ALDH2 Gene (Protein Coding)

Aldehyde Dehydrogenase 2 Family Member

GC12P111766
GIFtS:
52
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 ... See more...

Aliases for ALDH2 Gene

Aliases for ALDH2 Gene

  • Aldehyde Dehydrogenase 2 Family Member 2 3 5
  • Aldehyde Dehydrogenase 2 Family (Mitochondrial) 2 3
  • Aldehyde Dehydrogenase, Mitochondrial 3 4
  • ALDH Class 2 3 4
  • EC 1.2.1.3 4 51
  • ALDH-E2 3 4
  • ALDHI 3 4
  • ALDM 3 4
  • Nucleus-Encoded Mitochondrial Aldehyde Dehydrogenase 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Acetaldehyde Dehydrogenase 2 3
  • Liver Mitochondrial ALDH 3
  • EC 1.2.1 51
  • ALDH2 5

External Ids for ALDH2 Gene

Previous GeneCards Identifiers for ALDH2 Gene

  • GC12P111101
  • GC12P111726
  • GC12P111987
  • GC12P110616
  • GC12P110667
  • GC12P112205
  • GC12P109217

Summaries for ALDH2 Gene

Entrez Gene Summary for ALDH2 Gene

  • 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]

GeneCards Summary for ALDH2 Gene

ALDH2 (Aldehyde Dehydrogenase 2 Family Member) is a Protein Coding gene. Diseases associated with ALDH2 include Alcohol Sensitivity, Acute and Amed Syndrome, Digenic. Among its related pathways are Neurotransmitter Clearance In The Synaptic Cleft and Cyclophosphamide Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1B1.

Tocris Summary for ALDH2 Gene

  • Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol oxidation.

Gene Wiki entry for ALDH2 Gene

Additional gene information for ALDH2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH2 Gene

Genomics for ALDH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALDH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J111766 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264.5 +0.6 585 3.3 ZBTB10 FEZF1 MNT IKZF1 NONO ZIC2 ZNF610 THAP11 ARNT SIN3A ALDH2 ATXN2 ADAM1A HECTD4 ENSG00000257767 MIR6761 MAPKAPK5
GH12J111765 Enhancer 0.4 ENCODE 250.7 -1.2 -1195 0.2 SPI1 ATF4 GATA2 ALDH2 lnc-ACAD10-2 ENSG00000257767
GH12J111740 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.4 -25.3 -25287 2 MNT IKZF1 HES1 ARNT ZNF395 NFATC3 VEZF1 NBN ZEB2 TAL1 ALDH2 HSALNG0094054 ENSG00000257767 piR-61945-108 ACAD10
GH12J111684 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.6 -81.2 -81174 3.4 TBP ZBTB10 SP1 MXD4 ZNF217 NR2C1 MNT IKZF1 SMAD5 ETS1 ACAD10 BRAP HSALNG0094051 ALDH2 TRAFD1 RPL6 ADAM1A HSPA8P14 RPS2P41 PCNPP1
GH12J111840 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.9 +75.3 75314 4 CHD2 TBP SP1 MXD4 SIX5 NR2C1 MNT DEK IKZF1 BRCA1 HSALNG0094064 MAPKAPK5 MAPKAPK5-AS1 ATXN2 HECTD4 RPS2P41 ALDH2 TRAFD1 TMEM116 RPL6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH2

Top Transcription factor binding sites by QIAGEN in the ALDH2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • p53
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for ALDH2 Gene

Latest Assembly
chr12:111,766,887-111,817,532
(GRCh38/hg38)
Size:
50,646 bases
Orientation:
Plus strand

Previous Assembly
chr12:112,204,737-112,255,336
(GRCh37/hg19 by Entrez Gene)
Size:
50,600 bases
Orientation:
Plus strand

chr12:112,204,691-112,247,782
(GRCh37/hg19 by Ensembl)
Size:
43,092 bases
Orientation:
Plus strand

Genomic View for ALDH2 Gene

Genes around ALDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ALDH2 Gene

Proteins for ALDH2 Gene

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  • Protein details for ALDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05091-ALDH2_HUMAN
    Recommended name:
    Aldehyde dehydrogenase, mitochondrial
    Protein Accession:
    P05091
    Secondary Accessions:
    • B4DW54
    • E7EUE5
    • Q03639
    • Q6IB13
    • Q6IV71

    Protein attributes for ALDH2 Gene

    Size:
    517 amino acids
    Molecular mass:
    56381 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA62825.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH2 Gene

    Alternative splice isoforms for ALDH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH2 Gene

Protein Expression for ALDH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALDH2 Gene

P05091:
  • QIIPWNFP
  • EFVERSVARA
  • GPTAGAAI
  • FTKDLDKA
  • WKLGPAL
  • DVDKVAFTGSTE
  • GPQVDETQ
  • VTLELGG
  • LADLIERD
  • EAGFPPGV
  • SDADMDWAVEQAHFALFFNQGQCC
  • YGLAAAVFTKDLDKANYLSQALQAGTVW
  • DVDKAVKAA
  • PWNFPLLM
  • EGAKLLCGG
  • AYTEVKTVT
  • RGRLLNRLADL
  • ALQAGTVW
  • GAAIASH
  • YGLAAAVFT
  • TLELGGK
  • PFGGYKMSG
  • AGSRTFV
  • KTFPTVNP
  • RYYAGWADK
  • PTVFGDVQDGM
  • ISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGD
  • QALQAGTVWVN
  • LGSPWRRMDAS
  • FFNQGQCC
  • VVMKVAEQTPL
  • AQSPFGG
  • YTEVKTVT
  • GVVNIVPG
  • NCYDVFGAQSPFGGYK
  • GDKEDVD

Post-translational modifications for ALDH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for ALDH2 Gene

Gene Families for ALDH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ALDH2 Gene

InterPro:
Blocks:
  • Aldehyde dehydrogenase
  • Pyrokinin
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH2 Gene

GenScript: Design optimal peptide antigens:
  • ALDHI (ALDH2_HUMAN)
  • ALDH2 (B0LUF9_HUMAN)
  • ALDH2 (B0LUG0_HUMAN)
  • ALDH2 (B0LUG2_HUMAN)
  • ALDH2 (B4YAH7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05091

UniProtKB/Swiss-Prot:

ALDH2_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH2: view

Function for ALDH2 Gene

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Molecular function for ALDH2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:16185, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.3;.
GENATLAS Biochemistry:
aldehyde dehydrogenase 2,mitochondrial,E2 isoform

Enzyme Numbers (IUBMB) for ALDH2 Gene

Phenotypes From GWAS Catalog for ALDH2 Gene

Gene Ontology (GO) - Molecular Function for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity TAS 8903321
GO:0009055 electron transfer activity TAS 8903321
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH2: view
genes like me logo Genes that share phenotypes with ALDH2: view

Human Phenotype Ontology for ALDH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH2 Gene

MGI Knock Outs for ALDH2:
  • Aldh2 Aldh2<tm1a(EUCOMM)Wtsi>
  • Aldh2 Aldh2<tm1Kaw>
  • Aldh2 Aldh2<tm1b(EUCOMM)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH2

No data available for Transcription Factor Targets and HOMER Transcription for ALDH2 Gene

Localization for ALDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH2 gene
Compartment Confidence
mitochondrion 5
extracellular 4
cytosol 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ALDH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH2 Gene

Pathways & Interactions for ALDH2 Gene

genes like me logo Genes that share pathways with ALDH2: view

UniProtKB/Swiss-Prot P05091-ALDH2_HUMAN

  • Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8903321
GO:0006066 alcohol metabolic process TAS 1306115
GO:0006068 ethanol catabolic process IEA --
GO:0006069 ethanol oxidation TAS --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with ALDH2: view

No data available for SIGNOR curated interactions for ALDH2 Gene

Drugs & Compounds for ALDH2 Gene

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(63) Drugs for ALDH2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma Target, inhibitor Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 53
Ethanol Approved Pharma 3481
Nitroglycerin Approved, Investigational Pharma Enzyme, substrate 242
NADH Approved Nutra Target 0
Amyl Nitrite Approved Pharma Enzyme, substrate 1

(64) Additional Compounds for ALDH2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
 99043-16-0
2,5-Dioxopentanoate
  • 2-Oxoglutarate semialdehyde
  • 2-Oxoglutaric acid semialdehyde
  • 2,5-Dioxopentanoic acid
  • 2,5-Dioxopentanoate
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 3-oxo-2-Methylpropanoate
  • Methylmalonate semialdehyde
  • 3-oxo-2-Methylpropanoic acid
  • Methylmalonic acid semialdehyde
 6236-08-4
2-Propyn-1-al
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
  • 2-Propyn-1-al
3a,7a-Dihydroxy-5b-cholestan-26-al
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al

(4) Tocris Compounds for ALDH2 Gene

Compound Action Cas Number
A37 ALDH1A1 inhibitor 896795-60-1
Alda 1 ALDH2 activator; cardioprotective 349438-38-6
CVT 10216 Potent and selective ALDH2 inhibitor 1005334-57-5
WIN 18446 ALDH1a2 inhibitor 1477-57-2

(3) ApexBio Compounds for ALDH2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator 349438-38-6
CVT 10216 1005334-57-5
WIN 18446 1477-57-2
genes like me logo Genes that share compounds with ALDH2: view

Drug products for research

Transcripts for ALDH2 Gene

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mRNA/cDNA for ALDH2 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH2

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1:
SP2: -
SP3: - - - -
SP4: -

Relevant External Links for ALDH2 Gene

GeneLoc Exon Structure for
ALDH2

Expression for ALDH2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALDH2 Gene

mRNA expression in normal human tissues for ALDH2 Gene
mRNA expression by BioGPS for ALDH2 GenemRNA expression by GTEx for ALDH2 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH2 Gene

This gene is overexpressed in Liver (x7.0).

Protein differential expression in normal tissues from HIPED for ALDH2 Gene

This gene is overexpressed in Liver (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH2 Gene



Protein tissue co-expression partners for ALDH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH2

SOURCE GeneReport for Unigene cluster for ALDH2 Gene:

Hs.604551

Evidence on tissue expression from TISSUES for ALDH2 Gene

  • Nervous system(4.9)
  • Liver(4.9)
  • Muscle(4.7)
  • Heart(4)
  • Intestine(3.5)
  • Lung(3.5)
  • Kidney(3.3)
  • Skin(3.3)
  • Stomach(3.2)
  • Blood(3)
  • Adrenal gland(2.8)
  • Eye(2.7)
  • Pancreas(2.5)
  • Spleen(2.4)
  • Bone marrow(2.4)
  • Thyroid gland(2.4)
  • Gall bladder(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Regions:
Head and neck:
  • face
  • head
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with ALDH2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALDH2 Gene

Orthologs for ALDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ALDH2 30
  • 99.69 (n)
Dog
(Canis familiaris)
 Mammalia -- 31
  • 93 (a)
 ManyToMany
ALDH2 30
  • 88.87 (n)
-- 31
  • 83 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 91 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia ALDH2 30 31
  • 89.5 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Aldh2 30
  • 88.24 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 88 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Aldh2 30 17 31
  • 86.82 (n)
 OneToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 84 (a)
 OneToMany
ALDH2 30
  • 76.55 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 81 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia aldh2 30
  • 72.81 (n)
Zebrafish
(Danio rerio)
 Actinopterygii aldh2.2 31
  • 77 (a)
 ManyToMany
aldh2.1 30
  • 72.04 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Aldh 30 31
  • 68.27 (n)
 OneToMany
CG3752 32
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003652 30
  • 67.59 (n)
Worm
(Caenorhabditis elegans)
 Secernentea alh-1 30
  • 61.75 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACL044W 30
  • 55.58 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C07777g 30
  • 52.1 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ALD5 30 33
  • 52.01 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ALDH2B4 30
  • 58.88 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU03415 30
  • 61.5 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC9E9.09c 30
  • 56.66 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.10427 30
Species where no ortholog for ALDH2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ALDH2 Gene

ENSEMBL:
Gene Tree for ALDH2 (if available)
TreeFam:
Gene Tree for ALDH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH2: view image

Paralogs for ALDH2 Gene

Paralogs for ALDH2 Gene

(13) SIMAP similar genes for ALDH2 Gene using alignment to 8 proteins:

  • ALDH2_HUMAN
  • B0LUF9_HUMAN
  • B0LUG0_HUMAN
  • B0LUG2_HUMAN
  • B4YAH7_HUMAN
  • F8VSB0_HUMAN
  • Q9UN17_HUMAN
  • S4R3S4_HUMAN
genes like me logo Genes that share paralogs with ALDH2: view

Variants for ALDH2 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH2 Gene

ALDH2_HUMAN-P05091
Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs13306164 Benign: not provided 111,783,251(+) C/T
NM_000690.4(ALDH2):c.313C>T (p.Leu105=) 		SYNONYMOUS_VARIANT,INTRON
rs141556759 Benign: not provided 111,799,980(+) G/A
NM_000690.4(ALDH2):c.1323G>A (p.Thr441=) 		SYNONYMOUS
rs141574314 Likely Benign: not provided 111,781,924(+) A/G
NM_000690.4(ALDH2):c.121A>G (p.Ile41Val) 		MISSENSE
rs150631941 Benign: not provided 111,792,115(+) T/C
NM_000690.4(ALDH2):c.850T>C (p.Leu284=) 		SYNONYMOUS
rs183108437 Likely Benign: not provided 111,799,896(+) C/T
NM_000690.4(ALDH2):c.1249-10C>T 		NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ALDH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ALDH2 Gene

Variant ID Type Subtype PubMed ID
dgv1556n100 CNV gain 25217958
dgv2874n54 CNV gain 21841781
dgv304e214 CNV gain 21293372
dgv514e212 CNV gain 25503493
esv2760710 CNV gain 21179565
esv3630767 CNV loss 21293372
nsv455715 CNV gain 19166990
nsv470317 CNV gain 18288195
nsv515716 CNV gain 19592680

Variation tolerance for ALDH2 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH2 Gene

Human Gene Mutation Database (HGMD)
ALDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH2

SNP Genotyping and Copy Number Assays for research

Disorders for ALDH2 Gene

MalaCards: The human disease database

(43) MalaCards diseases for ALDH2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
alcohol sensitivity, acute
  • hangover, susceptibility to
amed syndrome, digenic
  • ameds
alcohol dependence
  • alcoholism
alcohol use disorder
  • alcohol abuse
alcoholic neuropathy
  • alcohol-related polyneuropathy
- elite association - COSMIC cancer census association via MalaCards
Search ALDH2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for ALDH2 Gene

facial flushing reaction to alcohol

Additional Disease Information for ALDH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ALDH2: view

No data available for UniProtKB/Swiss-Prot for ALDH2 Gene

Publications for ALDH2 Gene

  1. Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. (PMID: 20010786) Ding JH … Yao GH (Journal of human genetics 2010) 3 23 41 74
  2. Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. (PMID: 16440063) Li Y … Jin L (The Journal of clinical investigation 2006) 3 23 41 74
  3. Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. (PMID: 15654505) Liu Y … Tsugane S (Journal of human genetics 2005) 3 23 41 74
  4. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. (PMID: 2987944) Hsu LC … Yoshida A (Proceedings of the National Academy of Sciences of the United States of America 1985) 2 3 4 74
  5. ALDH2 genetic polymorphism and the risk of type II diabetes mellitus in CAD patients. (PMID: 19876063) Xu F … Zhang Y (Hypertension research : official journal of the Japanese Society of Hypertension 2010) 3 23 41

ExternalLinks

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