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Aliases & Descriptions for ALDH2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ALDH-E2 2, 3 | | ALDHI 2, 3 | | ALDM 2, 3 | | EC 1.2.1.3 3 | | MGC1806 2 |
| | | Descriptions |
|---|
| ALDH class 2 2, 3 | | acetaldehyde dehydrogenase 2 2 | | aldehyde dehydrogenase 2 family (mitochondrial) 2 | | liver mitochondrial ALDH 2 | | mitochondrial aldehyde dehydrogenase 2 2 | | nucleus-encoded mitochondrial aldehyde dehydrogenase 2 2 |
|
| | Search outside databases for aliases for ALDH2 genePrevious GC identifers: GC12P111101 GC12P111726 GC12P111987 GC12P110616 |
Summaries for ALDH2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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 this enzyme, 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 only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. [provided by RefSeq] Gene Wiki entry for ALDH2 |
Genomic Location for ALDH2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ALDH2 gene 
Entrez Gene cytogenetic band: 12q24.2 Ensembl cytogenetic band: 12q24.12 HGNC cytogenetic band: 12q24.12ALDH2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P110667:
(about GC identifiers)
Start:
|
110,688,729 bp from pter |
End:
|
110,732,167 bp from pter |
Size:
|
43,439 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000012.10 NT_009775.16
| Proteins for ALDH2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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;
PDB structures from and Proteopedia :1CW3 (3D)
 1NZW (3D)
 1NZX (3D)
 1NZZ (3D)
 1O00 (3D)
 1O01 (3D)
 1O02 (3D)
 1O04 (3D)
 1O05 (3D)
 1ZUM (3D)
 2ONM (3D)
 2ONN (3D)
 2ONO (3D)
 2ONP (3D)
 2VLE (3D)
 
Secondary accessions: Q03639 Q6IB13 Q6IV71Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000681.2
ENSEMBL proteins: ENSP00000261733
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ALDH2 
2 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- | | GO:0005759 | mitochondrial matrix |
IEA | -- | About this table
Antibodies for ALDH2: Assays for ALDH2: | Protein
Domains/ Families for ALDH2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P05091Similarity: Belongs to the aldehyde dehydrogenase family | Gene Function for ALDH2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000690
Applied Biosystems Silencer® siRNAs for ALDH2
Sigma-Aldrich siRNA and siRNA Panels for ALDH2  Sigma-Aldrich shRNA for ALDH2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000690                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000690                                  untagged cDNA clone in CMV expression vector: NM_000690 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000690
UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091Catalytic activity: An aldehyde + NAD(+) + H(2)O = an acid + NADHEnzyme Number (IUBMB): EC 1.2.1.3 Genatlas biochemistry entry for ALDH2:aldehyde dehydrogenase 2,mitochondrial,E2 isoform2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Aldh2):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ALDH2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/17 Sigma-Aldrich "Your Favorite Gene" Pathways for ALDH2 (Your Favorite Gene powered by Ingenuity) (see all 17
) 
UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2 Gene Network CentralTM Interacting Genes and Proteins Network for ALDH2 
5/100 Interacting proteins for ALDH2 (ENSP000002617333 P050912) via UniProtKB, MINT, and/or STRING (see all 100
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ALDH2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for ALDH2: Blocker |
Browse Tocris compounds for ALDH2 10/33 Novoseek chemical compound relationships for ALDH2 gene (see all 33
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ethanol |
75.23 |
112 |
19144977 (4), 16316071 (3), 10826103 (3), 8512495 (3) (see all 54) |
| propionaldehyde |
68.62 |
2 |
15703303 (1), 17655326 (1) |
| retinaldehyde |
63.29 |
1 |
10559215 (1) |
| aldophosphamide |
62.01 |
2 |
1610409 (2) |
| rsai |
59.54 |
2 |
15318112 (1), 11696658 (1) |
| betaine aldehyde |
56.53 |
1 |
1527093 (1) |
| vinylchloride |
55.12 |
19 |
12739102 (4), 17384900 (2), 12705718 (2), 17659824 (1) (see all 5) |
| nad+ |
50.69 |
7 |
8433985 (1), 11306026 (1), 17327228 (1), 18983993 (1) (see all 6) |
| benzaldehyde |
48.08 |
1 |
18061070 (1) |
| decanal |
46.82 |
1 |
8605195 (1) |
About this table
2 PharmGKB drug compound relationships for ALDH2 geneAbout this table
|
Transcripts for ALDH2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000690
Sigma-Aldrich siRNA and siRNA Panels for ALDH2  Sigma-Aldrich shRNA for ALDH2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000690 REFSEQ mRNAs for ALDH2 gene: NM_000690.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000690               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000690                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000690                                  untagged cDNA clone in CMV expression vector: NM_000690  Additional cDNA sequence: AK223373.1 AK301375.1 AK314856.1 AY621070.1 BC002967.1 BC071839.1 BC127796.1 CR456991.1 CR609508.1 CR617194.1 CR618953.1 CR620819.1 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
):AL043850 AA715095 W17229 AI751738 AA923050 BU151478 BU849300 AL043849 BM782514 BM980181 AK097425 BU186773 AV650553 CF456426 AA419072 BM765605 BQ933288 AA316218 AL532964 BU607893 BI491284 M26760 BM784297 BU174018
highest scoring ESTs for ALDH2:X05409 AA012947 AA017217 AA021588 AA191502 AA322407 AA384097 AA394012 AA410613 AA419072 Unigene Cluster for ALDH2: Aldehyde dehydrogenase 2 family (mitochondrial) Hs.632733 [show with all ESTs]Unigene Representative Sequence: NM_000690
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH2
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ALDH2
1 Ensembl transcript including schematic representation: ENST00000261733
|
Expression for ALDH2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ALDH2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ALDH2
1 / 2 / 3 3 probe-sets matching ALDH2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GTGGGTTGGC
SOURCE GeneReport for Unigene cluster: Hs.632733
Expression variation in blood from EXPOLDB for ALDH2 |
Orthologs for ALDH2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ALDH2 gene from 5/17 species (see all 17
)
About this table Species with no ortholog for ALDH2
ENSEMBL Gene Tree for ALDH2 | Paralogs for ALDH2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ALDH2 gene
- ALDH1B12
|
SNPs/Variants for ALDH2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091Polymorphism: Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians
HapMap Linkage Disequilibrium images for ALDH2 (up to first 250kb)
|
Disorders & Mutations for ALDH2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 100650 UniProtKB/Swiss-Prot: ALDH2_HUMAN, P05091
Defects in ALDH2 are a cause of acute alcohol sensitivity [MIM:610251]. There are wide individual differences in responses to drinking alcohol. Recent estimates claim that subjective effects (how people feel when they drink) vary from 200%-300% in the adult population, and ethanol metabolism (how quickly alcohol is absorbed into the bloodstream and metabolized by the liver) varies by approximately 200%. Unfortunately, alcohol researchers know very little about why such drastic differences occur between individuals and how individual differences in alcohol sensitivity might link drinking behavior with problematic alcohol-related outcomes10/54 Novoseek disease relationships for ALDH2 gene (see all 54
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| alcoholism |
82.96 |
113 |
7625477 (5), 10803776 (4), 1492799 (4), 7573775 (3) (see all 53) |
| liver diseases alcoholic |
66.51 |
20 |
11410736 (5), 15519646 (2), 8986242 (1), 8591846 (1) (see all 10) |
| pancreatitis alcoholic |
61.90 |
7 |
11117576 (2), 8985275 (1), 8986224 (1), 10235286 (1) (see all 5) |
| alcohol abuse |
58.21 |
2 |
19251111 (1) |
| alcoholic cirrhosis |
56.31 |
7 |
12824748 (1), 15220553 (1), 8845660 (1), 11748356 (1) (see all 5) |
| alcoholic neuropathy |
53.47 |
3 |
15182962 (2), 15542751 (1) |
| macrocytosis |
52.25 |
2 |
16759795 (1), 17295873 (1) |
| smoking habit |
44.14 |
9 |
15714130 (3), 18216179 (2), 8903472 (2), 17207821 (1) |
| carcinoma squamous cell |
40.82 |
17 |
16759795 (2), 16639733 (2), 12223435 (2), 18322963 (2) (see all 11) |
| chronic pancreatitis |
40.53 |
8 |
17454860 (2), 18773092 (1), 19096130 (1), 11966948 (1) (see all 6) |
About this table
2 PharmGKB disease relationships for ALDH2 geneAbout this table
Genatlas disease: ALDH2 facial flushing reaction to alcohol Human Gene Mutation Database: ALDH2 Genetic Association Database: ALDH2 Human Genome Epidemiology Navigator: ALDH2 (226 documents)
|
Medical News for ALDH2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ALDH2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/491 PubMed articles for ALDH2 gene (see all 491
):- Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. (PubMed id 2987944)2, 3, 4 Hsu L.C....Yoshida A. (1985)
- Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. (PubMed id 4015823)2, 3, 4 Yoshida A.... Tani K. (1985)
- Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association with elevated liver enzymes and metabolic syndrome. (PubMed id 14506613)1, 3, 6 Murata C....Okazaki I. (2003)
- [Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors] (PubMed id 12824748)1, 3, 6 Kee J.Y....Chae H.B. (2003)
- [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, 3, 6 Cao X.R. and Wu D.S. (2005)
- Effects of ALDH2 gene polymorphisms and alcohol-drinking behavior on micronuclei frequency in non-smokers. (PubMed id 14568296)1, 3, 6 Ishikawa H....Yokoyama K. (2003)
- 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, 3, 6 Kato S....Naito Z. (2003)
- Alcoholism, ALDH2*2 allele and the A1 allele of the dopamine D2 receptor gene: an association study. (PubMed id 11600186)1, 3, 6 Matsushita S....Higuchi S. (2001)
- ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumers. (PubMed id 16365683)1, 3, 6 Yamada Y....Honda R. (2006)
- Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer. (PubMed id 15991278)1, 3, 6 Nan H.M....Kim H. (2005)
|
Search for ALDH2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ALDH2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ALDH2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ALDH2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ALDH2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for ALDH2:

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