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Aliases for ALDH2 Gene

Aliases for ALDH2 Gene

  • Aldehyde Dehydrogenase 2 Family (Mitochondrial) 2 3 5
  • ALDH Class 2 3 4
  • EC 4 61
  • ALDH-E2 3 4
  • ALDHI 3 4
  • ALDM 3 4
  • Nucleus-Encoded Mitochondrial Aldehyde Dehydrogenase 2 3
  • Aldehyde Dehydrogenase, Mitochondrial 3
  • Acetaldehyde Dehydrogenase 2 3
  • Liver Mitochondrial ALDH 3
  • EC 1.2.1 61

External Ids for ALDH2 Gene

Previous GeneCards Identifiers for ALDH2 Gene

  • GC12P111101
  • GC12P111726
  • GC12P111987
  • GC12P110616
  • GC12P110667
  • GC12P112205
  • GC12P109217

Summaries for ALDH2 Gene

Entrez Gene Summary for ALDH2 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 be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]

GeneCards Summary for ALDH2 Gene

ALDH2 (Aldehyde Dehydrogenase 2 Family (Mitochondrial)) is a Protein Coding gene. Diseases associated with ALDH2 include Alcohol Sensitivity, Acute and Alcohol Dependence. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1B1.

Tocris Summary for ALDH2 Gene

  • Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol oxidation.

Gene Wiki entry for ALDH2 Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH2 Gene

Genomics for ALDH2 Gene

Regulatory Elements for ALDH2 Gene

Enhancers for ALDH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F111791 0.5 ENCODE 25.9 +25.1 25142 1.9 JUND ATF3 CREM RAD21 NR2F2 YY1 ALDH2 GC12P111790 GC12P111791 MIR6761
GH12F111740 0.7 ENCODE 25.4 -25.3 -25273 2.0 HDAC1 PKNOX1 CBX3 ARNT TBL1XR1 GATA2 SCRT2 BCLAF1 CREM ZBTB2 ALDH2 GC12M111739 GC12M111745
GH12F111772 1.5 FANTOM5 Ensembl ENCODE 14.8 +8.7 8747 6.5 PKNOX1 ATF1 ARNT ARID4B DMAP1 YY1 ZNF121 SLC30A9 ELK1 GATA2 ALDH2 ACAD10 BRAP SH2B3 FAM109A GC12P111792
GH12F111757 1.2 Ensembl ENCODE 14.8 -8.5 -8518 2.5 TEAD4 MAX ZIC2 E2F1 GATA3 CTBP1 NR2F6 ZNF263 ZNF687 MTA2 ALDH2 ENSG00000257767 GC12P111759
GH12F111766 0.7 ENCODE 14.6 +0.8 834 2.8 HDGF ARID4B SIN3A FEZF1 ZNF48 ZNF2 YY1 ZNF121 SLC30A9 GLIS2 ALDH2 ADAM1A MIR6861 GC12P111792
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALDH2 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000437173 413 1801 HDGF ARID4B SIN3A FEZF1 ZNF48 ZNF2 YY1 SLC30A9 GLIS2 KLF7

Genomic Location for ALDH2 Gene

111,766,887 bp from pter
111,817,529 bp from pter
50,643 bases
Plus strand

Genomic View for ALDH2 Gene

Genes around ALDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH2 Gene

Proteins for ALDH2 Gene

  • Protein details for ALDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Aldehyde dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DW54
    • E7EUE5
    • Q03639
    • Q6IB13
    • Q6IV71

    Protein attributes for ALDH2 Gene

    517 amino acids
    Molecular mass:
    56381 Da
    Quaternary structure:
    • Homotetramer.
    • Sequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH2 Gene

    Alternative splice isoforms for ALDH2 Gene


neXtProt entry for ALDH2 Gene

Selected DME Specific Peptides for ALDH2 Gene


Post-translational modifications for ALDH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH2 Gene

Domains & Families for ALDH2 Gene

Gene Families for ALDH2 Gene

Suggested Antigen Peptide Sequences for ALDH2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH2: view

Function for ALDH2 Gene

Molecular function for ALDH2 Gene

GENATLAS Biochemistry:
aldehyde dehydrogenase 2,mitochondrial,E2 isoform
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.

Enzyme Numbers (IUBMB) for ALDH2 Gene

Gene Ontology (GO) - Molecular Function for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity TAS 8903321
GO:0009055 electron carrier activity TAS 8903321
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH2: view
genes like me logo Genes that share phenotypes with ALDH2: view

Human Phenotype Ontology for ALDH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH2 Gene

MGI Knock Outs for ALDH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ALDH2 Gene

Localization for ALDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH2 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for ALDH2 Gene COMPARTMENTS Subcellular localization image for ALDH2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALDH2: view

Pathways & Interactions for ALDH2 Gene

genes like me logo Genes that share pathways with ALDH2: view

UniProtKB/Swiss-Prot P05091-ALDH2_HUMAN

  • Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8903321
GO:0006066 alcohol metabolic process TAS 1306115
GO:0006068 ethanol catabolic process IEA --
GO:0006069 ethanol oxidation TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ALDH2: view

No data available for SIGNOR curated interactions for ALDH2 Gene

Drugs & Compounds for ALDH2 Gene

(48) Drugs for ALDH2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma inhibitor, Target Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 35
Nitroglycerin Approved, Investigational Pharma Enzyme, substrate 150
Amyl Nitrite Approved Pharma Enzyme, substrate 1
Guanidine Approved Pharma Target 0
Ethanol Approved Pharma 2043

(75) Additional Compounds for ALDH2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2E)-2-Butenal
  • (2E)-but-2-enal
  • (2Z)-2-Butenal
  • (cis)-crotonaldehyde
  • (E)-2-Butenal
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 2-Methyl-3-oxopropanoic acid
  • 3-Oxo-2-methylpropanoate
  • 3-Oxo-2-methylpropanoic acid
  • Ch3-malonate-semialdehyde

(4) Tocris Compounds for ALDH2 Gene

Compound Action Cas Number
A37 ALDH1A1 inhibitor 896795-60-1
Alda 1 ALDH2 activator; cardioprotective 349438-38-6
CVT 10216 Potent and selective ALDH2 inhibitor 1005334-57-5
WIN 18446 ALDH1a2 inhibitor 1477-57-2

(3) ApexBio Compounds for ALDH2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator 349438-38-6
CVT 10216 1005334-57-5
WIN 18446 1477-57-2
genes like me logo Genes that share compounds with ALDH2: view

Transcripts for ALDH2 Gene

Unigene Clusters for ALDH2 Gene

Aldehyde dehydrogenase 2 family (mitochondrial):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP2: -
SP3: - - - -
SP4: -

Relevant External Links for ALDH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALDH2 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH2 Gene

This gene is overexpressed in Liver (x7.0).

Protein differential expression in normal tissues from HIPED for ALDH2 Gene

This gene is overexpressed in Liver (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH2 Gene

Protein tissue co-expression partners for ALDH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALDH2 Gene:


SOURCE GeneReport for Unigene cluster for ALDH2 Gene:

genes like me logo Genes that share expression patterns with ALDH2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALDH2 Gene

Orthologs for ALDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH2 34
  • 99.69 (n)
(Canis familiaris)
Mammalia -- 35
  • 93 (a)
ALDH2 34
  • 88.87 (n)
-- 35
  • 83 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
(Bos Taurus)
Mammalia ALDH2 34 35
  • 89.5 (n)
(Rattus norvegicus)
Mammalia Aldh2 34
  • 88.24 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
(Mus musculus)
Mammalia Aldh2 34 16 35
  • 86.82 (n)
(Gallus gallus)
Aves -- 35
  • 84 (a)
ALDH2 34
  • 76.55 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh2 34
  • 72.81 (n)
(Danio rerio)
Actinopterygii aldh2.2 35
  • 77 (a)
aldh2.1 34
  • 72.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aldh 34 35
  • 68.27 (n)
CG3752 36
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003652 34
  • 67.59 (n)
(Caenorhabditis elegans)
Secernentea alh-1 34
  • 61.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL044W 34
  • 55.58 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07777g 34
  • 52.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD5 34 37
  • 52.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B4 34
  • 58.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03415 34
  • 61.5 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC9E9.09c 34
  • 56.66 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10427 34
Species where no ortholog for ALDH2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH2 Gene

Gene Tree for ALDH2 (if available)
Gene Tree for ALDH2 (if available)

Paralogs for ALDH2 Gene

Variants for ALDH2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH2 Gene

Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians.

Sequence variations from dbSNP and Humsavar for ALDH2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs671 Pathogenic 111,803,962(+) ACACT(A/G)AAGTG reference, missense
rs10450717 -- 111,785,567(+) aaaaa(C/T)acaaa intron-variant
rs1062136 -- 111,792,709(+) TGTGG(A/T)GCGGA reference, missense
rs1064903 -- 111,767,021(+) CCTGG(C/G)CGCCG reference, synonymous-codon
rs1064933 -- 111,803,919(+) TCGGG(A/G)AGTGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ALDH2 Gene

Variant ID Type Subtype PubMed ID
dgv1556n100 CNV gain 25217958
dgv2874n54 CNV gain 21841781
dgv304e214 CNV gain 21293372
dgv514e212 CNV gain 25503493
esv2760710 CNV gain 21179565
esv3630767 CNV loss 21293372
nsv455715 CNV gain 19166990
nsv470317 CNV gain 18288195
nsv515716 CNV gain 19592680

Variation tolerance for ALDH2 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for ALDH2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ALDH2 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alcohol sensitivity, acute
  • hangover
alcohol dependence
  • alcohol dependence, protection against
alcohol abuse
  • alcoholism
alcoholic neuropathy
  • alcohol-related polyneuropathy
alcoholic liver cirrhosis
  • alcoholic cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search ALDH2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for ALDH2 Gene

facial flushing reaction to alcohol

Relevant External Links for ALDH2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ALDH2: view

No data available for UniProtKB/Swiss-Prot for ALDH2 Gene

Publications for ALDH2 Gene

  1. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PMID: 20205700) Linneberg A. … Husemoen L.L. (Clin. Exp. Allergy 2010) 3 22 46 64
  2. The polymorphism in aldehyde dehydrogenase-2 gene is associated with elevated plasma levels of high-sensitivity C-reactive protein in the early phase of myocardial infarction. (PMID: 20467232) Bian Y. … Zhang Y. (Tohoku J. Exp. Med. 2010) 3 22 46 64
  3. ALDH2 genetic polymorphism and the risk of type II diabetes mellitus in CAD patients. (PMID: 19876063) Xu F. … Zhang Y. (Hypertens. Res. 2010) 3 22 46 64
  4. Absence of association on aldehyde dehydrogenase 2 (ALDH2) polymorphism with Mongolian Alzheimer patients. (PMID: 19914339) Zhou S. … Ma X. (Neurosci. Lett. 2010) 3 22 46 64
  5. Association of ALDH2 genotypes with periodontitis progression. (PMID: 20042735) Nishida N. … Shizukuishi S. (J. Dent. Res. 2010) 3 22 46 64

Products for ALDH2 Gene

  • Cloud-Clone Corp. Antibodies for ALDH2
  • Cloud-Clone Corp. Proteins for ALDH2
  • Cloud-Clone Corp Assay Kits for ALDH2

Sources for ALDH2 Gene

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