ALDH2 (aldehyde dehydrogenase 2 family member)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
217
Gene name Gene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 2 family member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALDH2
Synonyms (NCBI Gene) Gene synonyms aliases
ALDH-E2, ALDHI, ALDM
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
100650 404 ENSG00000111275
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Ascorbate and aldarate metabolism
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Arginine and proline metabolism
Histidine metabolism
Tryptophan metabolism
beta-Alanine metabolism
Glycerolipid metabolism
Pyruvate metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors
Alcoholic liver disease 		  Metabolism of serotonin
Ethanol oxidation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (15)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cirrhosis Cirrhosis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (182)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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
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