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Aldh2 Gene Detail
Summary
  • Symbol
    Aldh2
  • Name
    aldehyde dehydrogenase 2, mitochondrial
  • Synonyms
    Ahd5, Ahd-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:99600
    NCBI Gene: 11669
  • Gene Overview
    MyGene.info: ALDH2
Location & Maps
more
  • Sequence Map
    Chr5:121566027-121593824 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27798 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 61.86 cM, cytoband F-G1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ALDH2, aldehyde dehydrogenase 2 family (mitochondrial)
  • Vertebrate Orthologs
    12
  • Human Ortholog
    ALDH2, aldehyde dehydrogenase 2 family (mitochondrial)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALDH-E2, ALDHI, ALDM
  • Links
    NCBI Gene ID: 217
    neXtProt AC: NX_P05091

  • Chr Location
    12q24.2; chr12:111766887-111809985 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ALDH2 associations

Human Disease Mouse Models
       Alcohol Sensitivity, Acute   OMIM: 610251
Aldehyde Dehydrogenase 2 Family; ALDH2   OMIM: 100650
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 6 alleles in 8 genetic backgrounds
    43 phenotypes from multigenic genotypes
    3 images
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    30
  • Chemically induced (other)
    1
  • Gene trapped
    21
  • Radiation induced
    1
  • Targeted
    6
  • Transgenic
    1
  • Genomic Mutations
    2 involving Aldh2
  • Incidental Mutations
Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023440 VEGA Gene Model | MGI Sequence Detail 27798 C57BL/6J ±  kb
transcript OTTMUST00000056973 VEGA | MGI Sequence Detail 3867 Not Applicable  
polypeptide OTTMUSP00000027439 VEGA | MGI Sequence Detail 519 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    213 from dbSNP Build 142
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000003925 aldehyde dehydrogenase, mitochondrial
  • EC
  • InterPro Domains
    IPR016163 Aldehyde dehydrogenase, C-terminal
    IPR016160 Aldehyde dehydrogenase, cysteine active site
    IPR015590 Aldehyde dehydrogenase domain
    IPR029510 Aldehyde dehydrogenase, glutamic acid active site
    IPR016162 Aldehyde dehydrogenase N-terminal domain
    IPR016161 Aldehyde/histidinol dehydrogenase
Molecular
Reagents
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  • All nucleic 617
    Genomic 4
    cDNA 611
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-1210, MGD-MRK-1217, MGD-MRK-16382
References
more
  • Summaries
    All 77
    Developmental Gene Expression 8
    Diseases 3
    Gene Ontology 8
    Phenotypes 38
  • Earliest
    J:32774 Algar EM, et al., Aldehyde Dehydrogenase (Ahd). Mouse News Lett. 1985;72:101-102
  • Latest
    J:223796 Jin S, et al., ALDH2(E487K) mutation increases protein turnover and promotes murine hepatocarcinogenesis. Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):9088-93

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory