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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 58
  • 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 58

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 ethanol degradation IV and Metabolism. 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

Additional gene information for ALDH2 Gene

No data available for CIViC summary , 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
GH12H111740 1.2 ENCODE dbSUPER 25.4 -25.3 -25273 2 HDAC1 PKNOX1 TBL1XR1 ARNT NFRKB TCF12 ZNF766 GATA2 SCRT2 ATF7 ALDH2 GC12M111739 GC12M111745
GH12H111772 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +8.9 8858 6.2 HDGF PKNOX1 FOXA2 ARNT ARID4B DMAP1 YY1 SLC30A9 ZNF766 SP5 ALDH2 ACAD10 BRAP SH2B3 FAM109A GC12P111792
GH12H111791 0.9 ENCODE dbSUPER 25.9 +25.1 25142 1.9 HDGF MAX REST RAD21 NR2F2 YY1 FOSL1 JUND ATF3 HNF4G ALDH2 GC12P111790 GC12P111791 MIR6761
GH12H111991 1.5 Ensembl ENCODE dbSUPER 13.3 +226.9 226850 4.1 HDGF ATF1 ARNT TCF12 ZNF766 ATF7 RUNX3 NCOA1 JUNB ZNF592 TMEM116 ADAM1A ALDH2 GC12P111993 GC12M112001
GH12H111396 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -368.5 -368480 3.8 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 CBX5 ZNF207 ZNF143 ALDH2 SH2B3 ADAM1A HSPA8P14
- Elite enhancer and/or Elite enhancer-gene association 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

Genomic Locations for ALDH2 Gene

Genomic Locations for ALDH2 Gene
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

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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:0051287 NAD binding ISS 12693930
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

CRISPR Products

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALDH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH2 Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma inhibitor, Target 39
Nitroglycerin Approved, Investigational Pharma Enzyme, substrate 166
Amyl Nitrite Approved Pharma Enzyme, substrate 1
Guanidine Approved Pharma Target 0
Ethanol Approved Pharma 2226

(72) Additional Compounds for ALDH2 Gene - From: HMDB and Novoseek

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

Drug Products

Transcripts for ALDH2 Gene

Unigene Clusters for ALDH2 Gene

Aldehyde dehydrogenase 2 family (mitochondrial):
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 CGAP 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:


Evidence on tissue expression from TISSUES for ALDH2 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Muscle(4.6)
  • Lung(3.4)
  • Heart(3.3)
  • Intestine(3.2)
  • Stomach(3.1)
  • Blood(2.9)
  • Kidney(2.9)
  • Skin(2.8)
  • Adrenal gland(2.4)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
Head and neck:
  • face
  • head
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with ALDH2: view

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 33
  • 99.69 (n)
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
ALDH2 33
  • 88.87 (n)
-- 34
  • 83 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
(Bos Taurus)
Mammalia ALDH2 33 34
  • 89.5 (n)
(Rattus norvegicus)
Mammalia Aldh2 33
  • 88.24 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
(Mus musculus)
Mammalia Aldh2 16 34 33
  • 86.82 (n)
(Gallus gallus)
Aves -- 34
  • 84 (a)
ALDH2 33
  • 76.55 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh2 33
  • 72.81 (n)
(Danio rerio)
Actinopterygii aldh2.2 34
  • 77 (a)
aldh2.1 33
  • 72.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aldh 33 34
  • 68.27 (n)
CG3752 35
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003652 33
  • 67.59 (n)
(Caenorhabditis elegans)
Secernentea alh-1 33
  • 61.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL044W 33
  • 55.58 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07777g 33
  • 52.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD5 33
  • 52.01 (n)
ALD6 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B4 33
  • 58.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03415 33
  • 61.5 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC9E9.09c 33
  • 56.66 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10427 33
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
rs1000057878 -- 111,802,832(+) CCGAG(A/G)TCGCA intron-variant
rs1000065244 -- 111,780,341(+) ATTAC(A/G)TTCTA intron-variant
rs1000100310 -- 111,765,123(+) CCCCC(A/C)AGAGT upstream-variant-2KB
rs1000171572 -- 111,766,663(+) TTGGG(A/G)TCAAA upstream-variant-2KB

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

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

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

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

Disorder Aliases PubMed IDs
alcohol sensitivity, acute
  • hangover
alcohol dependence
  • alcohol dependence, protection against
alcoholic neuropathy
  • alcohol-related polyneuropathy
alcohol abuse
  • alcoholism
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. ALDH2 genetic polymorphism and the risk of type II diabetes mellitus in CAD patients. (PMID: 19876063) Xu F … Zhang Y (Hypertension research : official journal of the Japanese Society of Hypertension 2010) 3 22 45 60
  2. Absence of association on aldehyde dehydrogenase 2 (ALDH2) polymorphism with Mongolian Alzheimer patients. (PMID: 19914339) Zhou S … Ma X (Neuroscience letters 2010) 3 22 45 60
  3. Association of ALDH2 genotypes with periodontitis progression. (PMID: 20042735) Nishida N … Shizukuishi S (Journal of dental research 2010) 3 22 45 60
  4. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PMID: 20205700) Linneberg A … Husemoen LL (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2010) 3 22 45 60
  5. 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 (The Tohoku journal of experimental medicine 2010) 3 22 45 60

Products for ALDH2 Gene

Sources for ALDH2 Gene

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