Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	217
Gene name	Aldehyde dehydrogenase 2 family member
Gene symbol	ALDH2
Synonyms (NCBI Gene)	ALDH-E2ALDHIALDM
Chromosome	12
Chromosome location	12q24.12
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 b

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SNP ID	Visualize variation	Clinical significance	Consequence
rs671	G>A	Drug-response, protective, risk-factor	Coding sequence variant, missense variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016754	hsa-miR-335-5p	Microarray	18185580
MIRT023536	hsa-miR-1-3p	Proteomics	18668040
MIRT031438	hsa-miR-16-5p	Proteomics	18668040
MIRT039939	hsa-miR-615-3p	CLASH	23622248
MIRT519128	hsa-miR-1245a	PAR-CLIP	23446348
MIRT519127	hsa-miR-8079	PAR-CLIP	23446348
MIRT519126	hsa-miR-4638-5p	PAR-CLIP	23446348
MIRT519125	hsa-miR-6790-3p	PAR-CLIP	23446348
MIRT519124	hsa-miR-6821-3p	PAR-CLIP	23446348
MIRT519123	hsa-miR-4765	PAR-CLIP	23446348
MIRT519122	hsa-miR-640	PAR-CLIP	23446348
MIRT519128	hsa-miR-1245a	PAR-CLIP	23446348
MIRT519127	hsa-miR-8079	PAR-CLIP	23446348
MIRT519126	hsa-miR-4638-5p	PAR-CLIP	23446348
MIRT519125	hsa-miR-6790-3p	PAR-CLIP	23446348
MIRT519124	hsa-miR-6821-3p	PAR-CLIP	23446348
MIRT519123	hsa-miR-4765	PAR-CLIP	23446348
MIRT519122	hsa-miR-640	PAR-CLIP	23446348
MIRT777131	hsa-miR-30a	CLIP-seq
MIRT777132	hsa-miR-30b	CLIP-seq
MIRT777133	hsa-miR-30c	CLIP-seq
MIRT777134	hsa-miR-30d	CLIP-seq
MIRT777135	hsa-miR-30e	CLIP-seq
MIRT777136	hsa-miR-3689a-5p	CLIP-seq
MIRT777137	hsa-miR-3689b	CLIP-seq
MIRT777138	hsa-miR-3689e	CLIP-seq
MIRT777139	hsa-miR-3689f	CLIP-seq
MIRT777140	hsa-miR-4274	CLIP-seq
MIRT777141	hsa-miR-4423-5p	CLIP-seq
MIRT777142	hsa-miR-4519	CLIP-seq
MIRT2170127	hsa-miR-1185	CLIP-seq
MIRT2170128	hsa-miR-3065-3p	CLIP-seq
MIRT2170129	hsa-miR-3140-5p	CLIP-seq
MIRT2170130	hsa-miR-330-3p	CLIP-seq
MIRT2170131	hsa-miR-3679-5p	CLIP-seq
MIRT777136	hsa-miR-3689a-5p	CLIP-seq
MIRT777137	hsa-miR-3689b	CLIP-seq
MIRT777138	hsa-miR-3689e	CLIP-seq
MIRT777139	hsa-miR-3689f	CLIP-seq
MIRT2170132	hsa-miR-3919	CLIP-seq
MIRT2170133	hsa-miR-3942-3p	CLIP-seq
MIRT777140	hsa-miR-4274	CLIP-seq
MIRT2170134	hsa-miR-4282	CLIP-seq
MIRT2170135	hsa-miR-4291	CLIP-seq
MIRT2170136	hsa-miR-4326	CLIP-seq
MIRT777141	hsa-miR-4423-5p	CLIP-seq
MIRT2170137	hsa-miR-4476	CLIP-seq
MIRT777142	hsa-miR-4519	CLIP-seq
MIRT2170138	hsa-miR-4753-3p	CLIP-seq
MIRT2170139	hsa-miR-4756-3p	CLIP-seq
MIRT2170140	hsa-miR-4766-5p	CLIP-seq
MIRT2170141	hsa-miR-4768-5p	CLIP-seq
MIRT2170142	hsa-miR-4793-5p	CLIP-seq
MIRT2170143	hsa-miR-513a-3p	CLIP-seq
MIRT2170144	hsa-miR-520d-5p	CLIP-seq
MIRT2170145	hsa-miR-524-5p	CLIP-seq
MIRT2170146	hsa-miR-548c-3p	CLIP-seq
MIRT2170147	hsa-miR-621	CLIP-seq
MIRT2384067	hsa-miR-578	CLIP-seq
MIRT2170128	hsa-miR-3065-3p	CLIP-seq
MIRT2473006	hsa-miR-3148	CLIP-seq
MIRT2473007	hsa-miR-3674	CLIP-seq
MIRT2170133	hsa-miR-3942-3p	CLIP-seq
MIRT2170134	hsa-miR-4282	CLIP-seq
MIRT2170135	hsa-miR-4291	CLIP-seq
MIRT2473008	hsa-miR-4496	CLIP-seq
MIRT2170138	hsa-miR-4753-3p	CLIP-seq
MIRT2170141	hsa-miR-4768-5p	CLIP-seq
MIRT2170143	hsa-miR-513a-3p	CLIP-seq
MIRT2170128	hsa-miR-3065-3p	CLIP-seq
MIRT2473006	hsa-miR-3148	CLIP-seq
MIRT2473007	hsa-miR-3674	CLIP-seq
MIRT2170133	hsa-miR-3942-3p	CLIP-seq
MIRT2170134	hsa-miR-4282	CLIP-seq
MIRT2170135	hsa-miR-4291	CLIP-seq
MIRT2473008	hsa-miR-4496	CLIP-seq
MIRT2170138	hsa-miR-4753-3p	CLIP-seq
MIRT2170141	hsa-miR-4768-5p	CLIP-seq
MIRT2170143	hsa-miR-513a-3p	CLIP-seq
MIRT2384067	hsa-miR-578	CLIP-seq
MIRT2674900	hsa-miR-628-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	4015840, 19506075, 20062057, 27521998
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	TAS	1306115
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	TAS	8903321
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005975	Process	Carbohydrate metabolic process	TAS	8903321
GO:0006066	Process	Alcohol metabolic process	TAS	1306115
GO:0006067	Process	Ethanol metabolic process	IBA
GO:0006068	Process	Ethanol catabolic process	IEA
GO:0008957	Function	Phenylacetaldehyde dehydrogenase (NAD+) activity	ISS
GO:0009055	Function	Electron transfer activity	TAS	8903321
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0018937	Process	Nitroglycerin metabolic process	IDA	19506075
GO:0046185	Process	Aldehyde catabolic process	IBA
GO:0046185	Process	Aldehyde catabolic process	IDA	20062057, 27521998
GO:0051287	Function	NAD binding	ISS	12693930
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0106435	Function	Carboxylesterase activity	IDA	19506075
GO:0110095	Process	Cellular detoxification of aldehyde	IBA
GO:1903179	Process	Regulation of dopamine biosynthetic process	IEA
GO:1903179	Process	Regulation of dopamine biosynthetic process	ISS
GO:1905627	Process	Regulation of serotonin biosynthetic process	IEA
GO:1905627	Process	Regulation of serotonin biosynthetic process	ISS

MIM	HGNC	e!Ensembl
100650	404	ENSG00000111275

P05091

Protein name

Aldehyde dehydrogenase, mitochondrial (EC 1.2.1.3) (ALDH class 2) (ALDH-E2) (ALDHI)

Protein function

Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage.

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 , 5L13 , 8DR9 , 8SHS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	45 → 508	Aldehyde dehydrogenase family	Family

Sequence

MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPS
TGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLA
ALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCG
QIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG
FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADM
DWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGP
QVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGP
VMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS
PFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS

Sequence length

517

Interactions

View interactions

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Alcohol dependence	drug response	rs671	RCV000020059
Alcohol sensitivity, acute	drug response; Uncertain significance; Likely benign	rs671, rs201835306, rs543030829	RCV000020058 RCV000714672 RCV002502822
ALDH2-related disorder	Benign; drug response; Likely benign	rs58280059, rs671, rs201108880, rs190914158, rs141574314, rs543030829, rs141556759	RCV003912260 RCV005357155 RCV003933274 RCV003943099 RCV003958052 RCV003970537 RCV003923296
AMED syndrome, digenic	drug response	rs671	RCV001290000
ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO	drug response	rs671	RCV000020062
ethanol response - Toxicity	drug response	rs671	RCV001787815
NITROGLYCERIN, POOR RESPONSE TO	drug response	rs671	RCV006272361
Susceptibility to hangover	drug response	rs671	RCV000020060
Thyroid cancer, nonmedullary, 1	-	rs199847950	RCV006061714

Show/Hide Text Mining Associations (182)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	37822152
Acute Coronary Syndrome	Associate	21958412, 29441687, 32160861
Acute Lung Injury	Associate	31209184
Adenocarcinoma	Associate	17559142, 34022841, 36289279
Adenocarcinoma of Lung	Associate	36289279, 37335087, 37589509, 39735553
Adenoma	Associate	16108833
Adenomatous Polyposis Coli	Associate	36923554
Albuminuria	Associate	26599441
Alcohol Related Disorders	Associate	35670037
Alcoholism	Associate	11748356, 15679538, 18322963, 19456322, 20652463, 22155604, 22703580, 23134043, 23134050, 26284938, 26364564, 28158658, 28578603, 29323248, 30629674, 35169188, 37314537, 37378938 View all (3 more)
Alcoholism	Inhibit	35657923
alpha 1 Antitrypsin Deficiency	Associate	26174136
Alzheimer Disease	Associate	19456322, 27808372, 29425204
Anemia Aplastic	Associate	39726306
Anemia Hemolytic	Associate	27377053
Anemia Macrocytic	Associate	28158658
Angina Pectoris	Associate	10503603
Angina Unstable	Associate	17984618
Anxiety	Associate	37314537
Anxiety Disorders	Associate	29425204
Aortic Aneurysm Abdominal	Inhibit	37822152
Arteriosclerosis	Associate	37355582
Asthma	Associate	11506308
Atherosclerosis	Inhibit	27270535
Atherosclerosis	Associate	30507608, 36411700
Atrial Fibrillation	Associate	27927211, 34827557
Binge Drinking	Associate	22155604, 36028843
Bipolar Disorder	Associate	29425204
Bone Marrow Failure Disorders	Associate	24037726, 27377053, 39726306
Brain Ischemia	Associate	25253673
Breast Neoplasms	Associate	31066241, 32300124, 36200595, 37943872, 38310106
Breast Neoplasms Male	Associate	30850364
Capillary Malformation Arteriovenous Malformation	Associate	24037726
Carcinogenesis	Associate	35102643
Carcinoma Basal Cell	Associate	21672255
Carcinoma Hepatocellular	Associate	12759747, 18439068, 29582627, 29600553, 35855852, 35877121, 38521503, 9575688
Carcinoma Hepatocellular	Inhibit	37335078
Carcinoma Non Small Cell Lung	Associate	35477569, 37395022
Carcinoma Squamous Cell	Associate	18322963, 18429959, 27038040, 29423536, 34010294, 34022841, 36289279, 37395022
Cardiomyopathies	Associate	20467232, 27153870
Cardiovascular Diseases	Associate	27270535, 29441687, 30507608, 33276716, 33349921
Carotid Artery Diseases	Associate	17984618
Carotid Intimal Medial Thickness 1	Associate	27270535
Cerebral Cortical Thinning	Associate	34593890
Cerebral Hemorrhage	Associate	32107439
Cerebral Infarction	Associate	32481290, 34257742, 40026415, 40304040
Cerebral Palsy Ataxic Autosomal Recessive	Associate	19096130
Cerebral Small Vessel Diseases	Associate	40603063
Cerebrovascular Disorders	Associate	33651448
Chemotherapy Related Cognitive Impairment	Associate	36200595
Cognition Disorders	Associate	27453488, 29425204, 34257742, 36200595, 40603063
Cognitive Dysfunction	Associate	27453488
Colorectal Neoplasms	Associate	10470282, 15780035, 18763293, 19456322, 22901167, 24282520, 25573590, 27706775, 33421985, 36426922, 36923554
Colorectal Neoplasms	Inhibit	33421985
Congenital Bone Marrow Failure Syndromes	Associate	33512438
Congenital Hypothyroidism	Associate	30629674
Coronary Aneurysm	Associate	27904031, 32009064
Coronary Artery Disease	Associate	21971053, 25047496, 25253673, 26946290, 29960587, 30261890, 31345174
Coronary Disease	Associate	25591559, 25803854, 29742731
Coronary Vasospasm	Associate	27153870
Coxa Magna	Associate	14768474
Darier Disease	Associate	9529352
Death	Associate	29441687, 33651448, 40603063
Depressive Disorder	Associate	26599441, 37314537
Developmental Defects of Enamel	Associate	27377053
Diabetes Complications	Associate	26599441
Diabetes Mellitus	Associate	17984618, 20700531, 22155604, 26284938, 31345174, 33276716, 33349921, 33651448, 36050775, 9575688
Diabetes Mellitus Type 2	Associate	24028448, 33651448, 40304040
Diabetic Retinopathy	Associate	24028448
Digestive System Neoplasms	Associate	21437268, 37871625
Dizziness	Associate	28578603
DNA Virus Infections	Associate	30065307
Drug Related Side Effects and Adverse Reactions	Associate	23545897
Drug Resistant Epilepsy	Associate	36050775
Dyslipidemias	Associate	29960587
Embolic Stroke	Associate	26708676
Endometrial Neoplasms	Associate	34195683, 34670872
Esophageal Neoplasms	Associate	16127737, 16235983, 16273622, 17963305, 19452585, 19456322, 19472401, 20518787, 20632450, 21672255, 22292652, 22703580, 22930414, 23134043, 26862830 View all (13 more)
Esophageal Squamous Cell Carcinoma	Associate	10896918, 16127737, 16639733, 18322963, 18429959, 19472401, 20128036, 20632450, 21672255, 21926110, 22292652, 23667679, 26873401, 27038040, 28464297 View all (7 more)
Esophageal Squamous Cell Carcinoma	Stimulate	20128036
Esophageal Squamous Cell Carcinoma	Inhibit	21926110
Essential Hypertension	Associate	21476199, 27270535
Fanconi Anemia	Associate	24037726, 32487094, 33512438, 36345163, 39726306
Fetal Growth Retardation	Associate	31138432
Fibrosis	Associate	26284938, 35877121
Flushing	Associate	20518787, 22234728, 27153870, 27904031, 28578603, 29323248, 29707772, 30629674, 33512438, 34680942, 36345163
Folate Malabsorption Hereditary	Associate	28228507
Fowler Christmas Chapple syndrome	Associate	27038040
Fuchs' Endothelial Dystrophy	Associate	31209184
Glaucoma	Associate	33060820
Glaucoma Open Angle	Associate	33060820
Glucose Intolerance	Associate	20700531
Glucosephosphate Dehydrogenase Deficiency	Associate	28464297
Gout	Associate	27181629, 28566767, 28642574, 33858492
Head and Neck Neoplasms	Associate	10896918, 31957322, 33132654
Heart Diseases	Associate	28578603, 38177014
Heart Failure	Associate	38177014
Helicobacter Infections	Associate	14711373
Hematologic Diseases	Associate	39726306
Hepatitis B	Associate	35877121
Hip Fractures	Associate	28348376
Hypertension	Associate	11510748, 22155604, 22839215, 23615284, 26318866, 27270535, 28562329, 28894224, 32141245, 32843694, 32987175, 33276716, 33349921, 34260573, 35346052, 9575688 View all (1 more)
Hypertension Pulmonary	Associate	38177014
Hypotension	Associate	28578603
Infarction Anterior Cerebral Artery	Associate	26708676
Infections	Inhibit	28578603
Inferior Wall Myocardial Infarction	Associate	28939800
Inflammation	Associate	21958412, 34362382, 39328412
Intellectual Disability	Associate	39726306
Intervertebral disc disease	Associate	30166580
Kidney Failure Chronic	Associate	18974607
Knee Fractures	Associate	34362382
Laryngeal Neoplasms	Associate	28841898
LEOPARD Syndrome	Associate	36050775
Leukemia Myeloid Acute	Associate	33253299, 33893150, 37761947, 39726306
Leukemia T Cell	Associate	27377053
Leukopenia	Associate	28158658
Liver Cirrhosis Alcoholic	Associate	11748356, 16273622, 34033144, 37378938
Liver Diseases	Associate	26599441
Liver Diseases Alcoholic	Associate	19456322, 29582627
Liver Failure	Associate	22155604, 29582627
Lung Diseases	Associate	35048370
Lung Neoplasms	Associate	17559142, 22079344, 30088263, 35477569, 37395022
Lymphatic Metastasis	Associate	35013309
Melanosis	Associate	28218985
Mesothelioma Malignant	Associate	36523602
Metabolic Side Effects of Drugs and Substances	Associate	35102643
Metabolic Syndrome	Associate	26174136, 28371326
Mitochondrial Diseases	Associate	31209184
Multiple Trauma	Associate	10896918
Myelodysplastic Syndromes	Associate	39726306
Myocardial Infarction	Associate	10503603, 12452318, 20467232, 26599441, 27153870, 28056995, 30886860, 34799616, 35787671
Myocardial Ischemia	Associate	20467232, 25253673
Myocardial Stunning	Associate	20467232
N syndrome	Inhibit	36411700
Nasopharyngeal Carcinoma	Associate	34680942
Neoplasm Invasiveness	Associate	35013309
Neoplasm Metastasis	Associate	35477569, 35657923
Neoplasms	Associate	19472401, 20652463, 23106910, 23134043, 26862830, 26992901, 28881356, 29426835, 30088263, 30166580, 31204364, 34022841, 34024796, 35048370, 35169188 View all (10 more)
Neoplasms	Inhibit	33477333
Neoplasms Cystic Mucinous and Serous	Associate	29247577
Neoplasms Squamous Cell	Associate	21672255, 30639619
Neuroaxonal Dystrophies	Associate	37314537
Neurodegenerative Diseases	Associate	36050775
Neurologic Manifestations	Associate	26708676
Neurotoxicity Syndromes	Associate	27453488, 37314537
Non alcoholic Fatty Liver Disease	Associate	27214654, 32987175
Non alcoholic Fatty Liver Disease	Stimulate	29718361
Obesity	Associate	33276716
Oropharyngeal Neoplasms	Associate	28841898, 29206831
Orthostatic Hypotensive Disorder Streeten Type	Associate	26364564
Osteoarthritis Knee	Associate	34362382
Osteoporosis	Associate	28348376, 35657923
Ovarian Neoplasms	Associate	29247577
Pancreatic Neoplasms	Associate	19068087, 35102643
Pancreatitis	Associate	34267279
Pancreatitis Alcoholic	Associate	16273622
Parkinson Disease	Associate	27453488, 27612022, 27706693
Peptic Ulcer	Associate	19469618
Plaque Amyloid	Associate	34593890
Precancerous Conditions	Associate	19472401, 21672255, 32539207, 35102643, 36028843
Pressure Ulcer	Associate	29323248
Prostatic Neoplasms	Associate	36144737
Pulmonary Disease Chronic Obstructive	Associate	24188068
Rectal Neoplasms	Associate	12033531, 25573590
Respiratory Tract Infections	Associate	25408144
Sjogren Larsson Syndrome	Inhibit	10503603
Sjogren Larsson Syndrome	Associate	10503603, 27377053, 28056995
Squamous Cell Carcinoma of Head and Neck	Associate	17033202, 17489985, 21940907, 26804037, 28841898, 34010294, 34546328
ST Elevation Myocardial Infarction	Associate	21958412, 27153870
Stenosis Pulmonary Artery	Associate	38177014
Stomach Neoplasms	Associate	21133627, 23079843, 28002588, 28036260, 29166882, 31957322, 32356421, 32426482, 39328412
Stroke	Associate	22155604, 28056995, 30955975, 34257742
Stroke Lacunar	Associate	35733147
Syncope Vasovagal	Associate	36307771
Syndrome	Associate	39726306
Tricuspid Valve Insufficiency	Associate	38177014
Tuberculosis	Associate	24690209
Urinary Bladder Neoplasms	Associate	24666523, 26992901
Vascular Diseases	Associate	18061070, 40603063
Vascular Remodeling	Associate	38177014
Ventricular Remodeling	Associate	29016726

ALDH2 (aldehyde dehydrogenase 2 family member)