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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)
    Physical map
    MGC14560 12q24.13 protein x 0004 HSU79274 12q24.13 protein predicted by clone 23733 VPS29 12q24 vacuolar protein sorting 29 (yeast) RAD9B 12q24.13 RAD9 homolog B (S. cerevisiae) TA-PP2C 12q24.13 T-cell activation protein phosphatase 2C FLJ21127 12q24.13 hypothetical protein FLJ21127 MGC15619 12q24.13 hypothetical protein MGC15619 PPP1CC 12q24.1 protein phosphatase 1, catalytic subunit, gamma isoform FLJ35843 12q24.13 hypothetical protein FLJ35843 MYL2 12q23-q24.3 myosin, light polypeptide 2, regulatory, cardiac, slow CUTL2 12q24.12 cut-like 2 (Drosophila) FLJ32356 12q24.13 hypothetical protein FLJ32356 LNK 12q24 hypothetical protein FLJ32356 SCA2 12q24.1 spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) BRAP 12q24 BRCA1 associated protein MGC5601 12q24.13 hypothetical protein MGC5601 ALDH2 12q24.2 aldehyde dehydrogenase 2 family (mitochondrial) FLJ39616 12q24.13 apoptosis-related protein PNAS-1 MAPKAPK5 12q24.12 mitogen-activated protein kinase-activated protein kinase 5 ADAM1 12q24.13 a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene LOC89894 12q24.13 hypothetical protein BC000282 C12orf8 12q24.13 chromosome 12 open reading frame 8 FLJ13089 12q24.13 hypothetical protein FLJ13089 FLN29 12q FLN29 gene product FLJ30092 12q24.13 AF-1 specific protein phosphatase FLJ34154 12q24.13 hypothetical protein FLJ34154 RPL6 12q23-q24.1 ribosomal protein L6 PTPN11 12q24.1 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) RPH3A 12q24.11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) OAS1 12q24.2 2',5'-oligoadenylate synthetase 1, 40/46kDa OAS3 12q24.1 2'-5'-oligoadenylate synthetase 3, 100kDa OAS2 12q24.2 2'-5'-oligoadenylate synthetase 2, 69/71kDa
    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