Aliases for ALDH2 Gene
Aliases for ALDH2 Gene
External Ids for ALDH2 Gene
- HGNC: 404
- Entrez Gene: 217
- Ensembl: ENSG00000111275
- OMIM: 100650
- UniProtKB: P05091
Previous GeneCards Identifiers for ALDH2 Gene
- GC12P111101
- GC12P111726
- GC12P111987
- GC12P110616
- GC12P110667
- GC12P112205
- GC12P109217
Summaries 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 Alcohol Dependence. Among its related pathways are Drug metabolism - cytochrome P450 and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1B1.
-
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.
Additional gene information for ALDH2 Gene
- Monarch Initiative
- Search for ALDH2 at DataMed
- Search for ALDH2 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH2 Gene
Genomics for ALDH2 Gene
GeneHancer (GH) Regulatory Elements for ALDH2 Gene
Promoters and enhancers for ALDH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ALDH2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ALDH2 gene promoter:
-
- PPAR-alpha
- PPAR-gamma2
- PPAR-gamma1
- p53
- Sp1
- FOXJ2
- FOXJ2 (long isoform)
Regulatory Element Products
Genomic Locations for ALDH2 Gene
Genomic Locations for ALDH2 Gene
- chr12:111,766,887-111,817,529
- (GRCh38/hg38)
- Size:
- 50,643 bases
- Orientation:
- Plus strand
- chr12:112,204,691-112,247,789
- (GRCh37/hg19)
- Size:
- 43,099 bases
- Orientation:
- Plus strand
Genomic View for ALDH2 Gene
Genes around ALDH2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.12 by Entrez Gene
- 12q24.12 by HGNC
- 12q24.12 by Ensembl
ALDH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALDH2 Gene
Proteins for ALDH2 Gene
-
Protein details for ALDH2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P05091-ALDH2_HUMAN
- Recommended name:
- Aldehyde dehydrogenase, mitochondrial
- Protein Accession:
- P05091
- 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; Positions=424, 444, 448, 461; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ALDH2 Gene
Protein Expression for ALDH2 Gene
Post-translational modifications for ALDH2 Gene
Other Protein References for ALDH2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ALDH2
- Invitrogen Antibodies for ALDH2
- GeneTex ALDH2 Antibody for ALDH2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALDH2
Protein Products
-
OriGene Purified Proteins for ALDH2
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDH2
- Origene Custom Protein Services for ALDH2
- ProSpec Recombinant Proteins for ALDH2
- Search GeneTex for Proteins for ALDH2
Assay Products
No data available for DME Specific Peptides for ALDH2 Gene
Domains & Families for ALDH2 Gene
Gene Families for ALDH2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ALDH2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALDH2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P05091- Family:
-
- Belongs to the aldehyde dehydrogenase family.
Function for ALDH2 Gene
Molecular function for ALDH2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
- GENATLAS Biochemistry:
- aldehyde dehydrogenase 2,mitochondrial,E2 isoform
Enzyme Numbers (IUBMB) for ALDH2 Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for ALDH2 Gene
- MGI mutant phenotypes for ALDH2:
-
inferred from 5 alleles
- limbs/digits/tail phenotype
- pigmentation phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ALDH2:
-
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
- Increased viability
Animal Models for ALDH2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ALDH2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALDH2
-
CRISPR Products
-
OriGene CRISPR knockouts for ALDH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH2
- genomics-online: gRNA clones - Search results for available ALDH2 gene related products
- Applied Biological Materials CRISPR for ALDH2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH2
- GenScript: Design CRISPR guide RNA sequences for ALDH2
miRNA for ALDH2 Gene
- miRTarBase miRNAs that target ALDH2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ALDH2
- Browse OriGene Inhibitory RNA Products For ALDH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH2
- genomics-online: shRNA clones - Search results for available ALDH2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALDH2
- VectorBuilder custom plasmid, inducible vectors for ALDH2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALDH2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH2
- genomics-online: cdna clones - Search results for available ALDH2 gene related products
- orf clones - Search results for available ALDH2 gene related products
- Applied Biological Materials Clones for ALDH2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| cytosol | 3 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH2 Gene
Pathways & Interactions for ALDH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of tryptophan utilization | ||
| 2 | Cytochrome P450 - arranged by substrate type | ||
| 3 | Neurotransmitter Clearance In The Synaptic Cleft | ||
| 4 | ethanol degradation II | ||
| 5 | beta-Alanine metabolism (KEGG) | ||
Pathways by source for ALDH2 Gene
10 BioSystems pathways for ALDH2 Gene
9 Reactome pathways for ALDH2 Gene
2 PharmGKB pathways for ALDH2 Gene
12 KEGG pathways for ALDH2 Gene
1 GeneGo (Thomson Reuters) pathway for ALDH2 Gene
UniProtKB/Swiss-Prot P05091-ALDH2_HUMAN
- Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
Interacting Proteins for ALDH2 Gene
Selected Interacting proteins:
P05091-ALDH2_HUMAN
ENSP00000261733
for ALDH2 Gene via
IID
STRING
MINT
GPS-Prot Interaction Network for ALDH2
| 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:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for ALDH2 Gene
Drugs & Compounds for ALDH2 Gene
(54) 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 | inhibitor, Target | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 41 | |
| Nitroglycerin | Approved, Investigational | Pharma | Enzyme, substrate | 179 | ||
| NADH | Approved | Nutra | Target | 0 | ||
| Amyl Nitrite | Approved | Pharma | Enzyme, substrate | 1 | ||
| Guanidine | Approved | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (E)-2-Butenal |
|
123-73-9 | ||||
| (S)-Methylmalonic acid semialdehyde |
|
99043-16-0 |
|
|||
| 2,5-Dioxopentanoate |
|
|
||||
| 2-Methyl-3-oxopropanoic acid |
|
6236-08-4 |
|
|||
| 2-Propyn-1-al |
|
|
(4) Tocris Compounds for ALDH2 Gene
(3) ApexBio Compounds for ALDH2 Gene
Transcripts for ALDH2 Gene
mRNA/cDNA for ALDH2 Gene
- (2) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (651) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000261733 9569 bps (uc001tst.4)
- ENST00000416293 1572 bps (uc010syi.3)
- ENST00000548536 1760 bps (uc058tix.1)
- ENST00000549106 580 bps (uc058tiy.1)
- ENST00000551450 569 bps (uc058tiz.1)
Unigene Clusters for ALDH2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ALDH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH2
- genomics-online: gRNA clones - Search results for available ALDH2 gene related products
- Applied Biological Materials CRISPR for ALDH2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH2
- GenScript: Design CRISPR guide RNA sequences for ALDH2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ALDH2
- Browse OriGene Inhibitory RNA Products For ALDH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH2
- genomics-online: shRNA clones - Search results for available ALDH2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALDH2
- VectorBuilder custom plasmid, inducible vectors for ALDH2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALDH2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH2
- genomics-online: cdna clones - Search results for available ALDH2 gene related products
- orf clones - Search results for available ALDH2 gene related products
- Applied Biological Materials Clones for ALDH2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
Expression for ALDH2 Gene
mRNA differential expression in normal tissues according to GTEx for ALDH2 Gene
This gene is overexpressed in Liver (x7.0).
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
NURSA nuclear receptor signaling pathways regulating expression of ALDH2 Gene:
ALDH2SOURCE GeneReport for Unigene cluster for ALDH2 Gene:
Hs.604551Evidence on tissue expression from TISSUES for ALDH2 Gene
- Liver(4.9)
- Nervous system(4.9)
- Muscle(4.6)
- Heart(3.4)
- Lung(3.4)
- Intestine(3.2)
- Stomach(3.1)
- Blood(2.9)
- Kidney(2.9)
- Skin(2.8)
- Adrenal gland(2.4)
- Eye(2.2)
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
Primer Products
-
OriGene qPCR primer pairs and template standards for ALDH2
-
OriGene qPCR primer pairs for ALDH2
- genomics-online: primer clones - Search results for available ALDH2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALDH2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany | |
| ALDH2 33 |
|
||||
| -- 34 |
|
ManyToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | ALDH2 34 33 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | Aldh2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Aldh2 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| ALDH2 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aldh2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aldh2.2 34 |
|
ManyToMany | |
| aldh2.1 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Aldh 34 33 |
|
OneToMany | |
| CG3752 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003652 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | alh-1 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACL044W 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C07777g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALD5 36 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ALDH2B4 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03415 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC9E9.09c 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.10427 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.10427 33 |
|
- 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 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
Variants for ALDH2 Gene
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.
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs671 | pathogenic, protective, risk-factor, Acute alcohol sensitivity, Alcohol dependence, Susceptibility to hangover, Sublingual nitroglycerin, susceptibility to poor response to, Esophageal cancer, alcohol-related, susceptibility to | 111,803,962(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1000057878 | -- | 111,802,832(+) | A/G | intron_variant | |
| rs1000065244 | -- | 111,780,341(+) | A/G | intron_variant | |
| rs1000100310 | -- | 111,765,123(+) | C/A | upstream_transcript_variant | |
| rs1000171572 | -- | 111,766,663(+) | G/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv515716 | CNV | gain | 19592680 |
| nsv470317 | CNV | gain | 18288195 |
| nsv455715 | CNV | gain | 19166990 |
| esv3630767 | CNV | loss | 21293372 |
| esv2760710 | CNV | gain | 21179565 |
| dgv514e212 | CNV | gain | 25503493 |
| dgv304e214 | CNV | gain | 21293372 |
| dgv2874n54 | CNV | gain | 21841781 |
| dgv1556n100 | CNV | gain | 25217958 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for ALDH2 Gene
(22) MalaCards diseases for ALDH2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alcohol sensitivity, acute |
|
|
| alcohol dependence |
|
|
| alcoholic neuropathy |
|
|
| alcohol abuse |
|
|
| alcoholic liver cirrhosis |
|
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 of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot for ALDH2 Gene
Publications for ALDH2 Gene
- Absence of association on aldehyde dehydrogenase 2 (ALDH2) polymorphism with Mongolian Alzheimer patients. (PMID: 19914339) Zhou S … Ma X (Neuroscience letters 2010) 3 22 44 58
- Association of ALDH2 genotypes with periodontitis progression. (PMID: 20042735) Nishida N … Shizukuishi S (Journal of dental research 2010) 3 22 44 58
- Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PMID: 20205700) Linneberg A … Husemoen LL (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2010) 3 22 44 58
- The polymorphism in aldehyde dehydrogenase-2 gene is associated with elevated plasma levels of high-sensitivity C-reactive protein in the early phase of myocardial infarction. (PMID: 20467232) Bian Y … Zhang Y (The Tohoku journal of experimental medicine 2010) 3 22 44 58
- 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 22 44 58
Products for ALDH2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
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- Custom Antibody ServicesOriGene Antibodies for ALDH2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ALDH2
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDH2
- Origene Custom Protein Services for ALDH2
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ALDH2
- Browse OriGene Inhibitory RNA Products For ALDH2
- OriGene qPCR primer pairs and template standards for ALDH2
- OriGene qPCR primer pairs for ALDH2
- OriGene CRISPR knockouts for ALDH2
- OriGene ORF clones in human for ALDH2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ALDH2
- GenScript: Next-day shipping of latest version cDNA ORF clones for ALDH2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ALDH2
- GenScript Custom Assay Services for ALDH2
- GenScript Custom overexpressing Cell Line Services for ALDH2
- GenScript: Design CRISPR guide RNA sequences for ALDH2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ALDH2
- Sino Biological Human cDNA Clone for ALDH2
- Browse Sino Biological Recombinant Proteins
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- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ALDH2
- Novus Biologicals lysates and proteins for ALDH2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- ProSpec Recombinant Proteins for ALDH2
- Taconic Biosciences Mouse Models for ALDH2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ALDH2
- ApexBio compounds for ALDH2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALDH2
- VectorBuilder custom plasmid, inducible vectors for ALDH2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALDH2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 177 available ALDH2 Antibodies ranked by validation data
- Compare Top ALDH2 Antibodies
- antibodies-online: Search results for 27 available ALDH2 Elisa Kits ranked by validation data
- Compare Top ALDH2 Elisa Kits
- antibodies-online: Search results for 16 available ALDH2 Proteins ranked by validation data
- Compare Top ALDH2 Proteins
- GeneTex ALDH2 Antibody for ALDH2
- Search GeneTex for Proteins for ALDH2
- Santa Cruz Biotechnology (SCBT) Antibodies for ALDH2
- Search Santa Cruz Biotechnology (SCBT) for ALDH2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ALDH2
- Horizon Cell Lines for ALDH2
- genomics-online: cdna clones - Search results for available ALDH2 gene related products
- orf clones - Search results for available ALDH2 gene related products
- genomics-online: gRNA clones - Search results for available ALDH2 gene related products
- genomics-online: primer clones - Search results for available ALDH2 gene related products
- genomics-online: shRNA clones - Search results for available ALDH2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH2
- GeneCopoeia miRNA 3'UTR Target clone products for ALDH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH2
Sources for ALDH2 Gene
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- (8) Gene Wiki
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
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- (108) SCBT
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- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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