Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs671 G>A Drug-response, protective, risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
100650 404 ENSG00000111275
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 517
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
65
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alcohol dependence drug response ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alcohol sensitivity, acute drug response; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALDH2-related disorder Benign; drug response; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 21958412, 29441687
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 16273622, 31784085
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17559142
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31071657
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16108833
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 16108833
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 16108833, 21517275
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 12173598, 29156373, 29779728
★☆☆☆☆
Found in Text Mining only
Agranulocytosis Agranulocytosis BEFREE 26917006
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19456322, 27808372, 29425204 Associate
★☆☆☆☆
Found in Text Mining only