Version 5.4
| Homo sapiens Gene: ALDH2 | |||||||||||||||||||||
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| 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)
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||
| Genomic Location | Chromosome 12:111766887-111809985 | ||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||
| Band | q24.12 | ||||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||
| NETPATH | |||||||||||||||||||||
| REACTOME |
Ethanol oxidation pathway
Metabolism of serotonin pathway
Neurotransmitter Clearance In The Synaptic Cleft pathway
Neuronal System pathway
Serotonin clearance from the synaptic cleft pathway
Transmission across Chemical Synapses pathway
Metabolism pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
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| KEGG |
Glycolysis / Gluconeogenesis pathway
Histidine metabolism pathway
Pyruvate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Arginine and proline metabolism pathway
Tryptophan metabolism pathway
Pentose and glucuronate interconversions pathway
Fatty acid degradation pathway
Lysine degradation pathway
Ascorbate and aldarate metabolism pathway
beta-Alanine metabolism pathway
Glycerolipid metabolism pathway
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| INOH |
Tryptophan degradation pathway
Propanoate metabolism pathway
Arginine Proline metabolism pathway
Pyruvate metabolism pathway
Valine Leucine Isoleucine degradation pathway
Lysine degradation pathway
Histidine degradation pathway
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| PID NCI | |||||||||||||||||||||
| Cross-References | |||||||||||||||||||||
| SwissProt | P05091 | ||||||||||||||||||||
| TrEMBL | B0LUF9 B4YAH7 Q9UN17 | ||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||
| Entrez Gene | 217 | ||||||||||||||||||||
| UniGene | Hs.604551 | ||||||||||||||||||||
| RefSeq | NM_000690 NM_001204889 | ||||||||||||||||||||
| HUGO | HGNC:404 | ||||||||||||||||||||
| OMIM | 100650 | ||||||||||||||||||||
| CCDS | CCDS9155 CCDS55885 | ||||||||||||||||||||
| HPRD | 00003 | ||||||||||||||||||||
| 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 | ||||||||||||||||||||