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

Summary

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 NADH binding activity; aldehyde dehydrogenase (NAD+) activity; and identical protein binding activity. Predicted to be involved in several processes, including behavioral response to ethanol; cellular detoxification of aldehyde; and intrinsic apoptotic signaling pathway in response to oxidative stress. 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 use disorder; artery disease (multiple); diabetes mellitus (multiple); diabetic neuropathy; and liver disease (multiple). Orthologous to human ALDH2 (aldehyde dehydrogenase 2 family member). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
LncRNA CHKB-DT Downregulation Enhances Dilated Cardiomyopathy Through ALDH2.
Title: LncRNA CHKB-DT Downregulation Enhances Dilated Cardiomyopathy Through ALDH2.
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.
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.
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.
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.
A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators.
Title: A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators.
ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy.
Title: ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy.
[Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury].
Title: [Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury].

Submit: New GeneRIF Correction See all GeneRIFs (128)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (8) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U07235 (e-PCR)
- UniSTS:179255

ALDH2 (e-PCR)
- UniSTS:266605

Aldh2 (e-PCR), detects polymorphism
- UniSTS:461949

ksks393 (e-PCR)
- UniSTS:514445

Aldh2 (e-PCR), detects polymorphism
- UniSTS:527246

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 carboxylesterase activity	ISO Inferred from Sequence Orthology more info
enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables nitroglycerin reductase activity	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation 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 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 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 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	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: aldehyde dehydrogenase, mitochondrial

Names: ALDH class 2

NP_001295379.1

EC 1.2.1.3

NP_033786.1

EC 1.2.1.3

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)

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
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