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ALDH2 Gene(Protein Coding)

Aldehyde Dehydrogenase 2 Family (Mitochondrial)

GCID:
GC12P111766
GIFtS:
74
Genes Participants
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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 1.2.1.3 4 63
  • ALDH-E2 3 4
  • ALDHI 3 4
  • ALDM 3 4
  • Nucleus-Encoded Mitochondrial Aldehyde Dehydrogenase 2 3
  • Acetaldehyde Dehydrogenase 2 3
  • Liver Mitochondrial ALDH 3
  • EC 1.2.1 63

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 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 alcohol dependence. Among its related pathways are Arginine and proline metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) 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.

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

Products:

  1. Regulatory Element

Regulatory Elements for ALDH2 Gene

Enhancers for ALDH2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ALDH2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ALDH2 gene promoter:

Genomic Location for ALDH2 Gene

Chromosome:
12
Start:
111,766,887 bp from pter
End:
111,817,529 bp from pter
Size:
50,643 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ALDH2 Gene

Proteins for ALDH2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ALDH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALDH2 Gene

P05091:

Post-translational modifications for ALDH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for ALDH2 Gene

Gene Families for ALDH2 Gene

HGNC:

Protein Domains for ALDH2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05091

UniProtKB/Swiss-Prot:

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

Function for ALDH2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0004030 aldehyde dehydrogenase [NAD(P)+] activity TAS 8903321
genes like me logo Genes that share ontologies with ALDH2: view

Phenotypes for ALDH2 Gene

MGI mutant phenotypes for ALDH2:
inferred from 4 alleles
GenomeRNAi human phenotypes for ALDH2:
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

miRNA for ALDH2 Gene

miRTarBase miRNAs that target ALDH2

Inhibitory RNA 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

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

No data available for Gene Ontology (GO) - Cellular Components 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:0006066 alcohol metabolic process TAS 1306115
GO:0008152 metabolic process IEA --
GO:0042136 neurotransmitter biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
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

Products:

  1. Drug

(41) Drugs for ALDH2 Gene - From: DrugBank, ClinicalTrials, 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 34
Nitroglycerin Approved, Investigational Pharma Enzyme, substrate 144
Amyl Nitrite Approved Pharma Enzyme, substrate 1
Guanidine Approved Pharma Target 0
Ethanol Approved Pharma 1924

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(E)-2-Butenal
  • (2E)-2-Butenal
  • (2E)-but-2-enal
  • (2Z)-2-Butenal
  • (cis)-crotonaldehyde
  • (E)-2-Butenal
 123-73-9
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
 99043-16-0
2,5-Dioxopentanoate
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
 6236-08-4
2-Propyn-1-al

(4) Tocris Compounds for ALDH2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator; cardioprotective 349438-38-6
CVT 10216 Potent and selective ALDH2 inhibitor 1005334-57-5
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
WIN 18446 ALDH1a2 inhibitor 1477-57-2
genes like me logo Genes that share compounds with ALDH2: view

Transcripts for ALDH2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ALDH2 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(651) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALDH2 Gene

Aldehyde dehydrogenase 2 family (mitochondrial):
Representative Sequences:

Inhibitory RNA 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
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

Products:

  1. Primer

mRNA expression in normal human tissues for ALDH2 Gene

mRNA expression in normal human tissues for ALDH2 Gene
mRNA expression by BioGPS for ALDH2 GenemRNA expression by GTEx 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, MOPED, and MaxQB for ALDH2 Gene



SOURCE GeneReport for Unigene cluster for ALDH2 Gene Hs.604551

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

Protein tissue co-expression partners for ALDH2 Gene

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
cow
(Bos Taurus)
 Mammalia ALDH2 35
  • 89.5 (n)
  • 94.09 (a)
ALDH2 36
  • 93 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ALDH2 35
  • 88.87 (n)
  • 94.6 (a)
-- 36
  • 93 (a)
 ManyToMany
-- 36
  • 83 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Aldh2 35
  • 86.82 (n)
  • 95.54 (a)
Aldh2 16
Aldh2 36
  • 95 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia ALDH2 35
  • 99.69 (n)
  • 100 (a)
rat
(Rattus norvegicus)
 Mammalia Aldh2 35
  • 88.24 (n)
  • 96.12 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 91 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 88 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves ALDH2 35
  • 76.55 (n)
  • 85.85 (a)
-- 36
  • 84 (a)
 OneToMany
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
fruit fly
(Drosophila melanogaster)
 Insecta CG3752 37
  • 68 (a)
Aldh 35
  • 68.27 (n)
  • 71.54 (a)
Aldh 36
  • 70 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003652 35
  • 67.59 (n)
  • 69.98 (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)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C07777g 35
  • 52.1 (n)
  • 50.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ALD5 35
  • 52.01 (n)
  • 47.52 (a)
ALD5 38
thale cress
(Arabidopsis thaliana)
 eudicotyledons ALDH2B4 35
  • 58.88 (n)
  • 61.88 (a)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.10427 35
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)
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

Paralogs for ALDH2 Gene

(13) SIMAP similar genes for ALDH2 Gene using alignment to 8 proteins:

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
rs671 - 111,803,962(+) ACACT(A/G)AAGTG reference, missense
VAR_011302 -
rs1062136 - 111,792,709(+) TGTGG(A/T)GCGGA reference, missense
rs440 -- 111,790,910(+) TCAGC(C/T)GGGTG intron-variant
rs441 -- 111,791,045(+) CTCGG(C/T)CTCAA 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

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

HapMap Linkage Disequilibrium report
ALDH2
Human Gene Mutation Database (HGMD)
ALDH2

Disorders for ALDH2 Gene

MalaCards: The human disease database

(16) 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
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)
ALDH2
Human Genome Epidemiology (HuGE) Navigator
ALDH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. (PMID: 2987944) Hsu L.C. … Yoshida A. (Proc. Natl. Acad. Sci. U.S.A. 1985) 2 3 4 67
  2. Aldehyde dehydrogenase 2 plays a role in the bioactivation of nitroglycerin in humans. (PMID: 16051882) Mackenzie I.S. … Wilkinson I.B. (Arterioscler. Thromb. Vasc. Biol. 2005) 23 25 26
  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 23
  4. Characterization of the East Asian variant of aldehyde dehydrogenase-2: bioactivation of nitroglycerin and effects of Alda-1. (PMID: 19906643) Beretta M. … Mayer B. (J. Biol. Chem. 2010) 3 23
  5. Absence of association on aldehyde dehydrogenase 2 (ALDH2) polymorphism with Mongolian Alzheimer patients. (PMID: 19914339) Zhou S. … Ma X. (Neurosci. Lett. 2010) 3 23

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