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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]
ALDH2 (Aldehyde Dehydrogenase 2 Family Member) is a Protein Coding gene. Diseases associated with ALDH2 include Alcohol Sensitivity, Acute and Alcohol Dependence. Among its related pathways are Glucose metabolism and Neurotransmitter Clearance In The Synaptic Cleft. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1B1.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004029 | aldehyde dehydrogenase (NAD) activity | IDA | 4015840 |
GO:0004030 | aldehyde dehydrogenase [NAD(P)+] activity | TAS | 8903321 |
GO:0009055 | electron transfer activity | TAS | 8903321 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Neurotransmitter Clearance In The Synaptic Cleft | ||
3 | ethanol degradation II | ||
4 | beta-Alanine metabolism (KEGG) | ||
5 | Metabolism |
.40
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | TAS | 8903321 |
GO:0006066 | alcohol metabolic process | TAS | 1306115 |
GO:0006068 | ethanol catabolic process | IEA | -- |
GO:0006069 | ethanol oxidation | TAS | -- |
GO:0022900 | electron transport chain | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Disulfiram | Approved | Pharma | Target, inhibitor | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 49 | |
Ethanol | Approved | Pharma | 3266 | |||
Nitroglycerin | Approved, Investigational | Pharma | Enzyme, substrate | 229 | ||
NADH | Approved | Nutra | Target | 0 | ||
Amyl Nitrite | Approved | Pharma | Enzyme, substrate | 1 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(S)-Methylmalonic acid semialdehyde |
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99043-16-0 |
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2,5-Dioxopentanoate |
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2-Methyl-3-oxopropanoic acid |
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6236-08-4 |
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2-Propyn-1-al |
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3a,7a-Dihydroxy-5b-cholestan-26-al |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c |
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SP1: | |||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALDH2 30 |
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Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
ALDH2 30 |
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-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | ALDH2 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Aldh2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Aldh2 30 17 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
ALDH2 30 |
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Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aldh2 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | aldh2.2 31 |
|
ManyToMany | |
aldh2.1 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Aldh 30 31 |
|
OneToMany | |
CG3752 32 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003652 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | alh-1 30 |
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A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL044W 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C07777g 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALD5 30 33 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ALDH2B4 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU03415 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC9E9.09c 30 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10427 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714184 | Benign: not provided | 111,792,115(+) | T/C | SYNONYMOUS_VARIANT | |
722590 | Likely Benign: not provided | 111,781,924(+) | A/G | MISSENSE_VARIANT | |
728511 | Likely Benign: not provided | 111,799,896(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
732699 | Benign: not provided | 111,783,251(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
743525 | Likely Benign: not provided | 111,789,919(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1556n100 | CNV | gain | 25217958 |
dgv2874n54 | CNV | gain | 21841781 |
dgv304e214 | CNV | gain | 21293372 |
dgv514e212 | CNV | gain | 25503493 |
esv2760710 | CNV | gain | 21179565 |
esv3630767 | CNV | loss | 21293372 |
nsv455715 | CNV | gain | 19166990 |
nsv470317 | CNV | gain | 18288195 |
nsv515716 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alcohol sensitivity, acute |
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alcohol dependence |
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alcohol use disorder |
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alcoholic neuropathy |
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alcoholic liver cirrhosis |
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