Human Gene ALDH2 (ENST00000261733.7)
  Description: Homo sapiens aldehyde dehydrogenase 2 family member (ALDH2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000690)
RefSeq Summary (NM_000690): 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 East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians 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, Nov 2016].
Gencode Transcript: ENST00000261733.7
Gencode Gene: ENSG00000111275.13
Transcript (Including UTRs)
   Position: hg38 chr12:111,766,933-111,817,532 Size: 50,600 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr12:111,766,983-111,809,575 Size: 42,593 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:111,766,933-111,817,532)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ALDH2_HUMAN
DESCRIPTION: RecName: Full=Aldehyde dehydrogenase, mitochondrial; EC=1.2.1.3; AltName: Full=ALDH class 2; AltName: Full=ALDH-E2; AltName: Full=ALDHI; Flags: Precursor;
CATALYTIC ACTIVITY: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
PATHWAY: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
SUBUNIT: Homotetramer.
SUBCELLULAR LOCATION: Mitochondrion matrix.
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.
SIMILARITY: Belongs to the aldehyde dehydrogenase family.
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;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDH2ID250.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: ALDH2
Diseases sorted by gene-association score: alcohol sensitivity, acute* (575), alcohol dependence (26), alcoholic neuropathy (23), alcohol abuse (18), alcoholic liver cirrhosis (16), fetal alcohol syndrome (13), alcoholic pancreatitis (10), antisocial personality disorder (9), esophageal cancer (9), inflammatory and toxic neuropathy (8), alcoholic cardiomyopathy (7), conduct disorder (6), personality disorder (6), oral cavity cancer (5), succinic semialdehyde dehydrogenase deficiency (5), liver cirrhosis (5), myocardial infarction (1), nicotine dependence, protection against (1), pancreatitis, hereditary (1), disease of mental health (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 594.94 RPKM in Liver
Total median expression: 6688.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.4050-0.208 Picture PostScript Text
3' UTR -3205.907957-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016161 - Ald_DH/histidinol_DH
IPR016163 - Ald_DH_C
IPR016160 - Ald_DH_CS
IPR016162 - Ald_DH_N
IPR015590 - Aldehyde_DH_dom

Pfam Domains:
PF00171 - Aldehyde dehydrogenase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1CW3
- X-ray MuPIT

1NZW
- X-ray MuPIT

1NZX
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1NZZ - X-ray MuPIT 1O00 - X-ray MuPIT 1O01 - X-ray MuPIT
1O02 - X-ray MuPIT 1O04 - X-ray MuPIT 1O05 - X-ray MuPIT
1ZUM - X-ray MuPIT 2ONM - X-ray MuPIT 2ONN - X-ray MuPIT
2ONO - X-ray MuPIT 2ONP - X-ray MuPIT 2VLE - X-ray MuPIT
3INJ - X-ray MuPIT 3INL - X-ray MuPIT 3N80 - X-ray MuPIT
3N81 - X-ray MuPIT 3N82 - X-ray MuPIT 3N83 - X-ray MuPIT
3SZ9 - X-ray MuPIT 4FQF - X-ray MuPIT 4FR8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P05091
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
GO:0051287 NAD binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006066 alcohol metabolic process
GO:0006068 ethanol catabolic process
GO:0006069 ethanol oxidation
GO:0008152 metabolic process
GO:0022900 electron transport chain
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AY621070 - Homo sapiens mitochondrial aldehyde dehydrogenase 2 (ALDH2) mRNA, complete cds; nuclear gene for mitochondrial product.
BC002967 - Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial), mRNA (cDNA clone MGC:1806 IMAGE:3543343), complete cds.
X05409 - Human RNA for mitochondrial aldehyde dehydrogenase I ALDH I (EC 1.2.1.3).
AK223373 - Homo sapiens mRNA for mitochondrial aldehyde dehydrogenase 2 precursor variant, clone: FCC104A07.
AK301375 - Homo sapiens cDNA FLJ50888 complete cds, highly similar to Aldehyde dehydrogenase, mitochondrial precursor (EC 1.2.1.3).
Y00109 - Human mRNA for mitochondrial aldehyde dehydrogenase (ALDH I).
AK314856 - Homo sapiens cDNA, FLJ95755.
BC071839 - Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial), mRNA (cDNA clone MGC:88499 IMAGE:5477768), complete cds.
AB385105 - Synthetic construct DNA, clone: pF1KB5485, Homo sapiens ALDH2 gene for aldehyde dehydrogenase 2 family, complete cds, without stop codon, in Flexi system.
JF432260 - Synthetic construct Homo sapiens clone IMAGE:100073430 aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2) gene, encodes complete protein.
KJ890655 - Synthetic construct Homo sapiens clone ccsbBroadEn_00049 ALDH2 gene, encodes complete protein.
CR456991 - Homo sapiens full open reading frame cDNA clone RZPDo834H0211D for gene ALDH2, aldehyde dehydrogenase 2 family (mitochondrial); complete cds, incl. stopcodon.
GQ891366 - Homo sapiens clone HEL-S-154l epididymis secretory sperm binding protein mRNA, complete cds.
M26760 - Human aldehyde dehydrogenase II (ALDH-2) mRNA, 3' end.
K03001 - Human aldehyde dehydrogenase 2 mRNA.
JD375952 - Sequence 356976 from Patent EP1572962.
CU678320 - Synthetic construct Homo sapiens gateway clone IMAGE:100020285 5' read ALDH2 mRNA.
M54931 - Human aldehyde dehydrogenase I mRNA, partial cds.
S80262 - HMGI-C...ALDH 2 {junction region} [human, uterine leiomyoma, mRNA Partial Mutant, 3 genes, 410 nt].
JD063089 - Sequence 44113 from Patent EP1572962.
JD021296 - Sequence 2320 from Patent EP1572962.
JD027796 - Sequence 8820 from Patent EP1572962.
JD504238 - Sequence 485262 from Patent EP1572962.
JD235886 - Sequence 216910 from Patent EP1572962.
JD564393 - Sequence 545417 from Patent EP1572962.
JD558318 - Sequence 539342 from Patent EP1572962.
JD323070 - Sequence 304094 from Patent EP1572962.
JD425850 - Sequence 406874 from Patent EP1572962.
JD366326 - Sequence 347350 from Patent EP1572962.
JD366325 - Sequence 347349 from Patent EP1572962.
JD293365 - Sequence 274389 from Patent EP1572962.
JD409681 - Sequence 390705 from Patent EP1572962.
JD497644 - Sequence 478668 from Patent EP1572962.
JD140086 - Sequence 121110 from Patent EP1572962.
JD542521 - Sequence 523545 from Patent EP1572962.
JD212327 - Sequence 193351 from Patent EP1572962.
JD212328 - Sequence 193352 from Patent EP1572962.
JD197732 - Sequence 178756 from Patent EP1572962.
JD412654 - Sequence 393678 from Patent EP1572962.
JD412655 - Sequence 393679 from Patent EP1572962.
JD512581 - Sequence 493605 from Patent EP1572962.
JD512583 - Sequence 493607 from Patent EP1572962.
JD563409 - Sequence 544433 from Patent EP1572962.
JD421524 - Sequence 402548 from Patent EP1572962.
JD447172 - Sequence 428196 from Patent EP1572962.
JD366632 - Sequence 347656 from Patent EP1572962.
JD366633 - Sequence 347657 from Patent EP1572962.
JD366634 - Sequence 347658 from Patent EP1572962.
DQ583335 - Homo sapiens piRNA piR-50447, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00053 - Ascorbate and aldarate metabolism
hsa00071 - Fatty acid metabolism
hsa00280 - Valine, leucine and isoleucine degradation
hsa00310 - Lysine degradation
hsa00330 - Arginine and proline metabolism
hsa00340 - Histidine metabolism
hsa00380 - Tryptophan metabolism
hsa00410 - beta-Alanine metabolism
hsa00561 - Glycerolipid metabolism
hsa00620 - Pyruvate metabolism
hsa00640 - Propanoate metabolism
hsa00650 - Butanoate metabolism
hsa00903 - Limonene and pinene degradation
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
2PHENDEG-PWY - phenylethylamine degradation I
MGLDLCTANA-PWY - methylglyoxal degradation VI
PWY-0 - putrescine degradation III
PWY-6313 - serotonin degradation
PWY-6342 - noradrenaline and adrenaline degradation
PWY66-161 - oxidative ethanol degradation III
PWY66-162 - ethanol degradation IV
PWY66-21 - ethanol degradation II
PWY66-387 - fatty acid α-oxidation
PWY66-388 - fatty acid α-oxidation III
PWY66-401 - superpathway of tryptophan utilization

Reactome (by CSHL, EBI, and GO)

Protein P05091 (Reactome details) participates in the following event(s):

R-HSA-71723 acetaldehyde + NAD+ => acetate + NADH + H+ [mitochondrial]
R-HSA-380608 5-hydroxyindole acetaldehyde to 5-hydroxyindole acetic acid
R-HSA-71384 Ethanol oxidation
R-HSA-380612 Metabolism of serotonin
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-380615 Serotonin clearance from the synaptic cleft
R-HSA-211859 Biological oxidations
R-HSA-112311 Neurotransmitter clearance
R-HSA-1430728 Metabolism
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ALDH2_HUMAN, ALDM, ENST00000261733.1, ENST00000261733.2, ENST00000261733.3, ENST00000261733.4, ENST00000261733.5, ENST00000261733.6, NM_000690, P05091, Q03639, Q6IB13, Q6IV71, uc001tst.1, uc001tst.2, uc001tst.3, uc001tst.4, uc001tst.5
UCSC ID: ENST00000261733.7
RefSeq Accession: NM_000690
Protein: P05091 (aka ALDH2_HUMAN or DHAM_HUMAN)
CCDS: CCDS9155.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.