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FLASH GENE
Symbol ALDH2 contributors: mct/npt - updated : 29-06-2010
HGNC name aldehyde dehydrogenase 2 family (mitochondrial)
HGNC id 404
Location 12q24.12      Physical location : 112.204.345 - 112.247.782
Synonym name
  • ALDH class 2
  • liver mitochondrial ALDH
  • acetaldehyde dehydrogenase 2
  • Synonym symbol(s) ALDM, DHAM, ALDH-E2, ALDHI, MGC1806
    EC.number 1.2.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 43.44 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D12S2070 - D12S839 - D12S821 - D12S1344 - ALDH2 - D12S2263 - D12S1341 - qter
    Authors Koch (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2445 54.44 517 - Yoshida (1992)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Aldh2
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • oxidation of acetaldehyde, putative modifier of the effects of alcohol intake on liver function
  • a key enzyme involved in cytoprotection in the heart (Budas 2009)
  • key mediator of endogenous survival signaling in the heart (suggest possible cardioprotective mechanisms mediated by ALDH2 and discuss potential clinical implications of these findings) (Budas 2009
  • metabolizes toxic biogenic and environmental aldehydes, including the endogenously produced 4-hydroxynonenal (4HNE) and the environmental pollutant acrolein, and also bioactivates nitroglycerin (Perez-Miller 2010)
  • having a role in ethanol metabolism (Perez-Miller 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol , carbohydrate , other
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource Human Polymorphisms of ALDH Genes
    Susceptibility
  • to alcoholism when associated with ADA2 polymorphism
  • to myocardial infarction
  • to esophageal cancer in heavy drinking patients
  • to alcohol-induced flushing
  • to genotoxicity induced by alcohol drinking
  • to esophageal squamous cell carcinoma (ESCC)
  • Variant & Polymorphism SNP , other
  • GLU 487 LYS increased risk of esophageal cancer in heavy drinking patients
  • SNP rs671, alcohol drinking, and smoking are independent risk factors for ESCC (Cui 2009)
  • associations between ADH1B/ALDH2 polymorphisms and genotoxicity in alcohol drinkers (Ishikawa 2007)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS