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Aliases for ALDH2 Gene

Aliases for ALDH2 Gene

  • Aldehyde Dehydrogenase 2 Family (Mitochondrial) 2 3
  • ALDH Class 2 3 4
  • EC 1.2.1.3 4 63
  • 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 63

External Ids for ALDH2 Gene

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 Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals 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, Mar 2011]

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 alcoholic neuropathy. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include electron carrier activity and aldehyde dehydrogenase [NAD(P)+] activity. An important paralog of this gene is ALDH1A2.

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. Over 550 aldehyde genes have been identified across different species, which can be split into numerous families. There are 19 known human aldehyde dehydrogenase genes. ALDH2, a human mitochondrial enzyme belonging to family 2, is responsible for breaking down acetaldehyde produced by ethanol. Inhibition of aldehyde dehydrogenase therefore results in the build-up of acetaldehyde, a toxic metabolite which is thought to be responsible for hangover symptoms.

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

Genomic Location for ALDH2 Gene

Start:
111,766,887 bp from pter
End:
111,809,985 bp from pter
Size:
43,099 bases
Orientation:
Plus strand

Genomic View for ALDH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH2 Gene

Regulatory Elements for ALDH2 Gene

Proteins for ALDH2 Gene

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

    Protein Symbol:
    P05091-ALDH2_HUMAN
    Recommended name:
    Aldehyde dehydrogenase, mitochondrial
    Protein Accession:
    P05091
    Secondary Accessions:
    • B4DW54
    • E7EUE5
    • Q03639
    • Q6IB13
    • Q6IV71

    Protein attributes for ALDH2 Gene

    Size:
    517 amino acids
    Molecular mass:
    56381 Da
    Quaternary structure:
    • Homotetramer
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH2 Gene

Proteomics data for ALDH2 Gene at MOPED

Post-translational modifications for ALDH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ALDH2 Gene

Gene Families for ALDH2 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Suggested Antigen Peptide Sequences for ALDH2 Gene

Graphical View of Domain Structure for InterPro Entry

P05091

UniProtKB/Swiss-Prot:

ALDH2_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • P05091
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 --
genes like me logo Genes that share ontologies with ALDH2: view
genes like me logo Genes that share phenotypes with ALDH2: view

Animal Models for ALDH2 Gene

MGI Knock Outs for ALDH2:

miRNA for ALDH2 Gene

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

Localization for ALDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH2 Gene COMPARTMENTS Subcellular localization image for ALDH2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH2 Gene

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

Pathways 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:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with ALDH2: view

Compounds for ALDH2 Gene

(2) Tocris Compounds for ALDH2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator; cardioprotective [349438-38-6]
WIN 18446 ALDH1a2 inhibitor [1477-57-2]

(43) HMDB Compounds for ALDH2 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
20-oxo-leukotriene B4
  • 20-carboxyleukotriene B4
Not Available
20-Oxo-leukotriene E4
  • 20-oxo-LTE(,4)
Not Available
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
6236-08-4
2-Propyn-1-al
Not Available

(10) Drugbank Compounds for ALDH2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amyl Nitrite
  • Amyl nitrosum
110-46-3 enzyme substrate
Benzyl alcohol
  • (Hydroxymethyl)benzene
100-51-6 enzyme substrate
Crotonaldehyde
target
Daidzin
  • 4',7-Dihydroxyisoflavone
552-66-9 target
Disulfiram
  • Disulfuram
97-77-8 target inhibitor

(61) Novoseek inferred chemical compound relationships for ALDH2 Gene

Compound -log(P) Hits PubMed IDs
acetaldehyde 93.7 146
daidzin 75.3 22
ethanol 75.2 76
propionaldehyde 67.3 2
nitroglycerin 63.4 45
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:

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
SP1:
SP2: -
SP3: - - - -
SP4: -

Relevant External Links for ALDH2 Gene

GeneLoc Exon Structure for
ALDH2
ECgene alternative splicing isoforms for
ALDH2

Expression for ALDH2 Gene

mRNA expression in normal human tissues for ALDH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH2 Gene

SOURCE GeneReport for Unigene cluster for ALDH2 Gene Hs.604551

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

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia ALDH2 35
  • 99.69 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ALDH2 35
  • 89.5 (n)
  • 94.09 (a)
ALDH2 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 93 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
ALDH2 35
  • 88.87 (n)
  • 94.6 (a)
mouse
(Mus musculus)
Mammalia Aldh2 35
  • 86.82 (n)
  • 95.54 (a)
Aldh2 16
Aldh2 36
  • 95 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aldh2 35
  • 88.24 (n)
  • 96.12 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 84 (a)
OneToMany
ALDH2 35
  • 76.55 (n)
  • 85.85 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh2 35
  • 72.81 (n)
  • 83 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh2.1 35
  • 72.04 (n)
  • 78.45 (a)
aldh2.2 36
  • 77 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003652 35
  • 67.59 (n)
  • 69.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aldh 35
  • 68.27 (n)
  • 71.54 (a)
Aldh 36
  • 70 (a)
OneToMany
CG3752 37
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-1 35
  • 61.75 (n)
  • 67.91 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL044W 35
  • 55.58 (n)
  • 49.6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD5 35
  • 52.01 (n)
  • 47.52 (a)
ALD5 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07777g 35
  • 52.1 (n)
  • 50.1 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B4 35
  • 58.88 (n)
  • 61.88 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03415 35
  • 61.5 (n)
  • 59.24 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC9E9.09c 35
  • 56.66 (n)
  • 55.6 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10427 35
Species with no ortholog for ALDH2:
  • 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

ENSEMBL:
Gene Tree for ALDH2 (if available)
TreeFam:
Gene Tree for ALDH2 (if available)

Paralogs for ALDH2 Gene

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

Variants for ALDH2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH2 Gene

P05091-ALDH2_HUMAN
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 MAF
rs440 -- 111,790,910(+) TCAGC(C/T)GGGTG intron-variant
rs441 -- 111,791,045(+) CTCGG(C/T)CTCAA intron-variant
rs671 drug-response, - 111,803,962(+) ACACT(A/G)AAGTG missense, reference
rs886205 -- 111,766,623(-) GACCT(C/T)CCCGG upstream-variant-2KB
rs968529 -- 111,796,564(+) TCCAT(C/T)GGTAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1492n71 CNV Gain 21882294
nsv455715 CNV Gain 19166990
nsv470317 CNV Gain 18288195
nsv515716 CNV Gain 19592680

Relevant External Links for ALDH2 Gene

HapMap Linkage Disequilibrium report
ALDH2
Human Gene Mutation Database (HGMD)
ALDH2
Locus Specific Mutation Databases (LSDB)
ALDH2

Disorders for ALDH2 Gene

(1) OMIM Diseases for ALDH2 Gene (100650)

(56) Novoseek inferred disease relationships for ALDH2 Gene

Disease -log(P) Hits PubMed IDs
alcoholism 83.4 96
liver diseases alcoholic 66.3 15
pancreatitis alcoholic 60.7 6
alcohol abuse 56.6 1
alcoholic cirrhosis 54.8 5

Genatlas disease for ALDH2 Gene

facial flushing reaction to alcohol

Relevant External Links for ALDH2

Genetic Association Database (GAD)
ALDH2
Human Genome Epidemiology (HuGE) Navigator
ALDH2
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. Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis. (PMID: 11117576) Kimura S. … Kasuga M. (Dig. Dis. Sci. 2000) 3 23 48
  2. Relationships between cigarette smoking, alcohol drinking, the ALDH2 genotype and adenomatous types of colorectal polyps in male self-defense force officials. (PMID: 11210104) Takeshita T. … Kono S. (J Epidemiol 2000) 3 23 48
  3. Alcohol and aldehyde dehydrogenase gene polymorphisms and oropharyngolaryngeal, esophageal and stomach cancers in Japanese alcoholics. (PMID: 11238183) Yokoyama A. … Ishii H. (Carcinogenesis 2001) 3 23 48
  4. Gene-environment interaction between an aldehyde dehydrogenase-2 (ALDH2) polymorphism and alcohol consumption for the risk of esophageal cancer. (PMID: 11375898) Matsuo K. … Tajima K. (Carcinogenesis 2001) 3 23 48
  5. Association of the ADH2 genotypes with skin responses after ethanol exposure in Japanese male university students. (PMID: 11584144) Takeshita T. … Morimoto K. (Alcohol. Clin. Exp. Res. 2001) 3 23 48

Products for ALDH2 Gene

Sources for ALDH2 Gene

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