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aldehyde dehydrogenase 2 family member

Summary

Gene Symbol

ALDH2

Organism

Homo sapiens (human)

External Links

NCBI Gene

217

HGNC

404

KEGG Gene ID

hsa:217

PubChem

217

Alliance of Genome Resources

HGNC:404

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Direct protein sequencing
Disease variant
Dwarfism
Intellectual disability
Mitochondrion
NAD
Oxidoreductase
Reference proteome
Transit peptide
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A384NPN7	ALDH class 2 ALDH-E2
P05091	ALDH class 2 ALDH-E2 ALDHI

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
ethanol catabolic process	IEA
regulation of dopamine biosynthetic process	ISS
carbohydrate metabolic process	TAS	8903321
alcohol metabolic process	TAS	1306115
aldehyde catabolic process	IDA	20062057 27521998

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

cellular catabolic process [inference]

aldehyde catabolic process

small molecule catabolic process [inference]

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

organic substance catabolic process [inference]

aldehyde catabolic process

organic hydroxy compound catabolic process [inference]

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

cellular metabolic process [inference]

cellular aldehyde metabolic process [inference]

aldehyde catabolic process

cellular catabolic process [inference]

aldehyde catabolic process

primary metabolic process [inference]

carbohydrate metabolic process

small molecule metabolic process [inference]

alcohol metabolic process

primary alcohol metabolic process [inference]

ethanol metabolic process [inference]

ethanol catabolic process

primary alcohol catabolic process [inference]

ethanol catabolic process

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

small molecule catabolic process [inference]

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process

cellular aldehyde metabolic process [inference]

aldehyde catabolic process

organic substance catabolic process [inference]

aldehyde catabolic process

organic hydroxy compound catabolic process [inference]

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process

primary alcohol metabolic process [inference]

ethanol metabolic process [inference]

ethanol catabolic process

primary alcohol catabolic process [inference]

ethanol catabolic process

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

organic hydroxy compound catabolic process [inference]

alcohol catabolic process [inference]

primary alcohol catabolic process [inference]

ethanol catabolic process

cellular process [inference]

cellular metabolic process [inference]

cellular aldehyde metabolic process [inference]

aldehyde catabolic process

cellular catabolic process [inference]

aldehyde catabolic process

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of catecholamine metabolic process [inference]

regulation of dopamine metabolic process [inference]

regulation of dopamine biosynthetic process

regulation of nitrogen compound metabolic process [inference]

regulation of amine metabolic process [inference]

regulation of catecholamine metabolic process [inference]

regulation of dopamine metabolic process [inference]

regulation of dopamine biosynthetic process

regulation of serotonin biosynthetic process

regulation of primary metabolic process [inference]

regulation of catecholamine metabolic process [inference]

regulation of dopamine metabolic process [inference]

regulation of dopamine biosynthetic process

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of catecholamine metabolic process [inference]

regulation of dopamine metabolic process [inference]

regulation of dopamine biosynthetic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
mitochondrial matrix	TAS
mitochondrion	ISS
extracellular exosome	HDA	19056867

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

mitochondrion

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

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GO Term	Evidence Code	PMID
electron transfer activity	TAS	8903321
aldehyde dehydrogenase [NAD(P)+] activity	TAS	8903321
carboxylesterase activity	IDA	19506075
nitroglycerin reductase activity	IDA	19506075
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

electron transfer activity

oxidoreductase activity, acting on other nitrogenous compounds as donors [inference]

oxidoreductase activity, acting on other nitrogenous compounds as donors, oxygen as acceptor [inference]

nitroglycerin reductase activity

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

aldehyde dehydrogenase [NAD(P)+] activity

aldehyde dehydrogenase (NAD+) activity

phenylacetaldehyde dehydrogenase activity

glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

carboxylic ester hydrolase activity [inference]

carboxylesterase activity

binding [inference]

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NAD binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NAD binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000111275

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00128

Name

aldehyde dehydrogenase (NAD+) [EC:1.2.1.3]

References

Rhea

RHEA:25294

acetaldehyde + H₂O + NAD⁺

H⁺ + acetate + NADH

Enzyme

1.2.1.3

PMID

RHEA:16185

H₂O + an aldehyde + NAD⁺

H⁺ + a carboxylate + NADH

Enzyme

PMID

Disease

Disease Ontology

Displaying entries **31 - 40** of **268** in total

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DO ID	Disease Name	Source
DOID:0110633	rigid spine muscular dystrophy 1	DisGeNET
DOID:0110634	congenital muscular dystrophy 1B	DisGeNET
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5	DisGeNET
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A	DisGeNET
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6	DisGeNET
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency	DisGeNET
DOID:0110640	congenital muscular dystrophy due to LMNA mutation	DisGeNET
DOID:0110741	type 1 diabetes mellitus 2	DisGeNET
DOID:0110742	type 1 diabetes mellitus 3	DisGeNET
DOID:0110743	type 1 diabetes mellitus 4	DisGeNET

The Human Phenotype Ontology

Displaying **all 3** entries
HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0001033	Facial flushing after alcohol intake
HP:0003533	Reduced acetaldehyde dehydrogenase level

Displaying 1 entry
Disease ID	Disease Name
OMIM:610251	alcohol sensitivity, acute

PubChem Disease

MedGen Diseases

Alcohol sensitivity, acute

OMIM Phenotypes

ALCOHOL SENSITIVITY, ACUTE

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002629
Gene Name: aldehyde dehydrogenase 2 family (mitochondrial)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175691	WB:WBGene00000107
Caenorhabditis elegans	187001	WB:WBGene00000108
Drosophila melanogaster	34256	FB:FBgn0012036
Ciona intestinalis	100183764		CIOIN06299
Callorhinchus milii	103184053		CALMI28867
Latimeria chalumnae	102360306		LATCH13347
Danio rerio	368239	ZFIN:ZDB-GENE-030326-5	DANRE37350
Danio rerio	393462	ZFIN:ZDB-GENE-040426-1262	DANRE37519
Danio rerio	100536795	ZFIN:ZDB-GENE-030131-8536	DANRE37350
Ictalurus punctatus	100304853		ICTPU17388

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements