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    Aldh2 aldehyde dehydrogenase 2, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 11669, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Aldh2provided by MGI
    Official Full Name
    aldehyde dehydrogenase 2, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:99600
    See related
    Ensembl:ENSMUSG00000029455 AllianceGenome:MGI:99600
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ahd5; ALDHI; Ahd-5; AHD-M1; ALDH-E2
    Summary
    Predicted to enable several functions, including NADH binding activity; carboxylesterase activity; and phenylacetaldehyde dehydrogenase (NAD+) activity. Involved in regulation of dopamine biosynthetic process and regulation of serotonin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; alcohol use disorder; artery disease (multiple); diabetes mellitus (multiple); and liver disease (multiple). Orthologous to human ALDH2 (aldehyde dehydrogenase 2 family member). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 574.9), liver adult (RPKM 432.0) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aldh2 in Genome Data Viewer
    Location:
    5 F; 5 61.86 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (121704090..121731887, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (121566027..121593824, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene a disintegrin and metallopeptidase domain 1a Neighboring gene MAP kinase-activated protein kinase 5 Neighboring gene STARR-seq mESC enhancer starr_14259 Neighboring gene STARR-positive B cell enhancer ABC_E9092 Neighboring gene STARR-positive B cell enhancer ABC_E11301 Neighboring gene STARR-seq mESC enhancer starr_14260 Neighboring gene STARR-seq mESC enhancer starr_14261 Neighboring gene acyl-Coenzyme A dehydrogenase family, member 12 Neighboring gene acyl-Coenzyme A dehydrogenase family, member 10 Neighboring gene BRCA1 associated protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Protective effects of Alda-1, an ALDH2 activator, on alcohol-derived DNA damage in the esophagus of human ALDH2*2 (Glu504Lys) knock-in mice. Hirohashi K, et al. Carcinogenesis, 2020 Apr 22. PMID 31074772, Free PMC Article
    2. Increased formation of gastric N(2)-ethylidene-2'-deoxyguanosine DNA adducts in aldehyde dehydrogenase-2 knockout mice treated with ethanol. Nagayoshi H, et al. Mutat Res, 2009 Feb 19. PMID 19101651
    3. Cortical bone loss due to skeletal unloading in aldehyde dehydrogenase 2 gene knockout mice is associated with decreased PTH receptor expression in osteocytes. Tajima T, et al. Bone, 2018 May. PMID 29482068
    4. ALDH2 protects against alcoholic cardiomyopathy through a mechanism involving the p38 MAPK/CREB pathway and local renin-angiotensin system inhibition in cardiomyocytes. Liu B, et al. Int J Cardiol, 2018 Apr 15. PMID 29506687
    5. Protective effect of ALDH2 against cyclophosphamide-induced acute hepatotoxicity via attenuating oxidative stress and reactive aldehydes. Zhai X, et al. Biochem Biophys Res Commun, 2018 Apr 30. PMID 29524404

    See all (231) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aldehyde Dehydrogenase 2 Deficiency Aggravates Lung Fibrosis through Mitochondrial Dysfunction and Aging in Fibroblasts.
      Title: Aldehyde Dehydrogenase 2 Deficiency Aggravates Lung Fibrosis through Mitochondrial Dysfunction and Aging in Fibroblasts.
    2. Mitochondrial aldehyde dehydrogenase rescues against diabetic cardiomyopathy through GSK3beta-mediated preservation of mitochondrial integrity and Parkin-mediated mitophagy.
      Title: Mitochondrial aldehyde dehydrogenase rescues against diabetic cardiomyopathy through GSK3β-mediated preservation of mitochondrial integrity and Parkin-mediated mitophagy.
    3. Neutrophil ALDH2 is a new therapeutic target for the effective treatment of sepsis-induced ARDS.
      Title: Neutrophil ALDH2 is a new therapeutic target for the effective treatment of sepsis-induced ARDS.
    4. Aldehyde dehydrogenase 2 serves as a key cardiometabolic adaptation regulator in response to plateau hypoxia in mice.
      Title: Aldehyde dehydrogenase 2 serves as a key cardiometabolic adaptation regulator in response to plateau hypoxia in mice.
    5. Aldehyde Dehydrogenase 2 (ALDH2) Deficiency, Obesity, and Atrial Fibrillation Susceptibility: Unraveling the Connection.
      Title: Aldehyde Dehydrogenase 2 (ALDH2) Deficiency, Obesity, and Atrial Fibrillation Susceptibility: Unraveling the Connection.
    6. LncRNA CHKB-DT Downregulation Enhances Dilated Cardiomyopathy Through ALDH2.
      Title: LncRNA CHKB-DT Downregulation Enhances Dilated Cardiomyopathy Through ALDH2.
    7. ALDH2 deficiency exacerbates MCD-diet induced MASLD by modulating bile acid metabolism.
      Title: ALDH2 deficiency exacerbates MCD-diet induced MASLD by modulating bile acid metabolism.
    8. Aldehyde dehydrogenase 2 deficiency reinforces formaldehyde-potentiated pro-inflammatory responses and glycolysis in macrophages.
      Title: Aldehyde dehydrogenase 2 deficiency reinforces formaldehyde-potentiated pro-inflammatory responses and glycolysis in macrophages.
    9. ALDH2 mitigates LPS-induced cardiac dysfunction, inflammation, and apoptosis through the cGAS/STING pathway.
      Title: ALDH2 mitigates LPS-induced cardiac dysfunction, inflammation, and apoptosis through the cGAS/STING pathway.
    10. Aldehyde dehydrogenase 2-mediated aldehyde metabolism promotes tumor immune evasion by regulating the NOD/VISTA axis.
      Title: Aldehyde dehydrogenase 2-mediated aldehyde metabolism promotes tumor immune evasion by regulating the NOD/VISTA axis.
    Submit: New GeneRIF Correction See all GeneRIFs (131)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables NAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables NADH binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables carboxylesterase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carboxylesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phenylacetaldehyde dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetaldehyde metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in aldehyde catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in aldehyde catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in behavioral response to ethanol ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular detoxification of aldehyde ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ethanol catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nitroglycerin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of dopamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of serotonin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to organic cyclic compound ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    aldehyde dehydrogenase, mitochondrial
    Names
    ALDH class 2
    NP_001295379.1
    NP_033786.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001308450.1 → NP_001295379.1  aldehyde dehydrogenase, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate 3' exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AK043506, AK165032, CO039039
      Consensus CDS
      CCDS84951.1
      UniProtKB/TrEMBL
      A0A0G2JEU1, Q3TVM2, Q3U6I3, Q3U9J7
      Related
      ENSMUSP00000142906.2, ENSMUST00000129753.8
      Conserved Domains (1) summary
      cd07141
      Location:33 → 471
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

    2. NM_009656.4 → NP_033786.1  aldehyde dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_033786.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK163452, AK165032, AW050084
      Consensus CDS
      CCDS19638.1
      UniProtKB/Swiss-Prot
      P47738
      UniProtKB/TrEMBL
      Q3TVM2, Q3U6I3, Q3U9J7, Q544B1
      Related
      ENSMUSP00000031411.9, ENSMUST00000031411.15
      Conserved Domains (2) summary
      cd07141
      Location:33 → 513
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
      PLN02466
      Location:3 → 518
      PLN02466; aldehyde dehydrogenase family 2 member

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      121704090..121731887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47738.1 GenPept UniProtKB/Swiss-Prot:P47738

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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