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    ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) [ Homo sapiens (human) ]

    Gene ID: 217, updated on 11-Sep-2016
    Official Symbol
    ALDH2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 2 family (mitochondrial)provided by HGNC
    Primary source
    HGNC:HGNC:404
    See related
    Ensembl:ENSG00000111275 HPRD:00003; MIM:100650; Vega:OTTHUMG00000169603
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALDM; ALDHI; ALDH-E2
    Summary
    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]
    Orthologs
    Location:
    12q24.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (111766887..111809985)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112204691..112247789)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRCA1 associated protein Neighboring gene PEST containing nuclear protein pseudogene 1 Neighboring gene acyl-CoA dehydrogenase family member 10 Neighboring gene microRNA 6761 Neighboring gene MAPKAPK5 antisense RNA 1 Neighboring gene mitogen-activated protein kinase-activated protein kinase 5 Neighboring gene ribosomal protein S2 pseudogene 41

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Acute alcohol sensitivity
    MedGen: C2674838 OMIM: 610251 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
    NHGRI GWA Catalog
    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    NHGRI GWA Catalog
    A genome-wide association study of a coronary artery disease risk variant.
    NHGRI GWA Catalog
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    NHGRI GWA Catalog
    ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.
    NHGRI GWA Catalog
    Common variants at 12q24 are associated with drinking behavior in Han Chinese.
    NHGRI GWA Catalog
    Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.
    NHGRI GWA Catalog
    Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
    NHGRI GWA Catalog
    Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
    NHGRI GWA Catalog
    Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
    NHGRI GWA Catalog
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    NHGRI GWA Catalog
    Genome-wide association study of coronary artery disease in the Japanese.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: ACAD10

    Homology

    Clone Names

    • MGC1806

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aldehyde dehydrogenase (NAD) activity EXP
    Inferred from Experiment
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aldehyde dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
    PubMed 
    electron carrier activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    alcohol metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    ethanol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    ethanol oxidation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    aldehyde dehydrogenase, mitochondrial
    Names
    ALDH class 2
    acetaldehyde dehydrogenase 2
    liver mitochondrial ALDH
    nucleus-encoded mitochondrial aldehyde dehydrogenase 2
    NP_000681.2
    NP_001191818.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012250.1 RefSeqGene

      Range
      5346..48444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000690.3NP_000681.2  aldehyde dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000681.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC002967, CB851683, DC353712
      Consensus CDS
      CCDS9155.1
      UniProtKB/Swiss-Prot
      P05091
      Related
      ENSP00000261733, OTTHUMP00000241662, ENST00000261733, OTTHUMT00000405008
      Conserved Domains (2) summary
      cd07141
      Location:31511
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
      PLN02466
      Location:3516
      PLN02466; aldehyde dehydrogenase family 2 member
    2. NM_001204889.1NP_001191818.1  aldehyde dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK301375, BC002967, CB851683, DC353712
      Consensus CDS
      CCDS55885.1
      UniProtKB/Swiss-Prot
      P05091
      Related
      ENSP00000403349, OTTHUMP00000241661, ENST00000416293, OTTHUMT00000405007
      Conserved Domains (2) summary
      cd07141
      Location:31464
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
      PLN02466
      Location:3469
      PLN02466; aldehyde dehydrogenase family 2 member

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      111766887..111809985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      112172628..112215725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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