ALDH2 (aldehyde dehydrogenase 2 family member)

Gene
Gene SNPs Other IDs 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 Other IDs 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 Other IDs 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 Other IDs Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA 21873635
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 4015840
GO:0004030 Function Aldehyde dehydrogenase [NAD(P)+] activity TAS 8903321
GO:0005759 Component Mitochondrial matrix TAS
GO:0005975 Process Carbohydrate metabolic process TAS 8903321
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
100650 404 ENSG00000111275
Protein
Gene SNPs Other IDs 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (15)
Unknown
Disease term Disease name Evidence References Source
Ischemic Stroke Ischemic Stroke GWAS
Coronary Heart Disease Coronary Heart Disease GWAS
Gout Gout GWAS
Intracranial Aneurysm Intracranial Aneurysm GWAS
Show/Hide Text Mining Associations (182)
Associations from Text Mining
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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