Details for: NAT2

Gene ID: 10

Symbol: NAT2

Ensembl ID: ENSG00000156006

Description: N-acetyltransferase 2

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: endothelial cell (CL0000115)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: macrophage (CL0000235)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: neuron (CL0000540)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: enterocyte (CL0000584)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: leukocyte (CL0000738)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: pulmonary alveolar type 2 cell (CL0002063)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: N/A
    Cell Significance Index: 0.0000
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: N/A
    Cell Significance Index: 0.0000

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:** 1. **Enzyme classification:** NAT2 belongs to the N-acetyltransferase family, which consists of enzymes that catalyze the transfer of an acetyl group from acetyl-CoA to various substrates. 2. **Substrate specificity:** NAT2 exhibits high specificity for aromatic amino acids, such as phenylalanine, tyrosine, and tryptophan, as well as xenobiotics like paracetamol. 3. **Expression pattern:** NAT2 is widely expressed in various tissues, including the immune system, liver, and gastrointestinal tract, with highest expression levels in certain cell types, such as B cells and endothelial cells. 4. **Genetic polymorphism:** NAT2 exhibits genetic polymorphism, with polymorphisms in the NAT2 gene affecting enzyme activity and substrate specificity. **Pathways and Functions:** 1. **Acetylation:** NAT2 catalyzes the acetylation of aromatic amino acids, which is an essential step in their degradation and elimination from the body. 2. **Xenobiotic metabolism:** NAT2 plays a key role in the metabolism of xenobiotics, including paracetamol, which is a widely used analgesic and antipyretic agent. 3. **Arylamine n-acetyltransferase activity:** NAT2 exhibits arylamine n-acetyltransferase activity, which involves the transfer of an acetyl group from acetyl-CoA to arylamine substrates. 4. **Cytosolic localization:** NAT2 is primarily localized to the cytosol of cells, where it can interact with various substrates and cofactors. **Clinical Significance:** 1. **Paracetamol metabolism:** NAT2 plays a critical role in the metabolism of paracetamol, and polymorphisms in the NAT2 gene can affect the risk of paracetamol-induced liver damage. 2. **Cancer susceptibility:** NAT2 has been implicated in cancer susceptibility, with polymorphisms in the NAT2 gene affecting the risk of certain cancers, such as colon cancer. 3. **Immune system function:** NAT2's expression in immune cells, such as B cells and dendritic cells, suggests its potential role in immune system function and the regulation of immune responses. 4. **Pharmacogenomics:** NAT2's genetic polymorphism and substrate specificity make it an important target for pharmacogenomic studies, which aim to predict an individual's response to specific medications based on their genetic profile. In conclusion, NAT2 is a crucial enzyme involved in the metabolism of xenobiotics and aromatic amino acids, and its genetic polymorphism and substrate specificity have significant implications for its role in both normal physiological processes and disease states. Further research is needed to fully elucidate the functions and clinical significance of NAT2.

Genular Protein ID: 3740407562

Symbol: ARY2_HUMAN

Name: Arylamide acetylase 2

UniProtKB Accession Codes:

P11245 O43637 O60654 O60655 Q13146 Q16697 Q2MLE4 Q2MLF5 Q2MLG8 Q2MLJ6 Q2MLK4 Q2MLK6 Q2MLN7 Q6LET4 Q86XS0 Q86XS1 Q96KY8 Q96T64 Q96T65 Q9H220

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 10 EC 2 EMBL 100 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 4 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 2 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2734109

Title: Nucleotide sequence of an intronless gene for a human arylamine N-acetyltransferase related to polymorphic drug acetylation.

PubMed ID: 2734109

DOI: 10.1093/nar/17.10.3978

PubMed ID: 2340091

Title: Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression.

PubMed ID: 2340091

DOI: 10.1089/dna.1990.9.193

PubMed ID: 1968463

Title: Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.

PubMed ID: 1968463

DOI: 10.1016/s0021-9258(19)39609-7

PubMed ID: 1381364

Title: Sequences and expression of alleles of polymorphic arylamine N-acetyltransferase of human liver.

PubMed ID: 1381364

DOI: 10.1016/s0021-9258(19)37164-9

PubMed ID: 7915226

Title: Cloning, expression, and functional characterization of two mutant (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-acetyltransferase (NAT2) alleles.

PubMed ID: 7915226

PubMed ID: 16416399

Title: Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

PubMed ID: 16416399

DOI: 10.1086/500614

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 1676262

Title: Structure and restriction fragment length polymorphism of genes for human liver arylamine N-acetyltransferases.

PubMed ID: 1676262

DOI: 10.1016/0006-291x(91)90676-x

PubMed ID: 2924904

Title: Evidence for two closely related isozymes of arylamine N-acetyltransferase in human liver.

PubMed ID: 2924904

DOI: 10.1016/0014-5793(89)81193-7

PubMed ID: 17656365

Title: Structural basis of substrate-binding specificity of human arylamine N-acetyltransferases.

PubMed ID: 17656365

DOI: 10.1074/jbc.m704138200

PubMed ID: 2068113

Title: Diverse point mutations in the human gene for polymorphic N-acetyltransferase.

PubMed ID: 2068113

DOI: 10.1073/pnas.88.14.6333

PubMed ID: 8466518

Title: The structure and characteristics of a fourth allele of polymorphic N-acetyltransferase gene found in the Japanese population.

PubMed ID: 8466518

DOI: 10.1006/bbrc.1993.1289

PubMed ID: 7920692

Title: Ethnic distribution of slow acetylator mutations in the polymorphic N-acetyltransferase (NAT2) gene.

PubMed ID: 7920692

DOI: 10.1097/00008571-199406000-00003

PubMed ID: 10970160

Title: Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene.

PubMed ID: 10970160

DOI: 10.1002/1098-1004(200006)15:6<581::aid-humu17>3.0.co;2-v

PubMed ID: 11337936

Title: Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms.

PubMed ID: 11337936

DOI: 10.1097/00008571-200104000-00004

PubMed ID: 12222688

Title: Functional genomics of C190T single nucleotide polymorphism in human N-acetyltransferase 2.

PubMed ID: 12222688

DOI: 10.1515/bc.2002.105

PubMed ID: 17264801

Title: Functional characterization of the A411T (L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2.

PubMed ID: 17264801

DOI: 10.1097/01.fpc.0000236325.73186.2c

PubMed ID: 18304320

Title: Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

PubMed ID: 18304320

DOI: 10.1186/1471-2156-9-21

Sequence Information:

  • Length: 290
  • Mass: 33571
  • Checksum: FAEE3BC2107F000E
  • Sequence:
    • MDIEAYFERI GYKNSRNKLD LETLTDILEH QIRAVPFENL NMHCGQAMEL GLEAIFDHIV 
RRNRGGWCLQ VNQLLYWALT TIGFQTTMLG GYFYIPPVNK YSTGMVHLLL QVTIDGRNYI 
VDAGSGSSSQ MWQPLELISG KDQPQVPCIF CLTEERGIWY LDQIRREQYI TNKEFLNSHL 
LPKKKHQKIY LFTLEPRTIE DFESMNTYLQ TSPTSSFITT SFCSLQTPEG VYCLVGFILT 
YRKFNYKDNT DLVEFKTLTE EEVEEVLRNI FKISLGRNLV PKPGDGSLTI

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.