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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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ALDH2
    OriGene Protein Over-expression Lysate: ALDH2
    OriGene Custom Protein Services for ALDH2 
    GenScript Custom Purified and Recombinant Proteins Services for ALDH2
    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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 5): ALDH2
    OriGene Custom Antibody Services for ALDH2 
    GenScript Custom Superior Antibodies Services for ALDH2
    Novus Biologicals ALDH2 Antibodies
    Abcam antibodies for ALDH2 
    Uscn Antibodies for ALDH2
    ThermoFisher Antibodies for ALDH2

    Assay Products for ALDH2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ALDH2
    Browse Enzo Life Sciences for kits & assays
    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
    Products:            		 OriGene 3'-UTR Clone: ALDH2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDH2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ALDH2
    SwitchGear 3'UTR luciferase reporter plasmid: ALDH2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    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
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for ALDH2
    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)

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

    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 
    HSPD1P108092, 3, ENSP000003400194MINT-8079030 I2D: score=2 STRING: ENSP00000340019
    SIRT3Q9NTG72, 3, ENSP000003721914MINT-8204646 I2D: score=2 STRING: ENSP00000372191
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    UBA5Q9GZZ93, ENSP000003485654I2D: score=3 STRING: ENSP00000348565
    HSPE1P616043, ENSP000002338934I2D: score=2 STRING: ENSP00000233893
    FHITP497893, ENSP000003420874I2D: score=1 STRING: ENSP00000342087
    EIF6P565373I2D: score=3 
    DDA1Q9BW613I2D: score=1 
    DLG4P783523I2D: score=1 
    FAM45AQ8TCE63I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    GBASO753233I2D: score=1 
    HNRNPKP619783I2D: score=1 
    ITGB3BPQ133523I2D: score=1 
    SH3GLB2Q9NR463I2D: score=1 
    SLC2A4P146723I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ABCB7O750272MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    ADCK3Q8NI602MINT-8079030
    AFG3L2Q9Y4W62MINT-8079030
    AGKQ53H122MINT-8079030
    AIFM1O958312MINT-8079030
    ALDH18A1P548862MINT-8079030
    ALDH1B1P308372MINT-8079030
    ALDH1L2Q3SY692MINT-8079030
    AP2M1Q96CW12MINT-8079030
    ATAD3AQ9NVI72MINT-8079030
    ATAD3BQ5T9A42MINT-8079030
    ATP5A1P257052MINT-8079030
    ATP5BP065762MINT-8079030
    ATP5C1P365422MINT-8079030
    ATP5F1P245392MINT-8079030
    ATP5HO759472MINT-8079030
    ATP5LO759642MINT-8079030
    C10orf2Q96RR12MINT-8079030
    C1QBPQ070212MINT-8079030
    C6orf203Q9P0P82MINT-8079030
    CECR5Q9BXW72MINT-8079030
    CHCHD1Q96BP22MINT-8079030
    CLPXO760312MINT-8079030
    COX4I1P130732MINT-8079030
    CPT2P237862MINT-8079030
    DAP3P513982MINT-8079030
    DBTP111822MINT-8079030
    DDX28Q9NUL72MINT-8079030
    DHX30Q7L2E32MINT-8079030
    DLDP096222MINT-8079030
    DNAJA3Q96EY12MINT-8079030
    ECH1Q130112MINT-8079030
    ECI1P421262MINT-8079030
    ENSG00000100890O150912MINT-8079030
    ERAL1O756162MINT-8079030
    ERLIN2O949052MINT-8079030
    ETFAP138042MINT-8079030
    FARS2O953632MINT-8079030
    FASTKD1Q53R412MINT-8079030
    FASTKD2Q9NYY82MINT-8079030
    FLAD1Q8NFF52MINT-8079030
    GADD45GIP1Q8TAE82MINT-8079030
    GLDCP233782MINT-8079030
    GLUD1P003672MINT-8079030
    GRPEL1Q9HAV72MINT-8079030
    GTPBP10A4D1E92MINT-8079030
    HADHAP409392MINT-8079030
    HARS2P495902MINT-8079030
    HK1P193672MINT-8079030
    HNRPDLO149792MINT-8079030
    HSD17B10Q997142MINT-8079030
    HSPA1AP081072MINT-8079030
    HSPA1BP081072MINT-8079030
    HSPA9P386462MINT-8079030
    IGF2BP2Q9Y6M12MINT-8079030
    ISCA1Q9BUE62MINT-8079030
    KARSQ150462MINT-8079030
    KIAA0391O150912MINT-8079030
    LETM1O952022MINT-8079030
    LONP1P367762MINT-8079030
    LRPPRCP427042MINT-8079030
    MALSU1Q96EH32MINT-8079030
    MCATQ8IVS22MINT-8079030
    MCCC2Q9HCC02MINT-8079030
    MCUQ8NE862MINT-8079030
    ME2P233682MINT-8079030
    METTL17Q9H7H02MINT-8079030
    MMABQ96EY82MINT-8079030
    MOV10Q9HCE12MINT-8079030
    MRM1Q6IN842MINT-8079030
    MRPL1Q9BYD62MINT-8079030
    MRPL10Q7Z7H82MINT-8079030
    MRPL11Q9Y3B72MINT-8079030
    MRPL12P528152MINT-8079030
    MRPL13Q9BYD12MINT-8079030
    MRPL14Q6P1L82MINT-8079030
    MRPL15Q9P0152MINT-8079030
    MRPL16Q9NX202MINT-8079030
    MRPL17Q9NRX22MINT-8079030
    MRPL18Q9H0U62MINT-8079030
    MRPL19P494062MINT-8079030
    MRPL2Q5T6532MINT-8079030
    MRPL20Q9BYC92MINT-8079030
    MRPL21Q7Z2W92MINT-8079030
    MRPL22Q9NWU52MINT-8079030
    MRPL24Q96A352MINT-8079030
    MRPL27Q9P0M92MINT-8079030
    MRPL28Q130842MINT-8079030
    MRPL3P090012MINT-8079030
    MRPL32Q9BYC82MINT-8079030
    MRPL37Q9BZE12MINT-8079030
    MRPL39Q9NYK52MINT-8079030
    MRPL4Q9BYD32MINT-8079030
    MRPL40Q9NQ502MINT-8079030
    MRPL41Q8IXM32MINT-8079030
    MRPL43Q8N9832MINT-8079030
    MRPL44Q9H9J22MINT-8079030
    MRPL46Q9H2W62MINT-8079030
    MRPL47Q9HD332MINT-8079030
    MRPL48Q96GC52MINT-8079030
    MRPL49Q134052MINT-8079030
    MRPL50Q8N5N72MINT-8079030
    MRPL51Q4U2R62MINT-8079030
    MRPL54Q6P1612MINT-8079030
    MRPL55Q7Z7F72MINT-8079030
    MRPL9Q9BYD22MINT-8079030
    MRPS10P826642MINT-8079030
    MRPS11P829122MINT-8079030
    MRPS14O607832MINT-8079030
    MRPS15P829142MINT-8079030
    MRPS16Q9Y3D32MINT-8079030
    MRPS17Q9Y2R52MINT-8079030
    MRPS18AQ9NVS22MINT-8079030
    MRPS18BQ9Y6762MINT-8079030
    MRPS2Q9Y3992MINT-8079030
    MRPS21P829212MINT-8079030
    MRPS22P826502MINT-8079030
    MRPS23Q9Y3D92MINT-8079030
    MRPS24Q96EL22MINT-8079030
    MRPS25P826632MINT-8079030
    MRPS26Q9BYN82MINT-8079030
    MRPS27Q925522MINT-8079030
    MRPS28Q9Y2Q92MINT-8079030
    MRPS30Q9NP922MINT-8079030
    MRPS34P829302MINT-8079030
    MRPS35P826732MINT-8079030
    MRPS5P826752MINT-8079030
    MRPS6P829322MINT-8079030
    MRPS7Q9Y2R92MINT-8079030
    MRPS9P829332MINT-8079030
    MRRFQ96E112MINT-8079030
    MT-CO2P004032MINT-8079030
    MTERFQ995512MINT-8079030
    MTERFD1Q96E292MINT-8079030
    MTG1Q9BT172MINT-8079030
    MTPAPQ9NVV42MINT-8079030
    MUTP220332MINT-8079030
    NDUFA9Q167952MINT-8079030
    NDUFAF3Q9BU612MINT-8079030
    NDUFS1P283312MINT-8079030
    NDUFS2O753062MINT-8079030
    NDUFS3O754892MINT-8079030
    NDUFS8O002172MINT-8079030
    NDUFV1P498212MINT-8079030
    NGRNQ9NPE22MINT-8079030
    NME4O007462MINT-8079030
    NOA1Q8NC602MINT-8079030
    NSUN4Q96CB92MINT-8079030
    OATP041812MINT-8079030
    PARS2Q7L3T82MINT-8079030
    PCCBP051662MINT-8079030
    PDK3Q151202MINT-8079030
    PGAM5Q96HS12MINT-8079030
    PHBP352322MINT-8079030
    PHB2Q996232MINT-8079030
    PMPCAQ107132MINT-8079030
    PMPCBO754392MINT-8079030
    PNPT1Q8TCS82MINT-8079030
    POLDIP2Q9Y2S72MINT-8079030
    POLRMTO004112MINT-8079030
    PRDX4Q131622MINT-8079030
    PRDX5P300442MINT-8079030
    PTCD1O751272MINT-8079030
    PTCD3Q96EY72MINT-8079030
    PUS1Q9Y6062MINT-8079030
    PUSL1Q8N0Z82MINT-8079030
    PYCR2Q96C362MINT-8079030
    RARS2Q5T1602MINT-8079030
    RBFAQ8N0V32MINT-8079030
    RNMTL1Q9HC362MINT-8079030
    RPUSD3Q6P0872MINT-8079030
    RPUSD4Q96CM32MINT-8079030
    SARS2Q9NP812MINT-8079030
    SFXN1Q9H9B42MINT-8079030
    SHMT2P348972MINT-8079030
    SLC25A1P530072MINT-8079030
    SLC25A10Q9UBX32MINT-8079030
    SLC25A11Q029782MINT-8079030
    SLC25A12O757462MINT-8079030
    SLC25A13Q9UJS02MINT-8079030
    SLC25A18Q9H1K42MINT-8079030
    SLC25A3Q003252MINT-8079030
    SLC25A4P122352MINT-8079030
    SLC25A5P051412MINT-8079030
    SLIRPQ9GZT32MINT-8079030
    SSBP1Q048372MINT-8079030
    STOML2Q9UJZ12MINT-8079030
    SUCLA2Q9P2R72MINT-8079030
    SUPV3L1Q8IYB82MINT-8079030
    TARS2Q9BW922MINT-8079030
    TEFMQ96QE52MINT-8079030
    TFAMQ000592MINT-8079030
    TFB1MQ8WVM02MINT-8079030
    TIMM21Q9BVV72MINT-8079030
    TOP1P113872MINT-8079030
    TRMT10CQ7L0Y32MINT-8079030
    TRUB2O959002MINT-8079030
    UQCRC1P319302MINT-8079030
    UQCRC2P226952MINT-8079030
    UQCRFS1P479852MINT-8079030
    VARS2Q5ST302MINT-8079030
    VDAC1P217962MINT-8079030
    VDAC3Q9Y2772MINT-8079030
    WBSCR16Q96I512MINT-8079030
    YARS2Q9Y2Z42MINT-8079030
    YME1L1Q96TA22MINT-8079030
    ABATENSP000002682514STRING: ENSP00000268251
    ACSS1ENSP000003169244STRING: ENSP00000316924
    ACSS2ENSP000003538044STRING: ENSP00000353804
    ACSS3ENSP000002612064STRING: ENSP00000261206
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH5ENSP000002964124STRING: ENSP00000296412
    ADH6ENSP000003783594STRING: ENSP00000378359
    ADH7ENSP000002096654STRING: ENSP00000209665
    AKR1A1ENSP000003126064STRING: ENSP00000312606
    AKR1B1ENSP000002859304STRING: ENSP00000285930
    ALDH6A1ENSP000003425644STRING: ENSP00000342564
    AOC3ENSP000003123264STRING: ENSP00000312326
    ASMTENSP000003706394STRING: ENSP00000370639
    CATENSP000002410524STRING: ENSP00000241052
    COMTENSP000003545114STRING: ENSP00000354511
    CYP2E1ENSP000002529454STRING: ENSP00000252945
    EHHADHENSP000002318874STRING: ENSP00000231887
    GAD1ENSP000003509284STRING: ENSP00000350928
    GATMENSP000003798954STRING: ENSP00000379895
    GLYCTKENSP000003891754STRING: ENSP00000389175
    HADHENSP000003122884STRING: ENSP00000312288
    HIBADHENSP000002653954STRING: ENSP00000265395
    MAOAENSP000003406844STRING: ENSP00000340684
    MAOBENSP000003673094STRING: ENSP00000367309
    ABP1ENSP000003541934STRING: ENSP00000354193
    ACOT12ENSP000003032464STRING: ENSP00000303246
    ACYP1ENSP000002386184STRING: ENSP00000238618
    ACYP2ENSP000003781614STRING: ENSP00000378161
    AOC2ENSP000002537994STRING: ENSP00000253799
    BBOX1ENSP000002631824STRING: ENSP00000263182
    CARNS1ENSP000003082684STRING: ENSP00000308268
    CNDP1ENSP000003516824STRING: ENSP00000351682
    CYP4A11ENSP000003110954STRING: ENSP00000311095
    CYP4A22ENSP000003609584STRING: ENSP00000360958
    GAD2ENSP000002592714STRING: ENSP00000259271
    TYRP1ENSP000003735704STRING: ENSP00000373570
    UPB1ENSP000003243434STRING: ENSP00000324343
    ACY3ENSP000002550824STRING: ENSP00000255082
    ADSSENSP000003554934STRING: ENSP00000355493
    ADSSL1ENSP000003330194STRING: ENSP00000333019
    ALDH4A1ENSP000002905974STRING: ENSP00000290597
    ASNSENSP000001755064STRING: ENSP00000175506
    ASPAENSP000002630804STRING: ENSP00000263080
    ASS1ENSP000002530044STRING: ENSP00000253004
    CADENSP000002647054STRING: ENSP00000264705
    GOT1ENSP000003595394STRING: ENSP00000359539
    GOT2ENSP000002452064STRING: ENSP00000245206
    IL4I1ENSP000003425574STRING: ENSP00000342557
    UBCENSP000003448184STRING: ENSP00000344818
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    RPL13AENSP000003757304STRING: ENSP00000375730
    --NP_005821.12MINT-8079030
    --NP_006830.12MINT-8079030
    --A6NLE72MINT-8079030
    --NP_115727.32MINT-8079030
    --NP_001627.12MINT-8079030
    --XP_944686.12MINT-8079030
    --A0EJG63I2D: score=1 
    --NP_872307.22MINT-8079030
    --Q12849-22MINT-8079030
    --NP_003625.12MINT-8079030
    --NP_057049.32MINT-8079030
    --NP_004159.12MINT-8079030
    --Q5JWN52MINT-64415
    --NP_002444.22MINT-8079030
    --ENSP000004128884STRING: ENSP00000412888
    --B2R8942MINT-8079030
    --XP_001126125.12MINT-8079030
    --NP_079114.22MINT-8079030
    --NP_003312.32MINT-8079030
    --NP_005006.12MINT-8079030
    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
    Products:             		 OriGene 3'-UTR Clone: ALDH2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDH2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ALDH2
    SwitchGear 3'UTR luciferase reporter plasmid: ALDH2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    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
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH2

    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH2
    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
    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 or biosynthesis of electron transport chain components and acetate formation; activated by K+; utilizes NADP+ as the preferred coenzyme; constitutively expressed less4
    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

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    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) (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

    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
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    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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