ALDH2 (aldehyde dehydrogenase 2 family member)

Gene

• Entrez ID: 217
• Gene name: Aldehyde dehydrogenase 2 family member
• Gene symbol: ALDH2
• Synonyms: ALDH-E2, ALDHI, ALDM
• Chromosome: 12
• Chromosome location: 12q24.12
• 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 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs671	G>A	Drug-response, protective, risk-factor	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016754	hsa-miR-335-5p	Microarray	18185580
MIRT023536	hsa-miR-1-3p	Proteomics	18668040
MIRT031438	hsa-miR-16-5p	Proteomics	18668040
MIRT039939	hsa-miR-615-3p	CLASH	23622248
MIRT519122	hsa-miR-640	PAR-CLIP	23446348
MIRT519123	hsa-miR-4765	PAR-CLIP	23446348
MIRT519124	hsa-miR-6821-3p	PAR-CLIP	23446348
MIRT519125	hsa-miR-6790-3p	PAR-CLIP	23446348
MIRT519126	hsa-miR-4638-5p	PAR-CLIP	23446348
MIRT519127	hsa-miR-8079	PAR-CLIP	23446348
MIRT519128	hsa-miR-1245a	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA	21873635
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	4015840
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	TAS	8903321
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005975	Process	Carbohydrate metabolic process	TAS	8903321
GO:0006066	Process	Alcohol metabolic process	TAS	1306115
GO:0006068	Process	Ethanol catabolic process	IEA
GO:0006069	Process	Ethanol oxidation	TAS
GO:0009055	Function	Electron transfer activity	TAS	8903321
GO:0022900	Process	Electron transport chain	IEA
GO:0043878	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA
GO:0051287	Function	NAD binding	ISS	12693930
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 100650
• HGNC: 404
• e!Ensembl: ENSG00000111275

Protein

• UniProt ID: P05091
• Protein name: Aldehyde dehydrogenase, mitochondrial (EC 1.2.1.3) (ALDH class 2) (ALDH-E2) (ALDHI)
• PDB: 1CW3, 1NZW, 1NZX, 1NZZ, 1O00, 1O01, 1O02, 1O04, 1O05, 1ZUM, 2ONM, 2ONN, 2ONO, 2ONP, 2VLE, 3INJ, 3INL, 3N80, 3N81, 3N82, 3N83, 3SZ9, 4FQF, 4FR8, 4KWF, 4KWG, 5L13
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	45 → 508	Aldehyde dehydrogenase family	Family

• Sequence:

  MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPS
  TGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLA
  ALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCG
  QIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG
  FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADM
  DWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGP
  QVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGP
  VMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS
  PFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS

• Sequence length: 517