Details for: ALDH2

Gene ID: 217

Symbol: ALDH2

Ensembl ID: ENSG00000111275

Description: aldehyde dehydrogenase 2 family member

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 2.9
    Marker Score: 7,372
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.81
    Marker Score: 71,869
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.61
    Marker Score: 3,772
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.59
    Marker Score: 4,123
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.5
    Marker Score: 140,067
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.5
    Marker Score: 18,581
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.48
    Marker Score: 11,890
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2.41
    Marker Score: 4,394
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.38
    Marker Score: 8,460
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.38
    Marker Score: 15,493
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.36
    Marker Score: 15,051
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.35
    Marker Score: 7,383
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.27
    Marker Score: 654
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.26
    Marker Score: 1,943
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 2.24
    Marker Score: 5,853
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.23
    Marker Score: 3,590
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2.21
    Marker Score: 1,247
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.14
    Marker Score: 2,143
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.13
    Marker Score: 7,879
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.02
    Marker Score: 43,041
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.01
    Marker Score: 4,569
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2
    Marker Score: 4,760
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.96
    Marker Score: 5,254
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.96
    Marker Score: 2,287
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.95
    Marker Score: 10,252
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.91
    Marker Score: 6,269
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.87
    Marker Score: 11,389
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.85
    Marker Score: 4,615
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.84
    Marker Score: 1,764
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.83
    Marker Score: 2,819
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.82
    Marker Score: 1,220
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.82
    Marker Score: 2,087
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.82
    Marker Score: 4,727
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.81
    Marker Score: 894
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.81
    Marker Score: 4,410
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.8
    Marker Score: 14,080
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.79
    Marker Score: 749
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.79
    Marker Score: 15,405
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.75
    Marker Score: 660
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.73
    Marker Score: 398
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.72
    Marker Score: 27,661
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.72
    Marker Score: 2,066
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.7
    Marker Score: 9,121
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.68
    Marker Score: 2,752
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.68
    Marker Score: 14,577
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.65
    Marker Score: 739
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.64
    Marker Score: 4,135
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.64
    Marker Score: 21,624
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.64
    Marker Score: 3,727
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 1.61
    Marker Score: 1,101
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.6
    Marker Score: 54,533
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.6
    Marker Score: 408
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.57
    Marker Score: 1,311
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.55
    Marker Score: 6,709
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.54
    Marker Score: 1,568
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.53
    Marker Score: 9,822
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.52
    Marker Score: 1,001
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.51
    Marker Score: 2,842
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.49
    Marker Score: 1,438
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.48
    Marker Score: 692
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.46
    Marker Score: 2,850
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.46
    Marker Score: 1,151
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.46
    Marker Score: 816
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.46
    Marker Score: 3,437
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.45
    Marker Score: 1,469
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.44
    Marker Score: 165,560
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.44
    Marker Score: 499
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.42
    Marker Score: 351
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.42
    Marker Score: 1,267
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.4
    Marker Score: 1,193
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.4
    Marker Score: 53,050
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.38
    Marker Score: 2,296
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.38
    Marker Score: 405
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.38
    Marker Score: 391
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.37
    Marker Score: 560
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.37
    Marker Score: 24,314
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.36
    Marker Score: 1,755
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.36
    Marker Score: 5,637
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.35
    Marker Score: 429
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.35
    Marker Score: 5,534
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.34
    Marker Score: 1,418
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.33
    Marker Score: 914
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.32
    Marker Score: 327
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.31
    Marker Score: 5,042
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.31
    Marker Score: 1,898
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.3
    Marker Score: 1,607
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.3
    Marker Score: 2,705
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.29
    Marker Score: 638
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.29
    Marker Score: 8,400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.29
    Marker Score: 1,285
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.28
    Marker Score: 1,111
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.27
    Marker Score: 846
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.24
    Marker Score: 1,309
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.24
    Marker Score: 1,454
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.24
    Marker Score: 4,264
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.23
    Marker Score: 1,274
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.22
    Marker Score: 9,347
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.22
    Marker Score: 2,863
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.22
    Marker Score: 636
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.21
    Marker Score: 2,212

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ALDH2 is a mitochondrial enzyme belonging to the aldehyde dehydrogenase family, characterized by its ability to catalyze the oxidation of aldehydes to carboxylic acids. This reaction is essential for the detoxification of harmful compounds, such as ethanol, and the maintenance of cellular redox balance. The enzyme is composed of a zinc-binding motif, which is crucial for its catalytic activity. ALDH2 is also known for its high affinity for NAD+ and its ability to regenerate NAD+ from NADH, making it an essential component of the cellular electron transport chain. **Pathways and Functions:** ALDH2 is involved in various cellular processes, including: 1. **Alcohol Metabolism:** ALDH2 is responsible for the oxidation of ethanol to acetaldehyde, a toxic compound that can cause cellular damage if not properly metabolized. 2. **Electron Transport Chain:** ALDH2's ability to regenerate NAD+ from NADH makes it a crucial component of the mitochondrial electron transport chain, which is essential for energy production in cells. 3. **Oxidative Stress Defense:** ALDH2 helps to detoxify reactive oxygen species (ROS) and other oxidative stress-inducing compounds, thereby protecting cells from damage. 4. **Carbohydrate Metabolism:** ALDH2 is involved in the metabolism of glycolytic intermediates, such as glyceraldehyde-3-phosphate, which is essential for energy production in cells. **Clinical Significance:** Dysregulation of ALDH2 has been implicated in various diseases, including: 1. **Alzheimer's Disease:** Variants of the ALDH2 gene have been associated with an increased risk of Alzheimer's disease, suggesting that ALDH2 plays a role in the clearance of amyloid-beta peptides, a hallmark of the disease. 2. **Cancer:** ALDH2 has been shown to be overexpressed in certain types of cancer, including lung, breast, and colon cancer, suggesting its potential role in tumorigenesis. 3. **Neurodegenerative Disorders:** ALDH2 has been implicated in the pathogenesis of neurodegenerative disorders, such as Parkinson's disease and Huntington's disease, where oxidative stress and mitochondrial dysfunction play a key role. In conclusion, ALDH2 is a multifunctional enzyme with far-reaching implications in human health and disease. Its unique structure and activity make it an essential component of the cellular defense mechanism against oxidative stress and damage, and its dysregulation has been implicated in various diseases. Further research is needed to fully elucidate the role of ALDH2 in human health and disease.

Genular Protein ID: 1184527

Symbol: ALDH2_HUMAN

Name: Aldehyde dehydrogenase, mitochondrial

UniProtKB Accession Codes:

P05091 B4DW54 E7EUE5 Q03639 Q6IB13 Q6IV71

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 4 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 12 DrugCentral 1 EC 2 EMBL 24 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 32 PDBsum 28 PIR 1 PRIDE 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 3 RefSeq 2 Rhea 1 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3582651

Title: Evidence for a signal peptide at the amino-terminal end of human mitochondrial aldehyde dehydrogenase.

PubMed ID: 3582651

DOI: 10.1016/0014-5793(87)80152-7

PubMed ID: 3562250

Title: Isolation and sequence analysis of a full length cDNA clone coding for human mitochondrial aldehyde dehydrogenase.

PubMed ID: 3562250

DOI: 10.1093/nar/15.7.3179

PubMed ID: 2838413

Title: Genomic structure of the human mitochondrial aldehyde dehydrogenase gene.

PubMed ID: 2838413

DOI: 10.1016/0888-7543(88)90109-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 4065146

Title: Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations.

PubMed ID: 4065146

DOI: 10.1111/j.1432-1033.1985.tb09260.x

PubMed ID: 2987944

Title: Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2.

PubMed ID: 2987944

DOI: 10.1073/pnas.82.11.3771

PubMed ID: 4015823

Title: Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases.

PubMed ID: 4015823

DOI: 10.1016/0741-8329(85)90024-2

PubMed ID: 15242332

Title: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.

PubMed ID: 15242332

DOI: 10.1042/bj20040647

PubMed ID: 3610592

Title: Human aldehyde dehydrogenase isozymes and alcohol sensitivity.

PubMed ID: 3610592

PubMed ID: 3653404

Title: Mitochondrial aldehyde dehydrogenase. Homology of putative targeting sequence to that of carbamyl phosphate synthetase I revealed by correlation of cDNA and protein data.

PubMed ID: 3653404

DOI: 10.1016/0014-5793(87)80198-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10631996

Title: Human liver mitochondrial aldehyde dehydrogenase: three-dimensional structure and the restoration of solubility and activity of chimeric forms.

PubMed ID: 10631996

DOI: 10.1110/ps.8.12.2784

PubMed ID: 6582480

Title: Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.

PubMed ID: 6582480

DOI: 10.1073/pnas.81.1.258

PubMed ID: 8561277

Title: Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations: detection of new ALDH2 alleles.

PubMed ID: 8561277

DOI: 10.1111/j.1530-0277.1995.tb01587.x

PubMed ID: 33355142

Title: Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

PubMed ID: 33355142

DOI: 10.1126/sciadv.abd7197

Sequence Information:

  • Length: 517
  • Mass: 56381
  • Checksum: E8F74D44D285A00E
  • Sequence:
    • MLRAAARFGP RLGRRLLSAA ATQAVPAPNQ QPEVFCNQIF INNEWHDAVS RKTFPTVNPS 
TGEVICQVAE GDKEDVDKAV KAARAAFQLG SPWRRMDASH RGRLLNRLAD LIERDRTYLA 
ALETLDNGKP YVISYLVDLD MVLKCLRYYA GWADKYHGKT IPIDGDFFSY TRHEPVGVCG 
QIIPWNFPLL MQAWKLGPAL ATGNVVVMKV AEQTPLTALY VANLIKEAGF PPGVVNIVPG 
FGPTAGAAIA SHEDVDKVAF TGSTEIGRVI QVAAGSSNLK RVTLELGGKS PNIIMSDADM 
DWAVEQAHFA LFFNQGQCCC AGSRTFVQED IYDEFVERSV ARAKSRVVGN PFDSKTEQGP 
QVDETQFKKI LGYINTGKQE GAKLLCGGGI AADRGYFIQP TVFGDVQDGM TIAKEEIFGP 
VMQILKFKTI EEVVGRANNS TYGLAAAVFT KDLDKANYLS QALQAGTVWV NCYDVFGAQS 
PFGGYKMSGS GRELGEYGLQ AYTEVKTVTV KVPQKNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.