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ALDH2 Gene

protein-coding   GIFtS: 74
GCID: GC12P112205

Aldehyde Dehydrogenase 2 Family (Mitochondrial)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aldehyde Dehydrogenase 2 Family (Mitochondrial)1 2     Acetaldehyde Dehydrogenase 22
ALDH-E22 3     Aldehyde Dehydrogenase, Mitochondrial2
ALDHI2 3     Liver Mitochondrial ALDH2
ALDM2 3     Nucleus-Encoded Mitochondrial Aldehyde Dehydrogenase 22
ALDH Class 22 3     EC 1.2.18
EC 1.2.1.33 8     

External Ids:    HGNC: 4041   Entrez Gene: 2172   Ensembl: ENSG000001112757   OMIM: 1006505   UniProtKB: P050913   

Export aliases for ALDH2 gene to outside databases

Previous GC identifers: GC12P111101 GC12P111726 GC12P111987 GC12P110616 GC12P110667 GC12P109217


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 sublingual nitroglycerin poor response to, and esophageal cancer, alcohol-related. GO annotations related to this gene include electron carrier activity and aldehyde dehydrogenase [NAD(P)+] activity. An important paralog of this gene is ALDH1L2.

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH2 gene promoter:
         PPAR-alpha   PPAR-gamma1   Sp1   p53   FOXJ2 (long isoform)   FOXJ2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ALDH2 promoter sequence
   Search Chromatin IP Primers for ALDH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.2   Ensembl cytogenetic band:  12q24.12   HGNC cytogenetic band: 12q24.12

ALDH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P112205:  view genomic region     (about GC identifiers)

Start:
112,204,691 bp from pter      End:
112,247,789 bp from pter
Size:
43,099 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase, mitochondrial precursor  
Size: 517 amino acids; 56381 Da
Subunit: Homotetramer
Sequence caution: Sequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Sequence=CAA68290.1;
Type=Frameshift; Positions=Several; Sequence=CAA68290.1; Type=Miscellaneous discrepancy;
Selected PDB 3D structures from and Proteopedia for ALDH2 (see all 24):
1CW3 (3D)        1NZW (3D)        1NZX (3D)        1NZZ (3D)        1O00 (3D)        1O01 (3D)    
Secondary accessions: B4DW54 E7EUE5 Q03639 Q6IB13 Q6IV71
Alternative splicing: 2 isoforms:  P05091-1   P05091-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH2: NX_P05091

Explore proteomics data for ALDH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH2 (P05091) (see all 36)
     TLELGGK  WKLGPAL  AGSRTFV  VTLELGG 


    See ALDH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000681.2  NP_001191818.1  

    ENSEMBL proteins: 
     ENSP00000403349   ENSP00000261733   ENSP00000448179   ENSP00000474669  
    Reactome Protein details: P05091

    ALDH2 Human Recombinant Protein Products:

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    Novus Biologicals ALDH2 Proteins
    Novus Biologicals ALDH2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ALDH2
    Browse Proteins at Cloud-Clone Corp.

    ALDH2 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ALDH: Aldehyde dehydrogenases

    5 InterPro protein domains:
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry P05091

    ProtoNet protein and cluster: P05091

    2 Blocks protein domains:
    IPB001484 Pyrokinin
    IPB002086 Aldehyde dehydrogenase


    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALDH2_HUMAN, P05091
    Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH

         Genatlas biochemistry entry for ALDH2:
    aldehyde dehydrogenase 2,mitochondrial,E2 isoform

         Enzyme Numbers (IUBMB): EC 1.2.1.31 2 EC 1.2.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004029aldehyde dehydrogenase (NAD) activity EXP--
    GO:0004030aldehyde dehydrogenase [NAD(P)+] activity TAS8903321
    GO:0009055electron carrier activity TAS8903321
    GO:0016491oxidoreductase activity ----
         
    ALDH2 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aldh2):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 
     other  reproductive system  skeleton  tumorigenesis  vision/eye 

    ALDH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aldh2tm1Kaw for ALDH2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH2

    miRNA
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    miRTarBase miRNAs that target ALDH2:
    hsa-mir-615-3p (MIRT039939), hsa-mir-16-5p (MIRT031438), hsa-mir-1 (MIRT023536), hsa-mir-335-5p (MIRT016754)

    Block miRNA regulation of human, mouse, rat ALDH2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALDH2
    SwitchGear 3'UTR luciferase reporter plasmidALDH2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALDH2
    Predesigned siRNA for gene silencing in human, mouse, rat ALDH2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ALDH2

    Clone
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    OriGene clones in human, mouse for ALDH2 (see all 7)
    OriGene ORF clones in mouse, rat for ALDH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ALDH2 (NM_000690)
    Sino Biological Human cDNA Clone for ALDH2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ALDH2
    Browse ESI BIO Cell Lines and PureStem Progenitors for ALDH2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALDH2_HUMAN, P05091: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    ALDH2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH2 About   (see all 22)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.75
    Fatty Acid Omega Oxidation0.00
    Ethanol oxidation0.00
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4beta-Alanine metabolism
    beta-Alanine metabolism
    phenylethylamine degradation I0.00
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neurotransmitter Clearance In The Synaptic Cleft0.00
    Neuronal System0.68

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALDH2
        Retinol metabolism

    Selected BioSystems Pathways for ALDH2 (see all 13)
        oxidative ethanol degradation III
    ethanol degradation II
    ethanol degradation IV
    serotonin degradation
    noradrenaline and adrenaline degradation


    2 Reactome Pathways for ALDH2
        Metabolism of serotonin
    Ethanol oxidation

    2 PharmGKB Pathways for ALDH2
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ALDH2) (see all 14):
        Glycolysis / Gluconeogenesis
    Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Fatty acid degradation
    Valine, leucine and isoleucine degradation

    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2


    ALDH2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH2: 

              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Stem Cells in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDH2 (P050912, 3 ENSP000002617334) via UniProtKB, MINT, STRING, and/or I2D (see all 331)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-63389 I2D: score=5 
    SLC35F6Q8N3572, 3MINT-63388 I2D: score=5 
    UNC119Q134322, 3MINT-63385 I2D: score=5 
    CRMP1Q141942, 3MINT-63386 I2D: score=4 
    IGSF21Q96ID52, 3MINT-63387 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS8903321
    GO:0006066alcohol metabolic process TAS1306115
    GO:0006068ethanol catabolic process IEA--
    GO:0006069ethanol oxidation TAS--
    GO:0006805xenobiotic metabolic process TAS--

    ALDH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ALDH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    WIN 18446ALDH1a2 inhibitor[1477-57-2]
    Alda 1ALDH2 activator; cardioprotective[349438-38-6]

    Selected HMDB Compounds for ALDH2 (see all 43)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    2-Propyn-1-al ----
    20-Oxo-leukotriene E420-oxo-LTE(,4) (see all 3)----
    20-oxo-leukotriene B420-carboxyleukotriene B4 ----
    3-Aminopropionaldehyde3-Aminopropanal (see all 3)352-92-1--
    3-Butyn-1-al 52844-23-2--
    3a,7a-Dihydroxy-5b-cholestan-26-al3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol ----
    3a,7a-Dihydroxycoprostanic acid3a,7a-Dihydroxy-5b-cholestan-26-oate (see all 14)17974-66-2--
    4-Acetamidobutanoic acidN-Acetyl-4-aminobutanoate (see all 11)3025-96-5--

    10 DrugBank Compounds for ALDH2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Daidzin4',7-Dihydroxyisoflavone (see all 8)552-66-9target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Crotonaldehyde-- --target--17139284 17016423
    DisulfiramDisulfuram (see all 16)97-77-8targetinhibitor17220694 16051882
    GuanidineAminomethanamidine (see all 9)113-00-8target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17488809 16961761
    Amyl NitriteAmyl nitrosum (see all 6)110-46-3enzymesubstrate20543077
    Benzyl alcohol(Hydroxymethyl)benzene (see all 10)100-51-6enzymesubstrate7645026
    Nitric Oxide-- 10102-43-9enzymeinhibitor16242127
    NitroglycerinGlyceryl trinitrate (see all 7)55-63-0enzymesubstrate20543077

    Selected Novoseek inferred chemical compound relationships for ALDH2 gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetaldehyde 93.7 268 16365683 (5), 18616675 (4), 16403513 (4), 14722101 (4) (see all 99)
    daidzin 75.3 28 8433985 (3), 11563931 (3), 9050837 (3), 18613661 (3) (see all 9)
    ethanol 75.2 116 19144977 (4), 16316071 (3), 10826103 (3), 8512495 (3) (see all 58)
    propionaldehyde 67.3 2 15703303 (1), 17655326 (1)
    nitroglycerin 63.4 83 17585900 (5), 16051882 (5), 18272654 (3), 16440063 (3) (see all 21)
    retinaldehyde 62 1 10559215 (1)
    aldophosphamide 61.2 2 1610409 (2)
    rsai 58.1 2 15318112 (1), 11696658 (1)
    disulfiram 56.1 8 17980785 (2), 9605433 (2), 9354647 (2), 16051882 (1) (see all 5)
    betaine aldehyde 54.7 1 1527093 (1)



    ALDH2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALDH2 gene (2 alternative transcripts): 
    NM_000690.3  NM_001204889.1  

    Unigene Cluster for ALDH2:

    Aldehyde dehydrogenase 2 family (mitochondrial)
    Hs.604551  [show with all ESTs]
    Unigene Representative Sequence: NM_000690
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416293 ENST00000261733(uc001tst.3 uc010syi.2) ENST00000548536
    ENST00000549106

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    GenScript: all cDNA clones in your preferred vector (see all 2): ALDH2 (NM_000690)
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      QuantiFast Probe-based Assays in human, mouse, rat ALDH2

    Additional mRNA sequence: 

    AK223373.1 AK301375.1 AK314856.1 AY621070.1 BC002967.1 BC071839.1 CR456991.1 K03001.1 
    M26760.1 M54931.1 S80262.1 X05409.1 Y00109.1 

    24 DOTS entries:

    DT.100825560  DT.219231  DT.100825566  DT.100825563  DT.100030509  DT.100825574  DT.92458180  DT.95159151 
    DT.100825577  DT.121177828  DT.92458189  DT.95159142  DT.95159145  DT.100825568  DT.121177818  DT.121177839 
    DT.92458178  DT.95159116  DT.100825562  DT.121177767  DT.121177793  DT.95159148  DT.92018440  DT.92458173 

    Selected AceView cDNA sequences (see all 651):

    BC015056 BG696274 AI056873 AI460073 AA969786 AW188884 AV650553 AI186384 
    AA419072 T08954 AA243179 BI834562 BQ631709 BP871792 CA424936 BG056829 
    BM765982 CR617194 AI632521 BM784372 BM664828 BU151478 BU849300 BQ362166 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH2    About this scheme

    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:                                                                                            -                           


    ECgene alternative splicing isoforms for ALDH2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALDH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGGTTGGC
    ALDH2 Expression
    About this image


    ALDH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     NULL (Uncategorized)
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ALDH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.604551
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Stem Cells in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat ALDH2
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh21 , 5 aldehyde dehydrogenase 2, mitochondrial1, 5 86.82(n)1
    95.54(a)1
      5 (61.86 cM)5
    116691  NM_009656.31  NP_033786.11 
     1215660275 
    chicken
    (Gallus gallus)
    Aves ALDH21 aldehyde dehydrogenase 2 family (mitochondrial) 76.55(n)
    85.85(a)
      416880  XM_415171.4  XP_415171.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    81(a)
    1 → many
    GL343282.1(19269-33915)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldh21 aldehyde dehydrogenase 2 family (mitochondrial) 72.81(n)
    83(a)
      448267  NM_001004907.1  NP_001004907.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY398308.12   -- 76.43(n)    AY398308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523
    Aldh1
    aldehyde dehydrogenase (NAD+)3
    Aldehyde dehydrogenase1
    68(a)3
    68.27(n)1
    71.54(a)1
      30B33
    342561  NM_135441.21  NP_609285.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-11 alh-1 61.75(n)
    67.91(a)
      175691  NM_065680.5  NP_498081.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD5(YER073W)4
    ALD51
    Mitochondrial aldehyde dehydrogenase, involved in regulation or biosynthesis of electron transport chain components and acetate formation; activated by K+; utilizes NADP+ as the preferred coenzyme; constitutively expressed less4
    ALD51
    52.01(n)1
    47.52(a)1
      5(304030-305592)4
    8568041, 4  NP_010996.21  NP_010996.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2B41 ALDH2B4 58.88(n)
    61.88(a)
      823955  NM_114669.3  NP_190383.1 
    corn
    (Zea mays)
    Liliopsida AY106673.12   -- 73.81(n)    AY106673.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH2 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH6A12  ALDH8A12  
    ALDH9A12  ALDH1A32  ALDH1L12  
    13 SIMAP similar genes for ALDH2 using alignment to 8 protein entries:     ALDH2_HUMAN (see all proteins):
    ALDH1A2    ALDH1A1    ALDH1B1    ALDH1A3    DKFZp686G1675    ALDH1L1
    ALDH9A1    ALDH1L2    ALDH8A1    ALDH5A1    ALDH6A1    ALDH7A1
    ALDH3A1

    ALDH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ALDH2_HUMAN, P05091: 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


    Selected SNPs for ALDH2 (see all 840)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6711,2,,4
    C,F,Hdrug-response1112037845(+) ACACTG/AAAGTG 4 /K /E mis1 ese326Minor allele frequency- A:0.12MN CA NS EA NA 2426
    rs557371281,2
    C,F--111998816(+) GCCTCA/GCCTTC 2 -- us2k12Minor allele frequency- G:0.09WA 120
    rs1496537531,2
    --111998866(+) CTAAT-/TGTG  
            
    TGTGT
    2 -- us2k10--------
    rs608794781,2
    C--111998867(+) TAATT-/G/GTGTGTGT
    GTGTGTGTGTGTG
    TGTGT
    4 -- us2k1 cds10--------
    rs1432594941,2
    --111998962(+) GGTCTC/TGAACT 2 -- us2k10--------
    rs1889461871,2
    --111998987(+) ATCTAA/CCCGCC 2 -- us2k10--------
    rs1475133281,2
    --111998990(+) TACCCA/GCCTCA 2 -- us2k10--------
    rs1930564811,2
    --111999047(+) AGCCTA/CATTTC 2 -- us2k10--------
    rs1850420171,2
    --111999278(+) TGGCAC/TGGTGG 2 -- us2k10--------
    rs1882502571,2
    --111999335(+) CACCTA/GAGGTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALDH2 (112204691 - 112247789 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALDH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv515716CNV Gain19592680
    nsv470317CNV Gain18288195
    dgv1492n71CNV Gain21882294
    nsv455715CNV Gain19166990

    Human Gene Mutation Database (HGMD): ALDH2
    Locus Specific Mutation Databases (LSDB): ALDH2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH2
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100650   
    OMIM disorders: 610251  
    91 diseases for ALDH2 (see first 20):    
    About MalaCards
    sublingual nitroglycerin poor response to    esophageal cancer, alcohol-related    hangover    alcohol sensitivity, acute
    alcoholic neuropathy    alcoholic liver cirrhosis    alcoholic cardiomyopathy    oral cavity cancer
    alcohol abuse    fetal alcohol syndrome    gout    esophageal squamous cell carcinoma
    alcohol dependence    antisocial personality disorder    liver cirrhosis    atrophic gastritis
    retinopathy of prematurity    stomach cancer    cardiovascular disease risk factor    gastroduodenitis
    esophageal cancer    alcoholic pancreatitis    alcoholic hepatitis    personality disorder
    heroin dependence    conduct disorder    osteonecrosis    bipolar i disorder
    substance abuse    liver disease    pharyngitis    acute pancreatitis
    eating disorder    gastritis    esophagitis    patent ductus arteriosus
    malignant pleural mesothelioma    congestive heart failure    intracranial aneurysm    attention deficit hyperactivity disorder
    polyneuropathy    synovitis    squamous cell carcinoma of the head and neck    was-related disorders
    type 1 diabetes mellitus    pancreatitis    diabetes mellitus    colorectal cancer
    hepatocellular carcinoma    migraine    type 1 diabetes    squamous cell carcinoma
    duodenitis    neuropathy    parkinson's disease    hepatitis b
    dementia    essential hypertension    coronary heart disease    osteoporosis
    hepatitis    hypertension    lung cancer susceptibility    alzheimer's disease
    myocardial infarction    coronary artery disease    periodontitis    asthma
    blindness    inflammatory bowel disease    dermatitis    hepatitis c virus
    atherosclerosis    pancreatic cancer    hepatitis c    lung cancer
    obesity    breast cancer    adenoma    schizophrenia
    sarcoma    tuberculosis    leukemia    endotheliitis
    adenocarcinoma    prostatitis    neuronitis    myeloma
    multiple myeloma    prostate cancer    malaria

    5 diseases from the University of Copenhagen DISEASES database for ALDH2:
    Alcohol dependence     Esophageal cancer     Substance abuse     Liver disease
    Squamous cell carcinoma

    ALDH2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ALDH2 gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alcoholism 83.4 127 7625477 (5), 10803776 (4), 1492799 (4), 7573775 (3) (see all 59)
    liver diseases alcoholic 66.3 20 11410736 (5), 15519646 (2), 8986242 (1), 8591846 (1) (see all 10)
    pancreatitis alcoholic 60.7 7 11117576 (2), 8985275 (1), 8986224 (1), 10235286 (1) (see all 5)
    alcohol abuse 56.6 2 19251111 (1)
    alcoholic cirrhosis 54.8 7 12824748 (1), 15220553 (1), 8845660 (1), 11748356 (1) (see all 5)
    alcoholic neuropathy 52.6 3 15182962 (2), 15542751 (1)
    macrocytosis 51.1 2 16759795 (1), 17295873 (1)
    smoking habit 47.2 9 15714130 (3), 18216179 (2), 8903472 (2), 17207821 (1)
    carcinoma squamous cell 43.5 18 16759795 (2), 16639733 (2), 16499490 (2), 18322963 (2) (see all 12)
    genetic susceptibility 41.6 1 19449376 (1)

    Genatlas disease: ALDH2
    facial flushing reaction to alcohol

    Genetic Association Database (GAD): ALDH2
    Human Genome Epidemiology (HuGE) Navigator: ALDH2 (303 documents)

    Export disorders for ALDH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALDH2 gene, integrated from 10 sources (see all 699):
    (articles sorted by number of sources associating them with ALDH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. (PubMed id 2987944)1, 2, 3 Hsu L.C.... Yoshida A. (Proc. Natl. Acad. Sci. U.S.A. 1985)
    2. Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. (PubMed id 4015823)1, 2, 3 Yoshida A.... Tani K. (Alcohol 1985)
    3. Meta-analysis of three diabetes population studies: association of inactive ALDH2 genotype with maternal inheritance of diabetes. (PubMed id 15563966)1, 4, 9 Murata C....Suzuki Y. (Diabetes Res. Clin. Pract. 2004)
    4. Association between personality traits and ALDH2 polymorphism in Japanese male alcoholics. (PubMed id 19298328)1, 4, 9 Kimura M....Kashima H. (Alcohol. Clin. Exp. Res. 2009)
    5. Genetic association between aldehyde dehydrogenase 2 (ALDH2) variation and high-density lipoprotein cholesterol (HDL-C) among non-drinkers in two large population samples in Japan. (PubMed id 18776700)1, 4, 9 Wada M....Kato T. (J. Atheroscler. Thromb. 2008)
    6. Aldehyde dehydrogenase-2 genotypes and HLA haplotypes in Japanese patients with esophageal cancer. (PubMed id 12168074)1, 4, 9 Watanabe S....Kuriyama S. (Oncol. Rep. 2002)
    7. Salivary acetaldehyde concentration according to alcoholic beverage consumed and aldehyde dehydrogenase-2 genotype. (PubMed id 18616675)1, 4, 9 Yokoyama A....Yokoyama T. (Alcohol. Clin. Exp. Res. 2008)
    8. Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association with elevated liver enzymes and metabolic syndrome. (PubMed id 14506613)1, 4, 9 Murata C....Okazaki I. (Metab. Clin. Exp. 2003)
    9. Genetic polymorphisms in cytochrome P4502E1, alcohol and aldehyde dehydrogenases and the risk of esophageal squamous cell carcinoma in Gansu Chinese males. (PubMed id 18322963)1, 4, 9 Guo Y.M....Guo Q.H. (World J. Gastroenterol. 2008)
    10. Interactive effects of lifetime alcohol consumption and alcohol and aldehyde dehydrogenase polymorphisms on esophageal cancer risks. (PubMed id 17036331)1, 4, 9 Chen Y.J....Wu M.T. (Int. J. Cancer 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 217 HGNC: 404 AceView: ALDH2andACAD10 Ensembl:ENSG00000111275 euGenes: HUgn217
    ECgene: ALDH2 Kegg: 217 H-InvDB: ALDH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALDH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDH2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH2 gene:
    Search GeneIP for patents involving ALDH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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