ALDH2 (aldehyde dehydrogenase 2 family member) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ALDH2 (aldehyde dehydrogenase 2 family member) Homo sapiens
Analyze
Symbol: ALDH2
Name: aldehyde dehydrogenase 2 family member
RGD ID: 69220
HGNC Page HGNC
Description: Exhibits aldehyde dehydrogenase (NAD+) activity. Predicted to be involved in carbohydrate metabolic process and ethanol oxidation. Localizes to extracellular exosome. Implicated in several diseases, including alcohol use disorder; artery disease (multiple); diabetes mellitus (multiple); diabetic neuropathy; and liver disease (multiple). Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetaldehyde dehydrogenase 2; aldehyde dehydrogenase 2; aldehyde dehydrogenase 2 family (mitochondrial); aldehyde dehydrogenase, mitochondrial; ALDH class 2; ALDH-E2; ALDHI; ALDM; liver mitochondrial ALDH; MGC1806; nucleus-encoded mitochondrial aldehyde dehydrogenase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12111,766,887 - 111,817,532 (+)EnsemblGRCh38hg38GRCh38
GRCh3812111,766,933 - 111,817,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712112,204,737 - 112,255,336 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612110,688,729 - 110,732,167 (+)NCBINCBI36hg18NCBI36
Build 3412110,667,065 - 110,710,502NCBI
Celera12111,829,810 - 111,873,247 (+)NCBI
Cytogenetic Map12q24.12NCBI
HuRef12109,218,289 - 109,261,129 (+)NCBIHuRef
CHM1_112112,172,628 - 112,215,725 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,5-dihydroxybenzaldehyde  (EXP)
2-ethoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic GMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,4-dihydroxyphenylacetaldehyde  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-hydroxybenzaldehyde  (EXP)
3-hydroxypyruvic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(diethylamino)benzaldehyde  (EXP)
4-dimethylaminocinnamaldehyde  (EXP)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxynon-2-enal  (EXP,ISO)
4-nitrophenyl acetate  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetophenone  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinal  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
atrazine  (EXP)
benomyl  (ISO)
benzaldehyde  (EXP)
benzaldehydes  (EXP)
benzbromarone  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzyl isothiocyanate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butanal  (EXP)
butane-2,3-diol  (EXP)
cadmium atom  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
celecoxib  (ISO)
chloral hydrate  (EXP,ISO)
chloroacetaldehyde  (EXP)
chloroethene  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyanamide  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
D-glyceraldehyde  (ISO)
daidzein 7-O-beta-D-glucoside  (EXP)
decanal  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinous acid  (EXP)
disulfiram  (EXP,ISO)
diuron  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enilconazole  (EXP)
EPTC  (ISO)
ethanol  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP,ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
glyceraldehyde  (ISO)
glycine betaine  (ISO)
glycolaldehyde  (ISO)
glyoxal  (ISO)
GW 4064  (ISO)
hemin  (ISO)
hexanal  (EXP)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
isoprenaline  (ISO)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
magnesium atom  (EXP,ISO)
malonaldehyde  (EXP)
mancozeb  (ISO)
maneb  (ISO)
menadione  (EXP)
menthofuran  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methylglyoxal  (ISO)
mitoxantrone  (EXP)
molinate  (EXP)
N-(1,3-benzodioxol-5-ylmethyl)-2,6-dichlorobenzamide  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosomorpholine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (ISO)
NAD zwitterion  (EXP,ISO)
NAD(+)  (EXP,ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
naphthalene  (ISO)
nitric oxide  (ISO)
nitroglycerin  (EXP,ISO)
norlaudanosoline  (ISO)
omeprazole  (ISO)
Oxadiazon  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentaerythritol tetranitrate  (ISO)
pentrinitrol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenacyl bromide  (EXP)
phenobarbital  (ISO)
phlorizin  (ISO)
phosphorothioate oligonucleotide  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
propiconazole  (ISO)
prunetin  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
taraxerone  (ISO)
tert-butyl ethyl ether  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
ubiquinones  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway  (EXP)
3-hydroxyisobutyric aciduria pathway  (EXP)
3-methylcrotonyl CoA carboxylase 1 deficiency pathway  (EXP)
3-methylglutaconic aciduria type 1 pathway  (EXP)
3-methylglutaconic aciduria type 3 pathway  (EXP)
arginine and proline metabolic pathway  (IEA)
ascorbate and aldarate metabolic pathway  (IEA)
beta-alanine metabolic pathway  (EXP,IEA)
carnosinemia pathway  (EXP)
dihydropyrimidine dehydrogenase deficiency pathway  (EXP)
dimethylglycine dehydrogenase deficiency pathway  (EXP)
disulfiram pharmacodynamics pathway  (EXP)
GABA aminotransferase deficiency pathway  (EXP)
gluconeogenesis pathway  (IEA)
glycolysis pathway  (IEA)
glycolysis/gluconeogenesis pathway  (IEA)
histidine metabolic pathway  (EXP,IEA)
histidinemia pathway  (EXP)
isobutyryl-CoA dehydrogenase deficiency pathway  (EXP)
isovaleric acidemia pathway  (EXP)
Leigh disease pathway  (EXP)
lysine degradation pathway  (IEA)
maple syrup urine disease pathway  (EXP)
methylmalonate semialdehyde dehydrogenase deficiency pathway  (EXP)
methylmalonic acidemia pathway  (EXP)
nonketotic hyperglycinemia pathway  (EXP)
pentose and glucuronate interconversion pathway  (IEA)
primary hyperoxaluria type 2 pathway  (EXP)
propanoate metabolic pathway  (IEA)
propionic acidemia pathway  (EXP)
pyruvate decarboxylase deficiency pathway  (EXP)
pyruvate dehydrogenase E1 deficiency pathway  (EXP)
pyruvate kinase deficiency of red cells pathway  (EXP)
pyruvate metabolic pathway  (EXP,IEA)
sarcosinemia pathway  (EXP)
tryptophan metabolic pathway  (EXP,IEA)
valine, leucine and isoleucine degradation pathway  (EXP,IEA)

References

References - curated
1. Abe H, etal., J Gastroenterol Hepatol. 2015 Sep;30(9):1376-83. doi: 10.1111/jgh.12948.
2. Amamoto K, etal., Hypertens Res. 2002 Nov;25(6):857-64.
3. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
4. Chang B, etal., Am J Med Sci. 2018 Jul;356(1):10-14. doi: 10.1016/j.amjms.2018.03.012. Epub 2018 Mar 20.
5. Chao YC, etal., Am J Gastroenterol. 2000 Oct;95(10):2958-64. doi: 10.1111/j.1572-0241.2000.02328.x.
6. Chaudhry KK, etal., Alcohol Clin Exp Res. 2015 Aug;39(8):1465-75. doi: 10.1111/acer.12777. Epub 2015 Jul 14.
7. Chen CH, etal., Science. 2008 Sep 12;321(5895):1493-5. doi: 10.1126/science.1158554.
8. Chen HW, etal., Shock. 2007 Dec;28(6):710-6. doi: 10.1097/shk.0b013e318050c8c2.
9. Chen L, etal., Redox Biol. 2019 Jun;24:101205. doi: 10.1016/j.redox.2019.101205. Epub 2019 Apr 19.
10. Ding J, etal., Asian Pac J Cancer Prev. 2008 Jan-Mar;9(1):31-5.
11. Enomoto N, etal., Gastroenterol Jpn. 1991 Aug;26(4):440-7.
12. Gao Y, etal., Gut. 2019 Jul;68(7):1311-1322. doi: 10.1136/gutjnl-2018-316221. Epub 2018 Aug 18.
13. Garver E, etal., J Exp Med. 2001 Sep 3;194(5):571-80. doi: 10.1084/jem.194.5.571.
14. GOA_HUMAN data from the GO Consortium
15. Guo R, etal., J Hepatol. 2015 Mar;62(3):647-56. doi: 10.1016/j.jhep.2014.10.009. Epub 2014 Oct 20.
16. Hao L, etal., Redox Biol. 2018 Apr;14:626-636. doi: 10.1016/j.redox.2017.11.005. Epub 2017 Nov 11.
17. Hou G, etal., Hepatology. 2017 May;65(5):1628-1644. doi: 10.1002/hep.29006. Epub 2017 Mar 31.
18. Ishikawa N, etal., Nippon Koshu Eisei Zasshi. 2005 Nov;52(11):979-86.
19. Jin S, etal., Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):9088-93. doi: 10.1073/pnas.1510757112. Epub 2015 Jul 6.
20. Kanda J, etal., Cancer Sci. 2008 Dec 4.
21. Kato S, etal., Scand J Gastroenterol. 2003 Aug;38(8):886-93.
22. KEGG
23. Kwon HJ, etal., Hepatology. 2014 Jul;60(1):146-57. doi: 10.1002/hep.27036. Epub 2014 May 28.
24. Lang XE, etal., PLoS One. 2013;8(2):e52469. doi: 10.1371/journal.pone.0052469. Epub 2013 Feb 28.
25. Li M, etal., J Immunol Res. 2018 Dec 24;2018:9807139. doi: 10.1155/2018/9807139. eCollection 2018.
26. Li ZH, etal., Zhejiang Da Xue Xue Bao Yi Xue Ban. 2010 Nov;39(6):566-71.
27. Liu J, etal., Cancer Epidemiol Biomarkers Prev. 2016 Apr;25(4):693-9. doi: 10.1158/1055-9965.EPI-15-0961. Epub 2016 Jan 31.
28. Luo G, etal., Mol Nutr Food Res. 2017 Nov;61(11). doi: 10.1002/mnfr.201700087. Epub 2017 Aug 15.
29. Miyasaka K, etal., Pancreas. 2005 Mar;30(2):95-8.
30. Moon KH, etal., Hepatology. 2006 Nov;44(5):1218-30.
31. Murata C, etal., Diabetes Res Clin Pract. 2004 Dec;66 Suppl 1:S145-7.
32. Murata C, etal., Metabolism. 2003 Sep;52(9):1096-101. doi: 10.1016/s0026-0495(03)00183-5.
33. Nagasawa H, etal., Eur J Neurol. 2007 Apr;14(4):428-34.
34. Nagata N, etal., Alcohol Clin Exp Res. 2002 Aug;26(8 Suppl):11S-14S. doi: 10.1097/01.ALC.0000027923.82434.7F.
35. Ohta S, etal., Ann N Y Acad Sci. 2004 Apr;1011:36-44.
36. OMIM Disease Annotation Pipeline
37. Oniki K, etal., Nutr Diabetes. 2016 May 23;6:e210. doi: 10.1038/nutd.2016.17.
38. Panisello-Roselló A, etal., Int J Mol Sci. 2018 Aug 22;19(9). pii: ijms19092479. doi: 10.3390/ijms19092479.
39. Peng GS, etal., Pharmacogenetics 1999 Aug;9(4):463-76.
40. Pipeline to import KEGG annotations from KEGG into RGD
41. Pipeline to import SMPDB annotations from SMPDB into RGD
42. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
43. RGD automated import pipeline for gene-chemical interactions
44. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
45. Shibuya A and Yoshida A, Am J Hum Genet. 1988 Nov;43(5):744-8.
46. Stachowicz A, etal., J Am Heart Assoc. 2014 Nov 12;3(6):e001329. doi: 10.1161/JAHA.114.001329.
47. Suzuki Y, etal., Alcohol Clin Exp Res. 2004 Aug;28(8 Suppl Proceedings):111S-116S.
48. Suzuki Y, etal., Diabetes Res Clin Pract. 2003 May;60(2):139-41.
49. Takagi S, etal., Hypertens Res. 2001 Jul;24(4):365-70.
50. Takagi S, etal., Hypertens Res. 2002 Sep;25(5):677-81.
51. Takeshita T, etal., Cancer Lett. 2000 Feb 28;149(1-2):69-76. doi: 10.1016/s0304-3835(99)00343-2.
52. Tanaka F, etal., Alcohol Clin Exp Res. 1997 Jun;21(4):596-601.
53. Tatematsu Y, etal., Biol Pharm Bull. 2018;41(3):319-325. doi: 10.1248/bpb.b17-00527.
54. Wang J, etal., Mol Med. 2011 Mar-Apr;17(3-4):172-9. doi: 10.2119/molmed.2010.00114. Epub 2010 Oct 15.
55. Wong LL, etal., Hum Exp Toxicol. 2011 Sep;30(9):1369-81. doi: 10.1177/0960327110391388. Epub 2010 Dec 7.
56. Ye X, etal., Cancer Manag Res. 2018 May 4;10:1037-1050. doi: 10.2147/CMAR.S162105. eCollection 2018.
57. Yokoyama A, etal., Alcohol Clin Exp Res. 2013 Aug;37(8):1391-401. doi: 10.1111/acer.12108. Epub 2013 Mar 29.
58. Yokoyama A, etal., J Gastroenterol. 2018 May;53(5):660-669. doi: 10.1007/s00535-017-1402-6. Epub 2017 Oct 23.
59. Yuan Q, etal., PLoS One. 2011;6(10):e25811. doi: 10.1371/journal.pone.0025811. Epub 2011 Oct 12.
60. Zhang T, etal., Free Radic Res. 2018 Jun;52(6):629-638. doi: 10.1080/10715762.2018.1459042. Epub 2018 Apr 13.
Additional References at PubMed
PMID:18196   PMID:1306115   PMID:2562960   PMID:2838413   PMID:2987944   PMID:3017845   PMID:3562250   PMID:3582651   PMID:3610592   PMID:3653404   PMID:4015823   PMID:4015840  
PMID:4065146   PMID:6582480   PMID:7593603   PMID:8125298   PMID:8290656   PMID:8561277   PMID:8889548   PMID:8903321   PMID:9195888   PMID:9309300   PMID:9765594   PMID:10631996  
PMID:11115843   PMID:11117576   PMID:11210104   PMID:11238183   PMID:11375898   PMID:11410735   PMID:11410744   PMID:11468345   PMID:11520401   PMID:11584144   PMID:11600186   PMID:11692094  
PMID:11696658   PMID:11744614   PMID:11748356   PMID:11767261   PMID:11798074   PMID:11925062   PMID:11966948   PMID:12010862   PMID:12033531   PMID:12080432   PMID:12082496   PMID:12089173  
PMID:12119207   PMID:12164325   PMID:12168074   PMID:12170102   PMID:12173598   PMID:12189549   PMID:12198369   PMID:12211622   PMID:12213289   PMID:12223435   PMID:12351924   PMID:12376487  
PMID:12387818   PMID:12419833   PMID:12477932   PMID:12492137   PMID:12505800   PMID:12517056   PMID:12519453   PMID:12545748   PMID:12554615   PMID:12563175   PMID:12693930   PMID:12705718  
PMID:12706324   PMID:12718576   PMID:12718671   PMID:12739102   PMID:12759156   PMID:12759747   PMID:12766630   PMID:12777946   PMID:12795606   PMID:12798968   PMID:12806963   PMID:12824748  
PMID:12884000   PMID:12915514   PMID:12915519   PMID:14506399   PMID:14568296   PMID:14597338   PMID:14634838   PMID:14636437   PMID:14652286   PMID:14691372   PMID:14693654   PMID:14742656  
PMID:14768474   PMID:15008789   PMID:15084894   PMID:15122947   PMID:15123334   PMID:15167446   PMID:15182962   PMID:15220553   PMID:15242332   PMID:15279067   PMID:15318097   PMID:15318112  
PMID:15327835   PMID:15377279   PMID:15489334   PMID:15511718   PMID:15519646   PMID:15542751   PMID:15569633   PMID:15654505   PMID:15679538   PMID:15703303   PMID:15734972   PMID:15780035  
PMID:15840430   PMID:15842823   PMID:15863807   PMID:15902904   PMID:15957669   PMID:15957670   PMID:15983043   PMID:15991278   PMID:16006997   PMID:16046871   PMID:16078602   PMID:16082583  
PMID:16103445   PMID:16108833   PMID:16125912   PMID:16126235   PMID:16127737   PMID:16135443   PMID:16163053   PMID:16169070   PMID:16187278   PMID:16235983   PMID:16250071   PMID:16309369  
PMID:16324524   PMID:16332725   PMID:16351505   PMID:16365683   PMID:16385179   PMID:16404797   PMID:16440063   PMID:16440362   PMID:16499490   PMID:16520888   PMID:16565959   PMID:16600530  
PMID:16608143   PMID:16624836   PMID:16639733   PMID:16679343   PMID:16679777   PMID:16685648   PMID:16702384   PMID:16734278   PMID:16758956   PMID:16759795   PMID:16782756   PMID:16788276  
PMID:16792555   PMID:16822169   PMID:16847426   PMID:16958672   PMID:17033202   PMID:17036331   PMID:17040107   PMID:17071628   PMID:17134659   PMID:17138329   PMID:17196743   PMID:17207821  
PMID:17285601   PMID:17292341   PMID:17384900   PMID:17454860   PMID:17459359   PMID:17471563   PMID:17489985   PMID:17517051   PMID:17543846   PMID:17559142   PMID:17631643   PMID:17632320  
PMID:17659824   PMID:17785925   PMID:17850643   PMID:17854793   PMID:17885622   PMID:17948892   PMID:17952709   PMID:17963305   PMID:17984618   PMID:18033686   PMID:18056758   PMID:18078815  
PMID:18201725   PMID:18215653   PMID:18216179   PMID:18254707   PMID:18258609   PMID:18272654   PMID:18299763   PMID:18302046   PMID:18317873   PMID:18318597   PMID:18322963   PMID:18331377  
PMID:18336671   PMID:18429959   PMID:18450747   PMID:18510611   PMID:18516948   PMID:18540919   PMID:18616675   PMID:18621017   PMID:18665932   PMID:18676680   PMID:18715275   PMID:18724972  
PMID:18763293   PMID:18772068   PMID:18773092   PMID:18776700   PMID:18782342   PMID:18786921   PMID:18787502   PMID:18798003   PMID:18974607   PMID:18996923   PMID:19056867   PMID:19064571  
PMID:19096130   PMID:19115622   PMID:19124505   PMID:19144977   PMID:19164089   PMID:19170196   PMID:19182438   PMID:19185835   PMID:19230487   PMID:19250143   PMID:19251454   PMID:19261511  
PMID:19262484   PMID:19286920   PMID:19298323   PMID:19298328   PMID:19302089   PMID:19332462   PMID:19336370   PMID:19339270   PMID:19343046   PMID:19393179   PMID:19403456   PMID:19449376  
PMID:19452585   PMID:19456322   PMID:19469618   PMID:19486361   PMID:19506075   PMID:19584771   PMID:19618839   PMID:19625176   PMID:19637400   PMID:19641380   PMID:19655364   PMID:19667493  
PMID:19692168   PMID:19698717   PMID:19706845   PMID:19751749   PMID:19769429   PMID:19799139   PMID:19819294   PMID:19826048   PMID:19860798   PMID:19861527   PMID:19874574   PMID:19876063  
PMID:19906643   PMID:19911129   PMID:19913121   PMID:19914339   PMID:19948975   PMID:20005475   PMID:20010786   PMID:20025435   PMID:20042735   PMID:20062057   PMID:20077761   PMID:20093384  
PMID:20100738   PMID:20101753   PMID:20139978   PMID:20180013   PMID:20180859   PMID:20186120   PMID:20205700   PMID:20364586   PMID:20381070   PMID:20403997   PMID:20417517   PMID:20437850  
PMID:20467232   PMID:20477767   PMID:20477771   PMID:20488846   PMID:20518787   PMID:20521872   PMID:20541757   PMID:20562859   PMID:20577142   PMID:20590827   PMID:20598484   PMID:20628086  
PMID:20632450   PMID:20652463   PMID:20685249   PMID:20700531   PMID:20731752   PMID:20806441   PMID:20833657   PMID:20877124   PMID:20877624   PMID:21039630   PMID:21070510   PMID:21085683  
PMID:21114754   PMID:21133627   PMID:21145461   PMID:21157980   PMID:21252222   PMID:21270382   PMID:21309949   PMID:21321583   PMID:21355870   PMID:21372407   PMID:21437268   PMID:21476199  
PMID:21507992   PMID:21515512   PMID:21536753   PMID:21572416   PMID:21576033   PMID:21601984   PMID:21664374   PMID:21672255   PMID:21723677   PMID:21820149   PMID:21832049   PMID:21848961  
PMID:21861333   PMID:21873635   PMID:21917409   PMID:21946912   PMID:21958412   PMID:21971053   PMID:21988832   PMID:22004425   PMID:22102315   PMID:22144473   PMID:22155604   PMID:22155639  
PMID:22171074   PMID:22180476   PMID:22231434   PMID:22279680   PMID:22286173   PMID:22287615   PMID:22292652   PMID:22302076   PMID:22455355   PMID:22507973   PMID:22508505   PMID:22551939  
PMID:22563891   PMID:22564712   PMID:22591209   PMID:22703580   PMID:22708399   PMID:22797727   PMID:22839215   PMID:22870576   PMID:22879089   PMID:22909898   PMID:22930414   PMID:22931071  
PMID:22954124   PMID:22960999   PMID:22988236   PMID:23041239   PMID:23106910   PMID:23111423   PMID:23149980   PMID:23238616   PMID:23247008   PMID:23266708   PMID:23295226   PMID:23296215  
PMID:23303836   PMID:23323620   PMID:23354068   PMID:23364009   PMID:23364394   PMID:23376485   PMID:23447675   PMID:23454351   PMID:23455379   PMID:23525499   PMID:23609397   PMID:23615284  
PMID:23667679   PMID:23685282   PMID:23685324   PMID:23697560   PMID:23835015   PMID:23909789   PMID:23969552   PMID:23986996   PMID:24028448   PMID:24037726   PMID:24058561   PMID:24067347  
PMID:24201835   PMID:24262192   PMID:24277619   PMID:24282520   PMID:24292747   PMID:24333098   PMID:24334570   PMID:24382882   PMID:24558407   PMID:24588059   PMID:24633362   PMID:24661165  
PMID:24666523   PMID:24690209   PMID:24719202   PMID:24734329   PMID:24749767   PMID:24861553   PMID:24916648   PMID:25047496   PMID:25084704   PMID:25163552   PMID:25209032   PMID:25249183  
PMID:25253673   PMID:25263579   PMID:25263942   PMID:25292432   PMID:25313998   PMID:25354396   PMID:25365528   PMID:25372623   PMID:25403981   PMID:25408144   PMID:25411394   PMID:25419637  
PMID:25427912   PMID:25430946   PMID:25448285   PMID:25524923   PMID:25541509   PMID:25543168   PMID:25573590   PMID:25636114   PMID:25680115   PMID:25759460   PMID:25831092   PMID:25921289  
PMID:25978981   PMID:25994345   PMID:26000808   PMID:26033520   PMID:26091241   PMID:26130061   PMID:26142243   PMID:26153479   PMID:26174136   PMID:26185357   PMID:26186194   PMID:26212265  
PMID:26284938   PMID:26318866   PMID:26339786   PMID:26344197   PMID:26364564   PMID:26465331   PMID:26491656   PMID:26542604   PMID:26687910   PMID:26691593   PMID:26782498   PMID:26804037  
PMID:26804999   PMID:26825972   PMID:26832618   PMID:26842557   PMID:26848030   PMID:26848198   PMID:26855420   PMID:26917006   PMID:26941382   PMID:26972231   PMID:26992901   PMID:26995653  
PMID:27038040   PMID:27087413   PMID:27153870   PMID:27181629   PMID:27189280   PMID:27191745   PMID:27224914   PMID:27270535   PMID:27323160   PMID:27377053   PMID:27453043   PMID:27453488  
PMID:27486170   PMID:27575312   PMID:27612022   PMID:27633387   PMID:27650066   PMID:27679490   PMID:27706553   PMID:27706693   PMID:27706775   PMID:27714678   PMID:27808372   PMID:27835996  
PMID:27904031   PMID:27927211   PMID:27991683   PMID:28002588   PMID:28036260   PMID:28049208   PMID:28052001   PMID:28056995   PMID:28208752   PMID:28212515   PMID:28212632   PMID:28248093  
PMID:28253921   PMID:28342890   PMID:28348376   PMID:28371326   PMID:28380382   PMID:28389253   PMID:28422823   PMID:28430929   PMID:28431562   PMID:28464297   PMID:28471244   PMID:28472173  
PMID:28514442   PMID:28566767   PMID:28613083   PMID:28643803   PMID:28778129   PMID:28841898   PMID:28847041   PMID:28894224   PMID:28939800   PMID:29026383   PMID:29128638   PMID:29166882  
PMID:29176272   PMID:29189260   PMID:29205834   PMID:29206831   PMID:29247577   PMID:29278292   PMID:29333563   PMID:29401634   PMID:29408531   PMID:29425204   PMID:29426835   PMID:29441687  
PMID:29460428   PMID:29568061   PMID:29579152   PMID:29582627   PMID:29600553   PMID:29616362   PMID:29623947   PMID:29715546   PMID:29742731   PMID:29877297   PMID:29885625   PMID:29953918  
PMID:29960587   PMID:29968299   PMID:30021884   PMID:30077765   PMID:30166580   PMID:30196744   PMID:30202044   PMID:30221737   PMID:30261890   PMID:30273545   PMID:30275114   PMID:30334266  
PMID:30350259   PMID:30368588   PMID:30399428   PMID:30538807   PMID:30629674   PMID:30639619   PMID:30810208   PMID:30833792   PMID:30834931   PMID:30842089   PMID:30921184   PMID:30945288  
PMID:30948266   PMID:30977906   PMID:31056398   PMID:31066241   PMID:31071657   PMID:31091453   PMID:31104322   PMID:31138432   PMID:31180492   PMID:31204364   PMID:31250045   PMID:31279903  
PMID:31345174   PMID:31361523   PMID:31368101   PMID:31368108   PMID:31402483   PMID:31510791   PMID:31536960   PMID:31580537   PMID:31591379   PMID:31617661   PMID:31829281   PMID:31831791  
PMID:31833292   PMID:32006143   PMID:32009064   PMID:32028540   PMID:32084087   PMID:32107439   PMID:32141245   PMID:32160861   PMID:32300124   PMID:32350201   PMID:32355181   PMID:32356421  
PMID:32403082   PMID:32662535   PMID:32843694   PMID:32877691   PMID:32932651   PMID:33004991   PMID:33060820   PMID:33093602   PMID:33147438   PMID:33253299   PMID:33276716   PMID:33333711  


Genomics

Comparative Map Data
ALDH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12111,766,887 - 111,817,532 (+)EnsemblGRCh38hg38GRCh38
GRCh3812111,766,933 - 111,817,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712112,204,737 - 112,255,336 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612110,688,729 - 110,732,167 (+)NCBINCBI36hg18NCBI36
Build 3412110,667,065 - 110,710,502NCBI
Celera12111,829,810 - 111,873,247 (+)NCBI
Cytogenetic Map12q24.12NCBI
HuRef12109,218,289 - 109,261,129 (+)NCBIHuRef
CHM1_112112,172,628 - 112,215,725 (+)NCBICHM1_1
Aldh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395121,704,090 - 121,731,887 (-)NCBIGRCm39mm39
GRCm39 Ensembl5121,704,090 - 121,731,887 (-)Ensembl
GRCm385121,566,027 - 121,593,824 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5121,566,027 - 121,593,824 (-)EnsemblGRCm38mm10GRCm38
MGSCv375122,017,696 - 122,043,833 (-)NCBIGRCm37mm9NCBIm37
MGSCv365121,828,319 - 121,854,203 (-)NCBImm8
Celera5118,657,638 - 118,683,765 (-)NCBICelera
Cytogenetic Map5FNCBI
Aldh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21234,949,549 - 34,982,527 (+)NCBI
Rnor_6.0 Ensembl1240,466,495 - 40,498,752 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01240,466,418 - 40,498,813 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01242,334,057 - 42,366,049 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41236,081,778 - 36,116,445 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11235,945,165 - 35,979,833 (+)NCBI
Celera1236,614,188 - 36,647,218 (+)NCBICelera
Cytogenetic Map12q16NCBI
Aldh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554828,352,569 - 8,383,097 (+)NCBIChiLan1.0ChiLan1.0
ALDH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112112,734,243 - 112,776,471 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v012109,343,020 - 109,385,060 (+)NCBIMhudiblu_PPA_v0panPan3
ALDH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1269,319,109 - 9,361,021 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha269,481,407 - 9,518,893 (+)NCBI
ROS_Cfam_1.0269,578,697 - 9,616,338 (+)NCBI
UMICH_Zoey_3.1269,534,133 - 9,571,615 (+)NCBI
UNSW_CanFamBas_1.0269,596,947 - 9,634,535 (+)NCBI
UU_Cfam_GSD_1.0269,550,188 - 9,587,685 (+)NCBI
Aldh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118155,091,721 - 155,116,690 (-)NCBI
SpeTri2.0NW_0049365584,362,693 - 4,387,705 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1439,896,565 - 39,933,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11439,902,317 - 39,933,113 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21442,378,891 - 42,409,676 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111107,019,015 - 107,060,784 (+)NCBI
Aldh2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474720,407,190 - 20,438,605 (-)NCBI

Position Markers
119668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,228,564 - 112,228,964UniSTSGRCh37
Build 3612110,712,947 - 110,713,347RGDNCBI36
Celera12111,854,028 - 111,854,428RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,241,923 - 109,242,323UniSTS
G44358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,241,660 - 112,241,765UniSTSGRCh37
Build 3612110,726,043 - 110,726,148RGDNCBI36
Celera12111,867,123 - 111,867,228RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,255,000 - 109,255,105UniSTS
SHGC-82299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,228,969 - 112,229,227UniSTSGRCh37
Build 3612110,713,352 - 110,713,610RGDNCBI36
Celera12111,854,433 - 111,854,691RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,242,328 - 109,242,586UniSTS
TNG Radiation Hybrid Map1255053.0UniSTS
GDB:179565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,241,653 - 112,241,787UniSTSGRCh37
Build 3612110,726,036 - 110,726,170RGDNCBI36
Celera12111,867,116 - 111,867,250RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,254,993 - 109,255,127UniSTS
GDB:636036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,241,700 - 112,241,786UniSTSGRCh37
Build 3612110,726,083 - 110,726,169RGDNCBI36
Celera12111,867,163 - 111,867,249RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,255,040 - 109,255,126UniSTS
D12S1884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,247,533 - 112,247,664UniSTSGRCh37
Build 3612110,731,916 - 110,732,047RGDNCBI36
Celera12111,872,996 - 111,873,127RGD
Cytogenetic Map12q24.2UniSTS
HuRef12109,260,873 - 109,261,004UniSTS
TNG Radiation Hybrid Map1255041.0UniSTS
Stanford-G3 RH Map124842.0UniSTS
NCBI RH Map12720.1UniSTS
GeneMap99-G3 RH Map124788.0UniSTS
ALDH2_2950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712112,247,254 - 112,247,803UniSTSGRCh37
Build 3612110,731,637 - 110,732,186RGDNCBI36
Celera12111,872,717 - 111,873,266RGD
HuRef12109,260,594 - 109,261,143UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1021
Count of miRNA genes:632
Interacting mature miRNAs:703
Transcripts:ENST00000261733, ENST00000416293, ENST00000548536, ENST00000549106
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 52 52 52 1 3 1
Medium 2419 2695 1656 567 1257 405 4286 2081 3687 381 1384 1512 174 1 1203 2786 1 2
Low 18 296 17 5 682 8 55 115 46 34 71 98 1 1 2 5
Below cutoff 2 1 11 16 1 4 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF164120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY621070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB851683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC353712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU373813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU414258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC250939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC311128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M54931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261733   ⟹   ENSP00000261733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12111,766,933 - 111,817,532 (+)Ensembl
RefSeq Acc Id: ENST00000416293   ⟹   ENSP00000403349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12111,766,887 - 111,809,638 (+)Ensembl
RefSeq Acc Id: ENST00000548536   ⟹   ENSP00000448179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12111,766,948 - 111,809,630 (+)Ensembl
RefSeq Acc Id: ENST00000549106   ⟹   ENSP00000474669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12111,792,611 - 111,809,670 (+)Ensembl
RefSeq Acc Id: ENST00000551450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12111,812,793 - 111,813,420 (+)Ensembl
RefSeq Acc Id: NM_000690   ⟹   NP_000681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,766,933 - 111,817,532 (+)NCBI
GRCh3712112,204,691 - 112,247,789 (+)ENTREZGENE
Build 3612110,688,729 - 110,732,167 (+)NCBI Archive
HuRef12109,218,289 - 109,261,129 (+)ENTREZGENE
CHM1_112112,172,628 - 112,215,725 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001204889   ⟹   NP_001191818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,766,933 - 111,817,532 (+)NCBI
GRCh3712112,204,691 - 112,247,789 (+)ENTREZGENE
HuRef12109,218,289 - 109,261,129 (+)ENTREZGENE
CHM1_112112,172,628 - 112,215,725 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000681 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191818 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51693 (Get FASTA)   NCBI Sequence Viewer  
  AAA51694 (Get FASTA)   NCBI Sequence Viewer  
  AAA62825 (Get FASTA)   NCBI Sequence Viewer  
  AAB59500 (Get FASTA)   NCBI Sequence Viewer  
  AAD48447 (Get FASTA)   NCBI Sequence Viewer  
  AAH02967 (Get FASTA)   NCBI Sequence Viewer  
  AAH71839 (Get FASTA)   NCBI Sequence Viewer  
  AAT41621 (Get FASTA)   NCBI Sequence Viewer  
  ABY79820 (Get FASTA)   NCBI Sequence Viewer  
  ABY79821 (Get FASTA)   NCBI Sequence Viewer  
  ABY79822 (Get FASTA)   NCBI Sequence Viewer  
  ABY79823 (Get FASTA)   NCBI Sequence Viewer  
  ABY79824 (Get FASTA)   NCBI Sequence Viewer  
  ABY79825 (Get FASTA)   NCBI Sequence Viewer  
  ABY79826 (Get FASTA)   NCBI Sequence Viewer  
  ABY79827 (Get FASTA)   NCBI Sequence Viewer  
  ABY79828 (Get FASTA)   NCBI Sequence Viewer  
  ABY79829 (Get FASTA)   NCBI Sequence Viewer  
  ACF25889 (Get FASTA)   NCBI Sequence Viewer  
  ACF25890 (Get FASTA)   NCBI Sequence Viewer  
  ACF25891 (Get FASTA)   NCBI Sequence Viewer  
  ACF25892 (Get FASTA)   NCBI Sequence Viewer  
  ACF25893 (Get FASTA)   NCBI Sequence Viewer  
  ACF25894 (Get FASTA)   NCBI Sequence Viewer  
  ACF25895 (Get FASTA)   NCBI Sequence Viewer  
  ACF25896 (Get FASTA)   NCBI Sequence Viewer  
  ACF25897 (Get FASTA)   NCBI Sequence Viewer  
  ACF25898 (Get FASTA)   NCBI Sequence Viewer  
  ADO22228 (Get FASTA)   NCBI Sequence Viewer  
  BAD97093 (Get FASTA)   NCBI Sequence Viewer  
  BAG62916 (Get FASTA)   NCBI Sequence Viewer  
  CAA28990 (Get FASTA)   NCBI Sequence Viewer  
  CAA68290 (Get FASTA)   NCBI Sequence Viewer  
  CAG33272 (Get FASTA)   NCBI Sequence Viewer  
  CBJ05767 (Get FASTA)   NCBI Sequence Viewer  
  CBJ21219 (Get FASTA)   NCBI Sequence Viewer  
  EAW97973 (Get FASTA)   NCBI Sequence Viewer  
  EAW97974 (Get FASTA)   NCBI Sequence Viewer  
  EAW97975 (Get FASTA)   NCBI Sequence Viewer  
  EAW97976 (Get FASTA)   NCBI Sequence Viewer  
  P05091 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000681   ⟸   NM_000690
- Peptide Label: isoform 1 precursor
- UniProtKB: P05091 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191818   ⟸   NM_001204889
- Peptide Label: isoform 2 precursor
- UniProtKB: P05091 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000448179   ⟸   ENST00000548536
RefSeq Acc Id: ENSP00000403349   ⟸   ENST00000416293
RefSeq Acc Id: ENSP00000474669   ⟸   ENST00000549106
RefSeq Acc Id: ENSP00000261733   ⟸   ENST00000261733
Protein Domains
Aldedh

Promoters
RGD ID:6789638
Promoter ID:HG_KWN:16698
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_000690,   UC009ZVY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612110,688,634 - 110,689,134 (+)MPROMDB
RGD ID:6849934
Promoter ID:EP23004
Type:single initiation site
Name:HS_ALDH2
Description:Aldehyde dehydrogenase 2 mitochondrial, ALDH2 or ALDM gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3612110,688,729 - 110,688,789EPD
RGD ID:6810226
Promoter ID:HG_ACW:18916
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ALDH2.EAPR07,   SNUBLOYBY.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3612110,714,301 - 110,714,801 (+)MPROMDB
RGD ID:7225435
Promoter ID:EPDNEW_H18463
Type:multiple initiation site
Name:ALDH2_2
Description:aldehyde dehydrogenase 2 family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18464  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,766,542 - 111,766,602EPDNEW
RGD ID:7225437
Promoter ID:EPDNEW_H18464
Type:initiation region
Name:ALDH2_1
Description:aldehyde dehydrogenase 2 family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18463  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,766,933 - 111,766,993EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) single nucleotide variant AMED SYNDROME, DIGENIC [RCV001290000]|Acute alcohol sensitivity [RCV000020058]|Alcohol dependence [RCV000020059]|Esophageal cancer, alcohol-related, susceptibility to [RCV000020062]|Sublingual nitroglycerin, susceptibility to poor response to [RCV000020061]|Susceptibility to hangover [RCV000020060] Chr12:111803962 [GRCh38]
Chr12:112241766 [GRCh37]
Chr12:12q24.12
pathogenic|risk factor|drug response|protective
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13
pathogenic
NM_000690.3(ALDH2):c.448G>A (p.Ala150Thr) single nucleotide variant Malignant melanoma [RCV000062405] Chr12:111789830 [GRCh38]
Chr12:112227634 [GRCh37]
Chr12:110712017 [NCBI36]
Chr12:12q24.12
not provided
GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3 copy number gain See cases [RCV000136802] Chr12:111724654..111867329 [GRCh38]
Chr12:112162458..112305133 [GRCh37]
Chr12:110646841..110789516 [NCBI36]
Chr12:12q24.12
benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.12(chr12:111746317-111815065)x3 copy number gain See cases [RCV000141332] Chr12:111746317..111815065 [GRCh38]
Chr12:112184121..112252869 [GRCh37]
Chr12:110668504..110737252 [NCBI36]
Chr12:12q24.12
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q24.12-24.13(chr12:112194796-112304163)x3 copy number gain See cases [RCV000447646] Chr12:112194796..112304163 [GRCh37]
Chr12:12q24.12-24.13
benign|likely benign
GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246) copy number gain Abnormality of esophagus morphology [RCV000416686] Chr12:112183921..112318246 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166) copy number gain Abnormality of esophagus morphology [RCV000416877] Chr12:112183225..112327166 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000690.4(ALDH2):c.802C>T (p.Arg268Cys) single nucleotide variant Acute alcohol sensitivity [RCV000714672] Chr12:111792067 [GRCh38]
Chr12:112229871 [GRCh37]
Chr12:12q24.12
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.12-24.13(chr12:112195275-112304353)x3 copy number gain not provided [RCV000738050] Chr12:112195275..112304353 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112195275-112321569)x3 copy number gain not provided [RCV000738051] Chr12:112195275..112321569 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112199080-112304353)x3 copy number gain not provided [RCV000738052] Chr12:112199080..112304353 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12(chr12:112206895-112298257)x3 copy number gain not provided [RCV000738053] Chr12:112206895..112298257 [GRCh37]
Chr12:12q24.12
benign
GRCh37/hg19 12q24.12-24.13(chr12:112206895-112304353)x3 copy number gain not provided [RCV000738054] Chr12:112206895..112304353 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112206895-112336694)x3 copy number gain not provided [RCV000738055] Chr12:112206895..112336694 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112182465-112304353)x3 copy number gain not provided [RCV000750577] Chr12:112182465..112304353 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112182465-112308111)x3 copy number gain not provided [RCV000750578] Chr12:112182465..112308111 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12(chr12:112186274-112298257)x3 copy number gain not provided [RCV000750579] Chr12:112186274..112298257 [GRCh37]
Chr12:12q24.12
benign
GRCh37/hg19 12q24.12-24.13(chr12:112186274-112304353)x3 copy number gain not provided [RCV000750580] Chr12:112186274..112304353 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12-24.13(chr12:112186274-112321569)x3 copy number gain not provided [RCV000750581] Chr12:112186274..112321569 [GRCh37]
Chr12:12q24.12-24.13
benign
GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3 copy number gain not provided [RCV000762701] Chr12:111861041..112280895 [GRCh37]
Chr12:12q24.12
uncertain significance
NM_000690.4(ALDH2):c.1323G>A (p.Thr441=) single nucleotide variant not provided [RCV000922931] Chr12:111799980 [GRCh38]
Chr12:112237784 [GRCh37]
Chr12:12q24.12
benign
NM_000690.4(ALDH2):c.910G>A (p.Val304Met) single nucleotide variant not provided [RCV000948904] Chr12:111792609 [GRCh38]
Chr12:112230413 [GRCh37]
Chr12:12q24.12
benign
NM_000690.4(ALDH2):c.731C>T (p.Thr244Met) single nucleotide variant not provided [RCV000926320] Chr12:111791355 [GRCh38]
Chr12:112229159 [GRCh37]
Chr12:12q24.12
likely benign
NM_000690.4(ALDH2):c.1249-10C>T single nucleotide variant not provided [RCV000903003] Chr12:111799896 [GRCh38]
Chr12:112237700 [GRCh37]
Chr12:12q24.12
likely benign
NM_000690.4(ALDH2):c.121A>G (p.Ile41Val) single nucleotide variant not provided [RCV000896245] Chr12:111781924 [GRCh38]
Chr12:112219728 [GRCh37]
Chr12:12q24.12
likely benign
NM_000690.4(ALDH2):c.1464G>A (p.Ser488=) single nucleotide variant not provided [RCV000959731] Chr12:111803916 [GRCh38]
Chr12:112241720 [GRCh37]
Chr12:12q24.12
benign
NM_000690.4(ALDH2):c.274C>A (p.Pro92Thr) single nucleotide variant not provided [RCV000959929] Chr12:111783212 [GRCh38]
Chr12:112221016 [GRCh37]
Chr12:12q24.12
benign
NM_000690.4(ALDH2):c.537C>T (p.Cys179=) single nucleotide variant not provided [RCV000919887] Chr12:111789919 [GRCh38]
Chr12:112227723 [GRCh37]
Chr12:12q24.12
likely benign
NM_000690.4(ALDH2):c.1044C>T (p.Val348=) single nucleotide variant not provided [RCV000927243] Chr12:111792743 [GRCh38]
Chr12:112230547 [GRCh37]
Chr12:12q24.12
likely benign
NM_000690.4(ALDH2):c.313C>T (p.Leu105=) single nucleotide variant not provided [RCV000907887] Chr12:111783251 [GRCh38]
Chr12:112221055 [GRCh37]
Chr12:12q24.12
benign
NM_000690.4(ALDH2):c.850T>C (p.Leu284=) single nucleotide variant not provided [RCV000886456] Chr12:111792115 [GRCh38]
Chr12:112229919 [GRCh37]
Chr12:12q24.12
benign
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12
pathogenic
NM_000690.4(ALDH2):c.552+1G>T single nucleotide variant Acute alcohol sensitivity [RCV001292858] Chr12:111789935 [GRCh38]
Chr12:112227739 [GRCh37]
Chr12:12q24.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:404 AgrOrtholog
COSMIC ALDH2 COSMIC
Ensembl Genes ENSG00000111275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261733 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000448179 UniProtKB/TrEMBL
  ENSP00000474669 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261733 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416293 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000548536 UniProtKB/TrEMBL
  ENST00000549106 UniProtKB/TrEMBL
Gene3D-CATH 3.40.309.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.605.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111275 GTEx
HGNC ID HGNC:404 ENTREZGENE
Human Proteome Map ALDH2 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:217 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 217 ENTREZGENE
OMIM 100650 OMIM
  610251 OMIM
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ALDH2 RGD, PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NPN7_HUMAN UniProtKB/TrEMBL
  ALDH2_HUMAN UniProtKB/Swiss-Prot
  B0LUF9_HUMAN UniProtKB/TrEMBL
  B0LUG0_HUMAN UniProtKB/TrEMBL
  B0LUG2_HUMAN UniProtKB/TrEMBL
  B4YAH7_HUMAN UniProtKB/TrEMBL
  F8VSB0_HUMAN UniProtKB/TrEMBL
  P05091 ENTREZGENE
  Q9UN17_HUMAN UniProtKB/TrEMBL
  S4R3S4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DW54 UniProtKB/Swiss-Prot
  E7EUE5 UniProtKB/Swiss-Prot
  Q03639 UniProtKB/Swiss-Prot
  Q6IB13 UniProtKB/Swiss-Prot
  Q6IV71 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-13 ALDH2  aldehyde dehydrogenase 2 family member    aldehyde dehydrogenase 2 family (mitochondrial)  Symbol and/or name change 5135510 APPROVED