Exon (1)1..210
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (2)211..315
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (3)316..456
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (4)457..536
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (5)537..648
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (6)649..777
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (7)778..891
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (8)892..994
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (9)995..1179
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (10)1180..1344
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (11)1345..1502
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (12)1503..1617
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Exon (13)1618..2060
Gene:ALDH2
Gene Synonym:ALDH-E2; ALDHI; ALDM
Translation MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPS TGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLA ALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCG QIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADM DWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGP QVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGP VMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS PFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS
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Position Chain Variation Link
24+dbSNP:
24+a, gdbSNP:186586514
105+c, tdbSNP:6490301
134+c, gdbSNP:1064903
168+c, tdbSNP:200369180
213+dbSNP:
213+g, tdbSNP:200757003
217+a, gdbSNP:141574314
241+g, tdbSNP:143350866
279+c, tdbSNP:146739827
335+dbSNP:
335+c, tdbSNP:140347209
336+a, gdbSNP:142646023
347+a, gdbSNP:199624420
351+c, tdbSNP:151016544
370+a, cdbSNP:201582342
377+a, gdbSNP:201745983
379+c, tdbSNP:140919090
403+c, tdbSNP:150202179
409+c, tdbSNP:13306164
416+g, tdbSNP:141696414
424+c, gdbSNP:147086207
432+c, tdbSNP:199967065
436+c, tdbSNP:190764869
486+dbSNP:
486+a, cdbSNP:138443541
516+c, gdbSNP:141373324
544+dbSNP:
544+a, gdbSNP:141629803
589+a, gdbSNP:144375294
633+c, tdbSNP:201725825
647+c, tdbSNP:191240032
660+a, gdbSNP:58280059
744+c, gdbSNP:144641798
747+c, tdbSNP:138201631
828+dbSNP:
828+a, gdbSNP:139862632
837+c, tdbSNP:111277749
845+c, tdbSNP:111540940
849+a, cdbSNP:146214856
898+dbSNP:
898+c, tdbSNP:201835306
925+a, gdbSNP:139133423
934..935+, adbSNP:71445558
946+c, tdbSNP:150631941
955+g, tdbSNP:145077856
989+a, cdbSNP:148698157
991+a, gdbSNP:142271678
1005+dbSNP:
1005+c, tdbSNP:147887880
1006+a, gdbSNP:201108880
1011+a, gdbSNP:141555810
1106+a, tdbSNP:1062136
1108+c, tdbSNP:202226446
1113+c, tdbSNP:147049749
1136+c, tdbSNP:147698998
1146+c, tdbSNP:112460655
1167+a, gdbSNP:141025702
1203+dbSNP:
1203+a, gdbSNP:201721832
1222+a, gdbSNP:201023185
1224+a, gdbSNP:182362882
1236+c, gdbSNP:150253385
1271+c, tdbSNP:200738174
1287+c, tdbSNP:138931620
1294+c, tdbSNP:149442966
1303+c, tdbSNP:201705553
1350+dbSNP:
1350+c, tdbSNP:199811756
1387+a, gdbSNP:144598865
1398+c, tdbSNP:138505396
1419+a, gdbSNP:141556759
1477+c, gdbSNP:201405479
1560+dbSNP:
1560+a, gdbSNP:190914158
1563+a, gdbSNP:1064933
1570+c, tdbSNP:199724286
1587+c, tdbSNP:201939387
1606+a, gdbSNP:671
1658+dbSNP:
1658+a, gdbSNP:199997803
1662+a, gdbSNP:187335908
1777+a, gdbSNP:113787291
1803+c, tdbSNP:58352818
1928+c, tdbSNP:192282635
1942+c, tdbSNP:77603030
2008+c, tdbSNP:185494407
Gene SymbolALDH2
Gene SynonymALDH-E2; ALDHI; ALDM
Chromosome12
Locus Map12q24.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000690 Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $602.04
ORF Sequence $450.66
NM_001204889 Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $561.15
ORF Sequence $409.77
Title Common variants at 12q24 are associated with drinking behavior in Han Chinese .
Author Yang,X., Lu,X., Wang,L., Chen,S., Li,J., Cao,J., Chen,J., Hao,Y., Li,Y., Zhao,L., Li,H., Liu,D., Wang,L., Lu,F., Shen,C., Yu,L., Wu,X., Zhao,Q., Ji,X., Guo,D., Peng,X., Huang,J. and Gu,D.
Journal Am. J. Clin. Nutr. 97 (3), 545-551 (2013)
Title SET overexpression decreases cell detoxification efficiency: ALDH2 and GSTP1 are downregulated, DDR is impaired and DNA damage accumulates .
Author Almeida,L.O., Goto,R.N., Pestana,C.R., Uyemura,S.A., Gutkind,S., Curti,C. and Leopoldino,A.M.
Journal FEBS J. 279 (24), 4615-4628 (2012)
Title Vascular bioactivation of nitroglycerin by aldehyde dehydrogenase-2: reaction intermediates revealed by crystallography and mass spectrometry .
Author Lang,B.S., Gorren,A.C., Oberdorfer,G., Wenzl,M.V., Furdui,C.M., Poole,L.B., Mayer,B. and Gruber,K.
Journal J. Biol. Chem. 287 (45), 38124-38134 (2012)
Title Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions .
Author Wu,C., Kraft,P., Zhai,K., Chang,J., Wang,Z., Li,Y., Hu,Z., He,Z., Jia,W., Abnet,C.C., Liang,L., Hu,N., Miao,X., Zhou,Y., Liu,Z., Zhan,Q., Liu,Y., Qiao,Y., Zhou,Y., Jin,G., Guo,C., Lu,C., Yang,H., Fu,J., Yu,D., Freedman,N.D., Ding,T., Tan,W., Goldstein,A.M., Wu,T., Shen,H., Ke,Y., Zeng,Y., Chanock,S.J., Taylor,P.R. and Lin,D.
Journal Nat. Genet. 44 (10), 1090-1097 (2012)
Title ADH and ALDH polymorphisms and alcohol dependence in Mexican and Native Americans .
Author Ehlers,C.L., Liang,T. and Gizer,I.R.
Journal Am J Drug Alcohol Abuse 38 (5), 389-394 (2012)
Title Molecular genetics of human aldehyde dehydrogenase .
Author Yoshida,A.
Journal Pharmacogenetics 2 (4), 139-147 (1992)
Title Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH2(2) allele is dominant .
Author Crabb,D.W., Edenberg,H.J., Bosron,W.F. and Li,T.K.
Journal J. Clin. Invest. 83 (1), 314-316 (1989)
Title Genomic structure of the human mitochondrial aldehyde dehydrogenase gene .
Author Hsu,L.C., Bendel,R.E. and Yoshida,A.
Journal Genomics 2 (1), 57-65 (1988)
Title The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12 .
Author Braun,T., Grzeschik,K.H., Bober,E., Singh,S., Agarwal,D.P. and Goedde,H.W.
Journal Hum. Genet. 73 (4), 365-367 (1986)
Title Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2 .
Author Hsu,L.C., Tani,K., Fujiyoshi,T., Kurachi,K. and Yoshida,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 82 (11), 3771-3775 (1985)

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