Homo sapiens Gene: ALDH2
Summary
InnateDB Gene IDBG-57710.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDH2
Gene Name aldehyde dehydrogenase 2 family (mitochondrial)
Synonyms ALDH-E2; ALDHI; ALDM;
Species Homo sapiens
Ensembl Gene ENSG00000111275
Encoded Proteins
aldehyde dehydrogenase 2 family (mitochondrial)
aldehyde dehydrogenase 2 family (mitochondrial)
aldehyde dehydrogenase 2 family (mitochondrial)
aldehyde dehydrogenase 2 family (mitochondrial)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:111766887-111809985
Strand Forward strand
Band q24.12
Transcripts
ENST00000261733 ENSP00000261733
ENST00000416293 ENSP00000403349
ENST00000548536 ENSP00000448179
ENST00000549106 ENSP00000474669
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 19 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006066 alcohol metabolic process
GO:0006068 ethanol catabolic process
GO:0006069 ethanol oxidation
GO:0006805 xenobiotic metabolic process
GO:0007268 synaptic transmission
GO:0008152 metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005759 mitochondrial matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Neuronal System pathway
Neurotransmitter Clearance In The Synaptic Cleft pathway
Serotonin clearance from the synaptic cleft pathway
Transmission across Chemical Synapses pathway
Metabolism of serotonin pathway
Metabolism pathway
Biological oxidations pathway
Ethanol oxidation pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Pentose and glucuronate interconversions pathway
Ascorbate and aldarate metabolism pathway
Fatty acid degradation pathway
Valine, leucine and isoleucine degradation pathway
Lysine degradation pathway
Arginine and proline metabolism pathway
Histidine metabolism pathway
Tryptophan metabolism pathway
beta-Alanine metabolism pathway
Glycerolipid metabolism pathway
Pyruvate metabolism pathway
INOH
Lysine degradation pathway
Histidine degradation pathway
Tryptophan degradation pathway
Propanoate metabolism pathway
Arginine Proline metabolism pathway
Pyruvate metabolism pathway
Valine Leucine Isoleucine degradation pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P05091
TrEMBL B0LUF9 B4YAH7 F8VSB0 Q9UN17
UniProt Splice Variant
Entrez Gene 217
UniGene Hs.604551
RefSeq NM_000690 NM_001204889
HUGO HGNC:404
OMIM 100650
CCDS CCDS55885 CCDS9155
HPRD
IMGT
EMBL AC002996 AC003029 AF164120 AK301375 AY621070 BC002967 BC071839 CR456991 EU373804 EU373808 EU373810 EU373812 EU414249 EU414250 EU414251 EU414252 EU414253 EU414254 EU414255 EU414256 EU414257 EU414258 K03001 M20444 M20445 M20446 M20447 M20448 M20449 M20450 M20451 M20452 M20453 M20454 M20456 M26760 M54931 X05409 Y00109
GenPept AAA51693 AAA51694 AAA62825 AAB59500 AAD48447 AAH02967 AAH71839 AAT41621 ABY79820 ABY79824 ABY79826 ABY79828 ACF25889 ACF25890 ACF25891 ACF25892 ACF25893 ACF25894 ACF25895 ACF25896 ACF25897 ACF25898 BAG62916 CAA28990 CAA68290 CAG33272
RNA Seq Atlas 217