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

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; AllianceGenome:HGNC:404
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: mouse all
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Genomic context

Location:: 12q24.12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (111766933..111817532)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (111743846..111794443)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (112204737..112255336)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Asian flush gene variant increases mild cognitive impairment risk: a cross-sectional study of the Yoshinogari Brain MRI Checkup Cohort.
Title: Asian flush gene variant increases mild cognitive impairment risk: a cross-sectional study of the Yoshinogari Brain MRI Checkup Cohort.
Activation of mitochondrial aldehyde dehydrogenase 2 promotes hair growth in human hair follicles.
Title: Activation of mitochondrial aldehyde dehydrogenase 2 promotes hair growth in human hair follicles.
Associations of ADH1B and ALDH2 genotypes and alcohol flushing with drinking history, withdrawal symptoms, and ICD-10 criteria in Japanese alcohol-dependent men.
Title: Associations of ADH1B and ALDH2 genotypes and alcohol flushing with drinking history, withdrawal symptoms, and ICD-10 criteria in Japanese alcohol-dependent men.
Multi-Omics profiling identifies aldehyde dehydrogenase 2 as a critical mediator in the crosstalk between Treg-mediated immunosuppression microenvironment and hepatocellular carcinoma.
Title: Multi-Omics profiling identifies aldehyde dehydrogenase 2 as a critical mediator in the crosstalk between Treg-mediated immunosuppression microenvironment and hepatocellular carcinoma.
Exploring patterns of alcohol use and alcohol use disorder among Asian Americans with a finer lens.
Title: Exploring patterns of alcohol use and alcohol use disorder among Asian Americans with a finer lens.
Research Progress on the Correlation between Acetaldehyde Dehydrogenase 2 and Hepatocellular Carcinoma Development.
Title: Research Progress on the Correlation between Acetaldehyde Dehydrogenase 2 and Hepatocellular Carcinoma Development.
To determine the frequency of aldehyde dehydrogenase type 2 (aldh2) deficiency in aplastic anaemia: A single center experience from pakistan.
Title: To determine the frequency of aldehyde dehydrogenase type 2 (aldh2) deficiency in aplastic anaemia: A single center experience from pakistan.
The ALDH2 gene rs671 polymorphism is associated with cardiometabolic risk factors in East Asian population: an updated meta-analysis.
Title: The ALDH2 gene rs671 polymorphism is associated with cardiometabolic risk factors in East Asian population: an updated meta-analysis.
The aldehyde dehydrogenase 2 rs671 variant enhances amyloid beta pathology.
Title: The aldehyde dehydrogenase 2 rs671 variant enhances amyloid β pathology.
Aldehyde Dehydrogenase 2 (ALDH2) rs671 Polymorphism is a Predictor of Pulmonary Hypertension Due to Left Heart Disease.
Title: Aldehyde Dehydrogenase 2 (ALDH2) rs671 Polymorphism is a Predictor of Pulmonary Hypertension Due to Left Heart Disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alcohol sensitivity, acute MedGen: C2674838 OMIM: 610251 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

119668 (e-PCR)
- UniSTS:93194

SHGC-82299 (e-PCR)
- UniSTS:104240

GDB:636036 (e-PCR)
- UniSTS:158517

ALDH2 (e-PCR)
- UniSTS:266605

D12S1884 (e-PCR)
- UniSTS:45202

G44358 (e-PCR)
- UniSTS:95145

GDB:179565 (e-PCR)
- UniSTS:155050

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info	PubMed
enables carboxylesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables phenylacetaldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in alcohol metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in aldehyde catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in ethanol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in nitroglycerin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of dopamine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of serotonin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 1.2.1.3

NP_001191818.1

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.

Genomic

NG_012250.2 RefSeqGene

Range

5047..55646

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000690.4 → NP_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)

AC003029, BC002967, CB851683, DC353712

Consensus CDS

CCDS9155.1

UniProtKB/Swiss-Prot

B4DW54, E7EUE5, P05091, Q03639, Q6IB13, Q6IV71

UniProtKB/TrEMBL

A0A384NPN7, Q53FB6

Related

ENSP00000261733.2, ENST00000261733.7

Conserved Domains (1) summary

cd07141
Location:31 → 511

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_001204889.2 → NP_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)

AC003029, AK301375, BC002967, CB851683, DC353712

Consensus CDS

CCDS55885.1

UniProtKB/TrEMBL

Q53FB6

Related

ENSP00000403349.3, ENST00000416293.7

Conserved Domains (1) summary

cd07141
Location:31 → 464

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like