ALDH2

Gene Name		aldehyde dehydrogenase 2 family (mitochondrial)
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Gene Ontology Annotations	Cellular Component	Mitochondrial Matrix Extracellular Vesicular Exosome
	Molecular Function	Aldehyde Dehydrogenase (NAD) Activity Aldehyde Dehydrogenase [NAD(P)+] Activity Electron Carrier Activity
	Biological Process	Carbohydrate Metabolic Process Alcohol Metabolic Process Ethanol Catabolic Process Ethanol Oxidation Xenobiotic Metabolic Process Synaptic Transmission Neurotransmitter Biosynthetic Process Small Molecule Metabolic Process
Pathways		Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Metabolic disorders of biological oxidation enzymes Ethanol oxidation Phase 1 - Functionalization of compounds Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Biological oxidations Serotonin clearance from the synaptic cleft Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Defective FMO3 causes Trimethylaminuria (TMAU) Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Metabolism of serotonin Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Defective CYP1B1 causes Glaucoma Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Neurotransmitter Clearance In The Synaptic Cleft Defective MAOA causes Brunner syndrome (BRUNS) Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Transmission across Chemical Synapses
Drugs		NADH Guanidine Disulfiram Nicotinamide-Adenine-Dinucleotide Daidzin Crotonaldehyde
Diseases
GWAS		Alcohol consumption ( 21270382) Blood pressure ( 21572416) Coronary heart disease ( 23364394 21971053) Drinking behavior ( 23364009 21372407) Esophageal cancer ( 19698717) Hematological and biochemical traits ( 20139978) Intracranial aneurysm ( 22286173) mean corpuscular hemoglobin concentration ( 20139978) Renal function-related traits (sCR) ( 22797727) Stroke (ischemic) ( 23041239) Triglycerides ( 22171074) Upper aerodigestive tract cancers ( 21437268)
Protein-protein Interactions		12 interactors: ALDH1A1 APP C14orf1 CRMP1 EIF6 FAM45B HSPD1 HSPE1 IGSF21 RPL13A SLC35F6 UNC119
Entrez ID		217
HPRD ID		00003
Ensembl ID		ENSG00000111275
Uniprot IDs		P05091
PDB IDs		1CW3 1NZW 1NZX 1NZZ 1O00 1O01 1O02 1O04 1O05 1ZUM 2ONM 2ONN 2ONO 2ONP 2VLE 3INJ 3INL 3N80 3N81 3N82 3N83 3SZ9 4FQF 4FR8
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Peptidase Activity Positive Regulation Of Catalytic Activity Positive Regulation Of Proteolysis Regulation Of Protein Tyrosine Kinase Activity Alcohol Metabolic Process Negative Regulation Of Clathrin-mediated Endocytosis Negative Regulation Of Formation Of Translation Preinitiation Complex B Cell Cytokine Production Isotype Switching To IgG Isotypes Regulation Of Endopeptidase Activity Regulation Of Peptidase Activity Positive Regulation Of Hydrolase Activity Activation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Regulation Of Cellular Protein Metabolic Process Activation Of Cysteine-type Endopeptidase Activity Posttranscriptional Regulation Of Gene Expression Positive Regulation Of Cellular Protein Metabolic Process Negative Regulation Of Caveolin-mediated Endocytosis Synaptic Growth At Neuromuscular Junction Positive Regulation Of T Cell Mediated Immune Response To Tumor Cell Zymogen Activation Positive Regulation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Regulation Of Protein Metabolic Process Positive Regulation Of Protein Metabolic Process Positive Regulation Of Cysteine-type Endopeptidase Activity Collateral Sprouting In Absence Of Injury Cytokinesis, Completion Of Separation Sterol Metabolic Process Response To Unfolded Protein Positive Regulation Of Endopeptidase Activity Regulation Of Catalytic Activity Collateral Sprouting Axon Midline Choice Point Recognition Negative Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Regulation Of Proteolysis Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Mature Ribosome Assembly Axon Choice Point Recognition Regulation Of Caveolin-mediated Endocytosis Regulation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Mitotic Cytokinetic Process Pyrimidine Nucleobase Catabolic Process Regulation Of Cysteine-type Endopeptidase Activity Regulation Of Peptidyl-tyrosine Phosphorylation Positive Regulation Of Immune Response To Tumor Cell Ribosomal Subunit Export From Nucleus Neuron Remodeling Translational Initiation Protein Processing Steroid Metabolic Process
Tagcloud ?		02e1 abnormality abuse acetaldehyde adh alcohol alcoholic alcoholism aldehyde c2 candidate cirrhosis dehydrogenase discouraged drawn favored helped inherited linkage makes metabolizing nonfibrotic pedigree polymorphisms predisposition prove virtue vulnerability