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ALDH2 aldehyde dehydrogenase 2 family member [ Homo sapiens (human) ]

Gene ID: 217, updated on 28-Oct-2018

Summary

Official Symbol
ALDH2provided by HGNC
Official Full Name
aldehyde dehydrogenase 2 family memberprovided by HGNC
Primary source
HGNC:HGNC:404
See related
Ensembl:ENSG00000111275 MIM:100650; Vega:OTTHUMG00000169603
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALDM; ALDHI; ALDH-E2
Summary
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]
Expression
Broad expression in fat (RPKM 510.6), liver (RPKM 492.8) and 19 other tissues See more
Orthologs

Genomic context

See ALDH2 in Genome Data Viewer
Location:
12q24.12
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (111766887..111809985)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112204691..112247789)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRCA1 associated protein Neighboring gene PEST containing nuclear protein pseudogene 1 Neighboring gene acyl-CoA dehydrogenase family member 10 Neighboring gene microRNA 6761 Neighboring gene MAPKAPK5 antisense RNA 1 Neighboring gene mitogen-activated protein kinase-activated protein kinase 5 Neighboring gene ribosomal protein S2 pseudogene 41

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acute alcohol sensitivity
MedGen: C2674838 OMIM: 610251 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
NHGRI GWA Catalog
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
NHGRI GWA Catalog
A genome-wide association study of a coronary artery disease risk variant.
NHGRI GWA Catalog
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
NHGRI GWA Catalog
ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.
NHGRI GWA Catalog
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
NHGRI GWA Catalog
Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.
NHGRI GWA Catalog
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
NHGRI GWA Catalog
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
NHGRI GWA Catalog
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
NHGRI GWA Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of coronary artery disease in the Japanese.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ACAD10

Homology

Clone Names

  • MGC1806

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
aldehyde dehydrogenase (NAD) activity EXP
Inferred from Experiment
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
aldehyde dehydrogenase [NAD(P)+] activity TAS
Traceable Author Statement
more info
PubMed 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
alcohol metabolic process TAS
Traceable Author Statement
more info
PubMed 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
ethanol catabolic process IEA
Inferred from Electronic Annotation
more info
 
ethanol oxidation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aldehyde dehydrogenase, mitochondrial
Names
ALDH class 2
acetaldehyde dehydrogenase 2
aldehyde dehydrogenase 2 family (mitochondrial)
epididymis secretory sperm binding protein
liver mitochondrial ALDH
nucleus-encoded mitochondrial aldehyde dehydrogenase 2
NP_000681.2
NP_001191818.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012250.1 RefSeqGene

    Range
    5346..48444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000690.3NP_000681.2  aldehyde dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000681.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC002967, CB851683, DC353712
    Consensus CDS
    CCDS9155.1
    UniProtKB/Swiss-Prot
    P05091
    Related
    ENSP00000261733.2, OTTHUMP00000241662, ENST00000261733.6, OTTHUMT00000405008
    Conserved Domains (1) summary
    cd07141
    Location:31511
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
  2. NM_001204889.1NP_001191818.1  aldehyde dehydrogenase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AK301375, BC002967, CB851683, DC353712
    Consensus CDS
    CCDS55885.1
    UniProtKB/Swiss-Prot
    P05091
    Related
    ENSP00000403349.3, OTTHUMP00000241661, ENST00000416293.7, OTTHUMT00000405007
    Conserved Domains (1) summary
    cd07141
    Location:31464
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    111766887..111809985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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