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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH2 Gene

protein-coding   GIFtS: 73
GCID: GC12P112205

aldehyde dehydrogenase 2 family (mitochondrial)
 Explore 87 diseases affiliated with
ALDH2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDH2    

Aliases
for ALDH2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for ALDH2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALDH2:
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)

summary for ALDH2:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 112,204,346 bp from pter      End:
 112,247,784 bp from pter
Size:
 43,439 bases      Orientation:
 plus strand

Proteins
for ALDH2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase, mitochondrial precursor  
Size: 517 amino acids; 56381 Da
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
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;
6/24 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: Q03639 Q6IB13 Q6IV71

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05091

    • 4/36 DME Specific Peptides for ALDH2 (P05091) (see all 36)
     TLELGGK  WKLGPAL  AGSRTFV  VTLELGG 

    ALDH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000403349   ENSP00000261733   ENSP00000448839   ENSP00000448179   ENSP00000447231  
    Reactome Protein details: P05091
    Human Recombinant Protein Products: 
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    Novus Biologicals ALDH2 Proteins
    Novus Biologicals ALDH2 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ALDH2
    Uscn Proteins for ALDH2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix TAS--


    ALDH2 for ontologies           About GeneDecksing



    ALDH2 Antibody Products: 
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    ThermoFisher Antibodies for ALDH2

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    Uscn ELISAs and CLIAs for ALDH2

    Protein Domains /
    Families
    for ALDH2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALDH2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     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 families:
    IPB001484 Pyrokinin
    IPB002086 Aldehyde dehydrogenase


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


    Function
    for ALDH2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ALDH2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALDH2 (see all 7)
    OriGene shRNA RFP: ALDH2
    OriGene siRNA: ALDH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ALDH2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH2 (see all 3)
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    GenScript: all cDNA clones in your preferred vector (see all 2): ALDH2 (NM_000690)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH2 

    Cell Line
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    Search LifeMap BioReagents cell lines for ALDH2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH2

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----


    ALDH2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Aldh2tm1Kaw for ALDH2
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Aldh2):
     behavior/neurological  cellular  homeostasis/metabolism  integument  skeleton 

    ALDH2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALDH2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Monoamines are oxidized to aldehydes by MAOA and MAOB, producing NH3 and H2O2
    		Serotonin clearance from the synaptic cleft0.33
    		putrescine degradation III0.20
    		Metabolism of serotonin0.33
    		Ifosfamide Pathway, Pharmacodynamics0.00
    		phenylalanine degradation IV (mammalian, via side chain)0.29
    2Ethanol oxidation
    		Ethanol oxidation1.00
    		Cyclophosphamide Pathway, Pharmacodynamics0.42
    		Fatty Acid Omega Oxidation0.47
    3ethanol degradation II
    		ethanol degradation II1.00
    		ethanol degradation IV0.57
    		oxidative ethanol degradation III0.57
    4Retinol metabolism
    		Retinol metabolism1.00
    		Retinol metabolism0.95
    5Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ALDH2
        Retinol metabolism


    1 GeneGo (Thomson Reuters) Pathway for ALDH2
        Retinol metabolism

    5/10 BioSystems Pathways for ALDH2 (see all 10) 
        phenylalanine degradation IV (mammalian, via side chain)
    ethanol degradation IV
    serotonin degradation
    putrescine degradation III
    ethanol degradation II

    5/9        Reactome Pathways for ALDH2 (see all 9)
        Metabolism of serotonin
    Serotonin clearance from the synaptic cleft
    Transmission across Chemical Synapses
    Metabolism
    Neuronal System

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

    5/14         Kegg Pathways  (Kegg details for ALDH2) (see all 14):
        Glycolysis / Gluconeogenesis
    Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Fatty acid metabolism
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH2

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

    5/305 Interacting proteins for ALDH2 (P050912, 3 ENSP000002617334) via UniProtKB, MINT, STRING, and/or I2D (see all 305)

    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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



    Drugs & Compounds
    for ALDH2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ALDH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DisulfiramAldehyde dehydrogenase inhibitor; displays a range of other activities[97-77-8]
    Alda 1ALDH2 activator; cardioprotective[349438-38-6]

    10/43 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--

    9 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
    Nitric Oxide-- 10102-43-9enzymeinhibitor16242127
    NitroglycerinGlyceryl trinitrate (see all 7)55-63-0enzymesubstrate20543077

    10/61 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH2 

    Transcripts
    for ALDH2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416293 ENST00000261733(uc001tst.3 uc010syi.2) ENST00000551906
    ENST00000553044 ENST00000548536 ENST00000552234 ENST00000549106

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALDH2 (see all 7)
    OriGene shRNA RFP: ALDH2
    OriGene siRNA: ALDH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH2
    Clone
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    Primer
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    Additional cDNA 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 

    24/651 AceView cDNA sequences (see all 651):

    AV647139 AI160133 NM_000690 BM740979 AI632521 AI186384 T08954 BM765860 
    AI261830 AA316218 AL548084 M26760 BX089391 CA424936 AL538754 BQ648302 
    AA995393 K03001 BQ651870 AA332335 BM919125 BU607893 BE463837 AW020236 

    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

    Expression
    for ALDH2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGGTTGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALDH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    N2/LSB induced-cells (Generation of midbra...)

    See ALDH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH2

    SOURCE GeneReport for Unigene cluster: Hs.604551
        SABiosciences Expression via Pathway-Focused 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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ALDH2 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALDH2 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ALDH21 aldehyde dehydrogenase 2 family (mitochondrial) 76.55(n)
    85.85(a)    		   416880  XM_415171.3  XP_415171.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343282.1(19405-33915)
    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 Protein ALH-1 61.82(n)
    67.93(a)    		   175691  NM_065680.4  NP_498081.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes ALD5(YER073W)4
    ALD41    		 Mitochondrial aldehyde dehydrogenase, involved in regulation more4
    Ald4p1    		 55.81(n)1
    51.8(a)1    		   5(304030-305592)4
    8545561  NP_015019.11  8568044 
     NP_010996.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ALDH2B41 aldehyde dehydrogenase 2B4 60.03(n)
    63.04(a)    		   823955  NM_114669.3  NP_190383.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 7)    		 aldehyde dehydrogenase, putative, expressed
    (see all 7)    		 55(a)
    53(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 6(9090017-9095680)
    1(23112601-23118671)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria aldB6
    		 aldehyde dehydrogenase B
    		 40(a)
    		 possible ortholog
    		 Chromosome(3752996-3754534)


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

    Paralogs
    for ALDH2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH2 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH16A12  ALDH8A12  
    ALDH9A12  ALDH1L12  ALDH1A32  
    13 SIMAP similar genes for ALDH2 using alignment to 10 protein entries:     ALDH2_HUMAN (see all proteins):
    ALDH1A2    ALDH1B1    ALDH1A1    ALDH1A3    DKFZp686G1675    ALDH1L2
    ALDH1L1    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1    ALDH7A1
    ALDH3A1

    ALDH2 for paralogs           About GeneDecksing



    Genomic Variants
    for ALDH2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
    Polymorphism: 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


    10/678 NCBI SNPs in ALDH2 are shown (see all 678)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs6711,2
    		C,F,H,drug-response109255106(+) ACACTG/AAAGTG 4 /K /E mis1 ese326Minor allele frequency- A:0.12MN CA NS EA NA 2426
    rs557371281,2
    		C,--109216340(+) GCCTCA/GCCTTC 2 -- us2k12Minor allele frequency- G:0.09WA 120
    rs779807651,2
    		C,F,--109217096(+) GAAGTG/AGGGCC 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs71368901,2
    		A--109217542(+) gcaggC/Tgcctg 2 -- us2k10--------
    rs758120271,2
    		C,--109217847(+) CCTGGC/TCTTTG 2 -- us2k12Minor allele frequency- T:0.08WA 120
    rs64903011,2
    		C,A--109218393(+) TTGCGC/TGCTGC 4 R syn1 ese30--------
    rs120995901,2
    		C,--109219142(+) GTGGTC/GCATTT 2 -- int12Minor allele frequency- G:0.21WA 120
    rs778191451,2
    		C,--109219239(+) AATTGG/ATTATG 2 -- int12Minor allele frequency- A:0.07WA 120
    rs1168188401,2
    		C,F,--109219401(+) CTGCAC/TAGCCT 2 -- int11Minor allele frequency- T:0.02WA 118
    rs751620231,2
    		C,F,--109219657(+) ACCACC/TGATCC 2 -- int11Minor allele frequency- T:0.07EA 120

    HapMap Linkage Disequilibrium report for ALDH2 (112204346 - 112247784 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDH2: --
    Human Gene Mutation Database (HGMD): ALDH2

    Locus Specific Mutation Databases (LSDB): ALDH2

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH2

    Disorders / Diseases
    for ALDH2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ALDH2 for disorders           About GeneDecksing

    OMIM gene information: 100650   
    OMIM disorders: 610251  
    20/87 diseases for ALDH2 (see all 87):    About MalaCards
    hangover    alcoholism    attention deficit hyperactivity disorder    alcohol sensitivity, acute
    antisocial personality disorder    patent ductus arteriosus    alcohol abuse    malignant pleural mesothelioma
    type 2 diabetes mellitus    type 1 diabetes mellitus    diabetes mellitus    personality disorder
    substance abuse    liver cirrhosis    congestive heart failure    fetal alcohol syndrome
    oral cavity cancer    atrophic gastritis    alcoholic neuropathy    alcoholic liver cirrhosis

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

    10/56 Novoseek 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), 19302089 (3), 8773821 (3), 16404797 (3), 19298328 (3), 10235293 (3), 16624836 (3), 18299763 (3), 7779096 (2), 19584771 (2), 15519646 (2), 17590986 (2), 11956970 (2), 18613661 (2), 16822169 (2), 11600186 (2), 9581663 (2), 8135667 (2), 15902904 (2), 10971205 (1), 11398342 (1), 16309369 (1), 17850643 (1), 8591846 (1), 12806963 (1), 12604199 (1), 12173598 (1), 10627091 (1), 2362395 (1), 15084894 (1), 8837712 (1), 20166940 (1), 7943668 (1), 15863807 (1), 8290656 (1), 20025435 (1), 19251111 (1), 10397278 (1), 8260531 (1), 17952709 (1), 16792555 (1), 12710951 (1), 15542751 (1), 7480358 (1), 20077761 (1), 10606490 (1), 9066994 (1), 8834237 (1), 8974313 (1), 19403456 (1), 8160299 (1), 11545539 (1), 12505800 (1), 16125912 (1), 16685648 (1), 19673742 (1) (see top 4)
    liver diseases alcoholic 66.3 20 11410736 (5), 15519646 (2), 8986242 (1), 8591846 (1), 8267523 (1), 19215230 (1), 1916152 (1), 2050324 (1), 7695791 (1), 9194910 (1) (see top 4)
    pancreatitis alcoholic 60.7 7 11117576 (2), 8985275 (1), 8986224 (1), 10235286 (1), 15220553 (1) (see top 4)
    alcohol abuse 56.6 2 19251111 (1)
    alcoholic cirrhosis 54.8 7 12824748 (1), 15220553 (1), 8845660 (1), 11748356 (1), 11966948 (1) (see top 4)
    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), 12223435 (2), 17071628 (1), 17033202 (1), 18033686 (1), 17036331 (1), 18429959 (1), 9451664 (1), 19449376 (1) (see top 4)
    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

    Publications
    for ALDH2 gene

    (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)
    About This Section

    PubMed articles for ALDH2 gene, integrated from 9 sources (see all 658):
    (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. (1985)
    2. Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. (PubMed id 4015823)1, 2, 3 Yoshida A.... Tani K. (1985)
    3. 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. (2003)
    4. ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumers. (PubMed id 16365683)1, 4, 9 Yamada Y....Honda R. (2006)
    5. [Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors] (PubMed id 12824748)1, 4, 9 Kee J.Y....Chae H.B. (2003)
    6. [Polymorphism of alcohol metabolizing-related enzyme genes and its correlation with drinking-behaviors in 201 cases of Chinese Han healthy population.] (PubMed id 15842823)1, 4, 9 Cao X.R. and Wu D.S. (2005)
    7. Genetic polymorphisms of aldehyde dehydrogenase 2, cytochrome p450 2E1 for liver cancer risk in HCV antibody-positive japanese patients and the variations of CYP2E1 mRNA expression levels in the liver due to its polymorphism. (PubMed id 12940444)1, 4, 9 Kato S....Naito Z. (2003)
    8. Effects of ALDH2 gene polymorphisms and alcohol-drinking behavior on micronuclei frequency in non-smokers. (PubMed id 14568296)1, 4, 9 Ishikawa H....Yokoyama K. (2003)
    9. Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer. (PubMed id 15991278)1, 4, 9 Nan H.M....Kim H. (2005)
    10. Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism. (PubMed id 15863807)1, 4, 9 Chai Y.G....Choi I.G. (2005)

    External Searches for ALDH2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ALDH2 gene

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

    Other Databases showing ALDH2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDH2 gene

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

    Intellectual Property
    for ALDH2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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