Property Summary

NCBI Gene PubMed Count 500
Grant Count 199
R01 Count 99
Funding $26,174,768.74
PubMed Score 942.00
PubTator Score 980.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (55)

Disease Z-score Confidence
Alcohol dependence 107 6.858 3.4
Substance abuse 55 4.587 2.3
Cancer 2,346 4.179 2.1
Liver disease 219 3.938 2.0
Coronary artery disease 240 3.576 1.8
Succinic semialdehyde dehydrogenase defi... 16  3.456 1.7
Heroin dependence 30 3.215 1.6
Alcoholic neuropathy 4 3.159 1.6
ALCOHOL SENSITIVITY, ACUTE 1
Alcoholic Intoxication, Chronic 41
Alcoholism 14
Asthma 349
Brain infarction 17 1.0
Cerebrovascular accident 44
Colorectal Neoplasms 217
Complications of Diabetes Mellitus 5
Coronary heart disease 59
Dermatitis, Occupational 4
Esophageal Neoplasms 67
Esophageal cancer 21 2.0
Flushing 5
HANGOVER, SUSCEPTIBILITY TO (finding) 1
Intracranial aneurysm 20 1.0
Kidney disease 396 2.0
Liver Cirrhosis, Experimental 108
Male infertility 170
Malignant neoplasm of esophagus 18
Necrotizing Enterocolitis 17
Precancerous Conditions 69
SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY... 1 
Squamous cell carcinoma of esophagus 82
Vascular Diseases 16
Ventricular Dysfunction 7
atypical teratoid / rhabdoid tumor 4,369
breast carcinoma 1,614
chronic lymphosyte leukemia 232
ductal carcinoma in situ 1,745
fibroadenoma 557
glioblastoma 5,572
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
limb girdle muscular dystrophy 2B 74
lung adenocarcinoma 2,713
lung cancer 4,466
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pediatric high grade glioma 2,712
pituitary cancer 1,972
primitive neuroectodermal tumor 3,031
psoriasis 6,685
substance-related disorder 105 2.0

Expression

Synonym

Accession P05091 B4DW54 E7EUE5 Q03639 Q6IB13 Q6IV71
Symbols ALDM
ALDHI
ALDH-E2

Gene

PANTHER Protein Class (2)

PDB

1CW3   1NZW   1NZX   1NZZ   1O00   1O01   1O02   1O04   1O05   1ZUM   2ONM   2ONN   2ONO   2ONP   2VLE   3INJ   3INL   3N80   3N81   3N82   3N83   3SZ9   4FQF   4FR8   4KWF   4KWG  

Gene RIF (542)

PMID Text
27214654 Tthe ALDH2*2 allele is associated with a risk for nonalcoholic fatty liver disease in relation to an elevated gamma-glutamyl transferase level.
26995653 The results show that the variant rs671 in ALDH2 is associated with an increased risk of coronary artery disease in southern Chinese, while not in northern Chinese.
26848198 the combination of genotypes ADH2 * 2, CYP2E1 * 1 combined with genotype homozygous ALDH2 * 1 found in this study could be leading to the population to a potential risk to alcoholism.
26832618 ALDH2 polymorphism has a significant impact on human health[review]
26804999 many types of cancers are associated with ALDH2 mutation, such as hepatocellular carcinoma, gastric cancer, and colon cancer; there may be a connection between the single nucleotide polymorphism of ALDH2 rs671 and these cancers
26687910 population-level instrumental variable estimation (utilizing interaction of rs671 in ALDH2 and sex as an instrument) strengthens causal inference regarding the largely adverse influence of alcohol intake on cardiovascular health in an Asian population.
26491656 Evidence suggests that ALDH2 Glu504Lys SNP is a potential candidate genetic risk factor for a variety of chronic diseases such as cardiovascular disease, cancer, and late-onset Alzheimer's disease.
26364564 The A allele of rs671 was strongly associated with reduced odds of being an alcohol drinker in all groups.
26339786 patients with the G-allele displayed retarded methylation readjustment and no change in ALDH2 protein levels.
26318866 The genotype frequencies of ALDH2 polymorphisms were 62.6, 32.7, and 4.7% for *1/*1, *1/*2, and *2/*2, respectively. Systolic blood pressure and diastolic blood pressure in the *1/*2 or *2/*2 group were significantly lower than those in the *1/*1 group.
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AA Sequence

MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAE      1 - 70
GDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLD     71 - 140
MVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKV    141 - 210
AEQTPLTALYVANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLK    211 - 280
RVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGN    281 - 350
PFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGP    351 - 420
VMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGS    421 - 490
GRELGEYGLQAYTEVKTVTVKVPQKNS                                               491 - 517
//

Text Mined References (504)

PMID Year Title
27214654 2016 The longitudinal effect of the aldehyde dehydrogenase 2*2 allele on the risk for nonalcoholic fatty liver disease.
26995653 2016 Impacts of common variants in ALDH2 on coronary artery disease patients.
26848198 2015 Characterization of polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 and relationship to the alcoholism in a Colombian population.
26832618 2016 [Fundamental Properties of Aldehyde Dehydrogenase 2 (ALDH2) and the Importance of the ALDH2 Polymorphism].
26804999 2016 ALDH2 gene polymorphism in different types of cancers and its clinical significance.
26687910 2015 Alcohol intake and cardiovascular risk factors: A Mendelian randomisation study.
26491656 2015 Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases.
26364564 2015 Exploring causal associations of alcohol with cardiovascular and metabolic risk factors in a Chinese population using Mendelian randomization analysis.
26339786 2016 Impaired Regulation of ALDH2 Protein Expression Revealing a Yet Unknown Epigenetic Impact of rs886205 on Specific Methylation of a Negative Regulatory Promoter Region in Alcohol-Dependent Patients.
26318866 2016 Associations between aldehyde dehydrogenase 2 (ALDH2) genetic polymorphisms, drinking status, and hypertension risk in Japanese adult male workers: a case-control study.
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