Details for: ALDH2

Gene ID: 217

Symbol: ALDH2

Ensembl ID: ENSG00000111275

Description: aldehyde dehydrogenase 2 family member

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 416.3419
    Cell Significance Index: -64.7600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 224.3307
    Cell Significance Index: -56.9000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 140.3872
    Cell Significance Index: -66.2800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 125.7618
    Cell Significance Index: -64.6900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 98.7449
    Cell Significance Index: -66.2600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 52.4755
    Cell Significance Index: -64.7000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 24.5142
    Cell Significance Index: -65.6700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.5976
    Cell Significance Index: -65.5000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.7124
    Cell Significance Index: -48.2600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.0453
    Cell Significance Index: -21.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 4.8759
    Cell Significance Index: 568.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.8844
    Cell Significance Index: 78.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.2557
    Cell Significance Index: 159.5300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.1687
    Cell Significance Index: 624.0000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.9321
    Cell Significance Index: 35.7100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.7582
    Cell Significance Index: 777.3600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.2438
    Cell Significance Index: 18.8900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1812
    Cell Significance Index: 31.6500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1427
    Cell Significance Index: 226.7800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.8488
    Cell Significance Index: 108.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7865
    Cell Significance Index: 108.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7417
    Cell Significance Index: 91.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7415
    Cell Significance Index: 44.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6765
    Cell Significance Index: 50.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6699
    Cell Significance Index: 134.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5643
    Cell Significance Index: 15.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5339
    Cell Significance Index: 191.5200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5251
    Cell Significance Index: 15.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5105
    Cell Significance Index: 278.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5010
    Cell Significance Index: 59.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3672
    Cell Significance Index: 66.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3333
    Cell Significance Index: 56.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2268
    Cell Significance Index: 6.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2175
    Cell Significance Index: 21.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2157
    Cell Significance Index: 6.9100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1680
    Cell Significance Index: 2.8300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1661
    Cell Significance Index: 7.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1483
    Cell Significance Index: 28.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1225
    Cell Significance Index: 89.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1145
    Cell Significance Index: 86.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0932
    Cell Significance Index: 64.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0779
    Cell Significance Index: 5.9800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0742
    Cell Significance Index: 139.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0347
    Cell Significance Index: 1.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0228
    Cell Significance Index: 35.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0051
    Cell Significance Index: -9.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0162
    Cell Significance Index: -10.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0169
    Cell Significance Index: -1.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0249
    Cell Significance Index: -18.4600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0462
    Cell Significance Index: -62.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0496
    Cell Significance Index: -30.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0586
    Cell Significance Index: -7.5800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0686
    Cell Significance Index: -7.8300
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.0739
    Cell Significance Index: -1.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0758
    Cell Significance Index: -3.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0876
    Cell Significance Index: -39.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0964
    Cell Significance Index: -54.3500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1243
    Cell Significance Index: -2.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1388
    Cell Significance Index: -10.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1440
    Cell Significance Index: -2.4100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1495
    Cell Significance Index: -2.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1945
    Cell Significance Index: -40.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2444
    Cell Significance Index: -28.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2532
    Cell Significance Index: -15.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2549
    Cell Significance Index: -37.0600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2629
    Cell Significance Index: -3.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3074
    Cell Significance Index: -6.6600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4259
    Cell Significance Index: -10.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4391
    Cell Significance Index: -27.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4518
    Cell Significance Index: -21.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5320
    Cell Significance Index: -11.3300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5445
    Cell Significance Index: -13.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5631
    Cell Significance Index: -58.6300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6288
    Cell Significance Index: -21.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6340
    Cell Significance Index: -8.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.6624
    Cell Significance Index: -30.0300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.7685
    Cell Significance Index: -8.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.8391
    Cell Significance Index: -56.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.8834
    Cell Significance Index: -49.5700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.9446
    Cell Significance Index: -60.9400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.9717
    Cell Significance Index: -20.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.0020
    Cell Significance Index: -44.3200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.0569
    Cell Significance Index: -28.2200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.0684
    Cell Significance Index: -53.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0819
    Cell Significance Index: -66.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0985
    Cell Significance Index: -28.8900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.1086
    Cell Significance Index: -29.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.1404
    Cell Significance Index: -59.2400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.1669
    Cell Significance Index: -13.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.1997
    Cell Significance Index: -45.4300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.3852
    Cell Significance Index: -14.3400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.4250
    Cell Significance Index: -36.6300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.4751
    Cell Significance Index: -54.1500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -1.5853
    Cell Significance Index: -30.9400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.6237
    Cell Significance Index: -28.0800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -1.6264
    Cell Significance Index: -28.7400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.6334
    Cell Significance Index: -13.7200
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -1.6795
    Cell Significance Index: -23.5400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.6990
    Cell Significance Index: -59.5200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.7806
    Cell Significance Index: -56.7100

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:

Database IDs:

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: 38297121

Title: Stress response silencing by an E3 ligase mutated in neurodegeneration.

PubMed ID: 38297121

DOI: 10.1038/s41586-023-06985-7

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.