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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 our new
 Human Malady Compendium 
Biological research products
for ALDH2
    

(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


(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


(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

(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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    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



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    (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


    (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

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    SwitchGear 3'UTR luciferase reporter plasmidALDH2 3' UTR sequence
    Inhib. RNA
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    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 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 22About 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



    (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 

    (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

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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 

    651 AceView cDNA sequences (see top 24):

    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 
    CD014082 BQ083488 BM783506 BM980181 BQ881103 AI017596 AY323912 BM511646 
    BP871792 AI272886 AA923050 BM765615 AI460073 BU186773 W17229 AI865937 
    AA649842 AV650275 AV650270 BG696274 BU687348 BM760986 AI751738 BM853466 
    CB851098 BG743241 AA341219 BM702187 F37029 BM765982 CD368410 AI568300 
    AA969786 CN479669 BQ013909 BX448088 BM993788 BI491284 BC003698 AA350809 
    R53433 CR618953 BM784026 BM772876 CR620819 AI499010 NM_025247 BM766085 
    BE502351 BG056829 BX420523 AY621070 AL532964 BQ925300 AL043849 BI834562 
    CR617194 AL522848 BI517895 BP430017 AW300041 BM739192 BQ362166 BM773382 
    CD515435 BU626457 BM986820 AW102979 CA397701 BF725614 BC015056 AA862149 
    AA350808 BQ631709 AW105496 BC071839 CN484903 BE887478 AI564125 AI276955 
    CB991970 AA548678 BM992703 BU171977 BM702136 BQ933288 AW473980 AW188884 
    BM664828 BX488932 BQ643713 AI632626 AA677335 AA243179 AV650553 AK097425 
    AL522212 AV653398 BQ648251 AI146792 AI870910 AV651965 AA973381 BU174018 
    AV647132 AL531568 AA715095 AA419072 BM784297 BQ347284 AI350206 BQ071238 
    AI354279 AA826948 CN478497 BP430561 BU732519 CR591627 T72070 BM746224 
    CF456426 BM852361 BE272838 AV655407 CB997156 AL043850 AL564795 BM982203 
    AI090447 BM765605 BM784372 BU151478 CR609508 BU849300 AI056873 BI771112 
    BM782514 CD721913 AA830815 BM695868 BM694407 CB267416 BE512931 AL545580 
    AI745184 Y00109 BI599642 BI598385 AA830692 BM760214 CD609387 AA351250 
    N74351 BM818632 AV659144 AL563391 AA687978 BI917012 BG703709 BF570286 
    AL529224 X05409 AA384097 AA857126 CD250420 BF313441 AA765002 AW149663 
    C04917 BI818497 CD609386 CD632609 BI226360 BG740760 BI599786 BQ643884 
    BG696292 AL564722 N35960 AV653329 AI884933 H81440 W67184 AA936763 
    BI668048 AV657228 AL521490 CB955700 BQ339093 T74869 BM754970 AI418190 
    BG386210 AA191502 BG332061 BX957030 AV653686 BM562957 CD609388 AK092356 
    BU689240 CB851683 AI127324 BQ708964 BI668144 AW021522 AA700657 BQ648143 
    AI672769 CB241032 BQ653982 BQ002641 BI259438 BE269992 BQ879981 BM991609 
    AW851378 BX383653 AI890849 AA419133 AA806909 T28511 AI183979 AW514959 
    AX747497 BX473078 BG745105 BG341751 BP346797 CB128990 AI857571 AA701647 
    AW452861 BE562170 AL540170 BU617708 AI245370 AA076429 BM739814 R07565 
    AI984337 BM817637 BQ646098 BM851430 AV662302 AA305818 BE396883 AV701585 
    AV721915 AI862132 AI950247 BX448087 AA581431 AL553428 BG105703 CA336043 
    D25565 AI763276 AI992012 AV659530 BU682550 AV690920 AV646244 AA565719 
    AL534034 BE048742 AI309739 AA548866 AI889135 BM769438 AA435546 AL530994 
    AL545610 BM741106 CD368353 BU552540 BE049504 BC054886 BQ362168 AI184077 
    BG721446 AI346161 BI914151 AA322407 BG428456 BG564228 BU732011 AA334335 
    BQ027202 CB162312 AV706424 AL559753 BI667488 AV701855 AA789204 BC002967 
    BQ083810 CA419108 AA360052 BM817955 F25106 AI627757 AI338644 AA669031 
    BM747449 AV723394 CB163633 BQ632009 BG328130 CR456991 BX453759 BM786119 
    BQ373341 BF808561 AW589506 BE259405 CB161783 BQ678707 AI766057 CB269953 
    CB269884 AL532910 AW002529 BQ694149 AA489164 AV693735 AW295020 AI279282 
    AV650644 BM853139 CA444245 BU156710 AA628643 BE268288 BF793170 BE544889 
    BM708164 BI770469 AL576537 W90656 CA390961 CD609389 BG744459 BI599195 
    BG706187 AW851241 AV703977 AA828220 BF311303 AW594477 CB268218 AI339715 
    AW243409 BM981746 AI366145 BI597143 AI942236 BF569767 N27870 CF994941 
    AI268380 AI052517 CB991534 AW081518 CB990195 AI348381 BG700585 BP347555 
    BG705866 AV655305 AI379712 BU177658 CF272524 BI913330 BQ315616 BQ433381 
    AA017217 AW089862 BQ721037 BI463093 BQ649410 BM677229 AW270045 AW768305 
    AI190867 AW295074 CB144887 BM826605 AL832043 AI268376 BI548184 AW079838 
    AI367322 AI131041 BQ339092 BM744361 BF314445 AV650656 BF826694 BF114908 
    N74405 AW589517 BG980589 BG707081 BM544143 N89731 BG900019 BG490305 
    AV707850 AA341546 AI815475 AV693532 AV660163 CA394715 BF314378 AA788867 
    AA410613 BQ648530 AW954725 AV693007 AK021975 CB048182 BF344529 R53432 
    AW294795 W67240 AA758787 CK823916 AI004249 AV646965 CO245288 AA037614 
    BE857218 W67378 F27665 AA012947 AV691479 AV720989 AI765605 AA496388 
    AA434407 AA705896 AI050927 BM745881 BF968248 AI634926 BG707510 AV652430 
    BM721621 AI092061 AA345444 AA026147 BQ324900 N40645 BG984725 BU570603 
    BF115704 BP349729 CB962070 AV685898 AA326036 BM729983 W84741 BE893574 
    BQ353001 BG490346 AI951757 AV684344 AU120197 BU623183 BF206393 AA738185 
    BQ718952 AW026717 AV686137 AV684856 AA404250 BM981965 AV646976 AV721790 
    BQ693976 AW264657 BQ315615 BQ927465 BM012188 BQ373340 BM906563 BM664881 
    AL518832 BI497015 BG740249 AW884076 BI765606 AV653327 M54931 H75881 
    AA394012 T74921 AA319913 AL521592 AW821725 AV687009 AV704569 AI491735 
    AA243240 AA805610 AV691637 T03708 AV684238 AI547271 BM144813 BI919205 
    N92748 BF335423 BG899576 BM477788 BQ352997 BQ339279 BI601649 BG705999 
    AA027226 AA341892 AW966987 AI907063 AL568263 H75747 AV659016 AI351723 
    AL045358 CB267160 AW977100 AV687674 AW664614 AA336569 AL531567 CD695889 
    AW874009 AA604066 T60310 BM011561 BQ324100 AW136569 W84766 AL521489 
    AA977930 BG370163 AW269253 CD102576 AV683922 AL548048 BE049508 AI632515 
    R07512 AW900642 AL565353 BI226597 AA669174 AA862409 W19404 AA017310 
    AA618520 AL045357 BQ353667 W67263 AV694283 C75356 AV684039 H42315 
    AA568841 AL538753 BX410187 AI610783 AA404700 BQ352998 BQ353737 CD357303 
    BQ679489 AV726621 BE786079 BF035140 BQ682187 T26508 AL521593 AA037613 
    BM047696 BI518173 H41079 BG950099 AA316472 AV658732 R35319 BQ324098 
    AA434505 T95776 AV689772 AL522211 BQ364637 N85268 AL581304 BF947255 
    AA013041 T39905 BF854738 T55826 BX422479 AW438690 BG538384 BQ319167 
    AV749998 BQ350772 BF754711 BQ324097 C21226 AW367449 AW953291 BE259963 
    H43081 BG370158 H67138 AL522847 BG315393 AW960865 BQ350990 T64759 
    T95777 BE168955 AL518833 

    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™, 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
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH2

    (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 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



    (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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, 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) (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)
    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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 217 HGNC: 404 AceView: ALDH2andACAD10 Ensembl:ENSG00000111275 euGenes: HUgn217
    ECgene: ALDH2 Kegg: 217 H-InvDB: ALDH2

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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     OriGene Antibodies for ALDH2   OriGene shRNA RFP for ALDH2  
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     ALDH2 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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