NAT2
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Summary
NAT2 (N-acetyltransferase 2, HGNC:7646) is a protein-coding gene on chromosome 8p22, encoding Arylamine N-acetyltransferase 2 (P11245). Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates.
This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2).
Source: NCBI Gene 10 — RefSeq curated summary.
At a glance
- Gene–disease (curated): acetylation, slow (Limited, GenCC)
- Clinical variants (ClinVar): 55 total
- Druggable target: yes
- MANE Select transcript:
NM_000015
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7646 |
| Approved symbol | NAT2 |
| Name | N-acetyltransferase 2 |
| Location | 8p22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000156006 |
| Ensembl biotype | protein_coding |
| OMIM | 612182 |
| Entrez | 10 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000286479, ENST00000520116, ENST00000893781, ENST00000893782, ENST00000893783
RefSeq mRNA: 1 — MANE Select: NM_000015
NM_000015
CCDS: CCDS6008
Canonical transcript exons
ENST00000286479 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001023867 | 18399998 | 18401218 |
| ENSE00001344644 | 18391282 | 18391345 |
Expression profiles
Bgee: expression breadth ubiquitous, 131 present calls, max score 94.10.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3695 / max 109.7155, expressed in 42 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 87571 | 0.2950 | 21 |
| 87570 | 0.0745 | 18 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 94.10 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.92 | gold quality |
| liver | UBERON:0002107 | 91.05 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.81 | gold quality |
| duodenum | UBERON:0002114 | 88.19 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.33 | gold quality |
| colonic mucosa | UBERON:0000317 | 87.11 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 85.58 | gold quality |
| rectum | UBERON:0001052 | 84.23 | gold quality |
| small intestine | UBERON:0002108 | 72.96 | gold quality |
| transverse colon | UBERON:0001157 | 72.49 | gold quality |
| jejunum | UBERON:0002115 | 72.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.81 | gold quality |
| amniotic fluid | UBERON:0000173 | 66.92 | gold quality |
| intestine | UBERON:0000160 | 66.03 | gold quality |
| diaphragm | UBERON:0001103 | 65.40 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 64.12 | gold quality |
| vermiform appendix | UBERON:0001154 | 64.11 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 64.11 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 63.90 | gold quality |
| large intestine | UBERON:0000059 | 63.47 | gold quality |
| caecum | UBERON:0001153 | 63.08 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 63.07 | gold quality |
| colon | UBERON:0001155 | 62.38 | gold quality |
| endometrium epithelium | UBERON:0004811 | 61.22 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 60.99 | gold quality |
| secondary oocyte | CL:0000655 | 60.81 | silver quality |
| placenta | UBERON:0001987 | 60.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 59.50 | gold quality |
| metanephros | UBERON:0000081 | 57.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.57 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR3C1
miRNA regulators (miRDB)
33 targeting NAT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-4452 | 99.50 | 68.45 | 1493 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4801 | 98.96 | 69.42 | 2096 |
| HSA-MIR-4731-3P | 98.56 | 68.60 | 1860 |
| HSA-MIR-532-5P | 98.43 | 67.53 | 760 |
| HSA-MIR-628-5P | 98.36 | 67.74 | 844 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-585-5P | 97.54 | 69.02 | 955 |
Literature-anchored findings (GeneRIF, showing 2)
- central folding motif of the gp10 trimer is similar to that of the baseplate protein gp11 and to the receptor-binding domain of the short tail fiber, gp12 (PMID:16554069)
- The connector protein increases both the yield and the rate of capsid assembly suggesting that the incorporation of the connector in Phi29 likely promotes nucleation of assembly. (PMID:19744688)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:101040 | ENSDARG00000005176 |
| danio_rerio | si:dkey-78a14.4 | ENSDARG00000036066 |
| mus_musculus | Nat1 | ENSMUSG00000025588 |
| mus_musculus | Nat2 | ENSMUSG00000051147 |
| mus_musculus | Nat3 | ENSMUSG00000056426 |
| rattus_norvegicus | Nat3 | ENSRNOG00000029977 |
| rattus_norvegicus | Nat2 | ENSRNOG00000049498 |
| rattus_norvegicus | Nat3 | ENSRNOG00000074135 |
Paralogs (1): NAT1 (ENSG00000171428)
Protein
Protein identifiers
Arylamine N-acetyltransferase 2 — P11245 (reviewed: P11245)
Alternative names: Arylamide acetylase 2, N-acetyltransferase type 2, N-hydroxyarylamine O-acetyltransferase, Polymorphic arylamine N-acetyltransferase
All UniProt accessions (3): P11245, A4Z6T7, E7EWF9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates. Participates in the detoxification of a plethora of hydrazine and arylamine drugs, and is able to bioactivate several known carcinogens.
Subcellular location. Cytoplasm.
Polymorphism. Genetic variations in NAT2 determine the rate of acetylation of various arylamine and heterocyclic amine substrates that include therapeutic and carcinogenic agents. They influence drug therapy response and susceptibility to chemical toxicity [MIM:243400]. Different alleles are known, whose combination defines the rapid, intermediate and slow acetylator phenotypes. Allele NAT24 sequence is historically considered as the reference in most publications. The sequence shown in this entry corresponds to the translation of allele NAT212A, which is the one represented in the human reference genome (GRCh38/hg38 assembly) and has an arginine at position 268 (Ref.7). The enzyme encoded by allele NAT2*4 differs by the variant p.Arg268Lys. The two alloenzymes have comparable arylamine N-acetyltransferase activity.
Similarity. Belongs to the arylamine N-acetyltransferase family.
RefSeq proteins (1): NP_000006* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001447 | Arylamine_N-AcTrfase | Family |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR053710 | Arylamine_NAT_domain_sf | Homologous_superfamily |
Pfam: PF00797
Enzyme classification (BRENDA):
- EC 2.3.1.5 — arylamine N-acetyltransferase (BRENDA: 76 organisms, 504 substrates, 242 inhibitors, 322 Km, 150 kcat entries)
Substrate kinetics (BRENDA)
91 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 2-AMINOFLUORENE | 0.0002–5.8 | 50 |
| ACETYL-COA | 0.0084–560 | 23 |
| 5-AMINOSALICYLIC ACID | 0.0067–1.7 | 16 |
| ISONIAZID | 0.18–102 | 14 |
| P-AMINOBENZOIC ACID | 0.0028–152 | 13 |
| SULFAMETHAZINE | 0.02–5.39 | 11 |
| 4-NITROPHENYL ACETATE | 0.164–10 | 9 |
| HYDRALAZINE | 0.0134–1.327 | 9 |
| 4-AMINOSALICYLATE | 0.0941–3.827 | 8 |
| 4-AMINOSALICYLIC ACID | 0.258–2.2 | 8 |
| 4-AMINOBENZOIC ACID | 0.049–166 | 7 |
| 5-AMINOSALICYLATE | 0.2–0.662 | 7 |
| 4-AMINOBIPHENYL | 0.0058–1.57 | 5 |
| P-AMINOSALICYLIC ACID | 0.059–5.39 | 5 |
| 4-AMINOBENZOATE | 0.052–2.42 | 4 |
Catalyzed reactions (Rhea), 2 shown:
- an arylamine + acetyl-CoA = an N-acetylarylamine + CoA (RHEA:16613)
- an N-hydroxyarylamine + acetyl-CoA = an N-acetoxyarylamine + CoA (RHEA:20277)
UniProt features (56 total): sequence variant 18, strand 13, helix 12, binding site 6, active site 3, sequence conflict 3, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2PFR | X-RAY DIFFRACTION | 1.92 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P11245-F1 | 96.62 | 0.94 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 68 (acyl-thioester intermediate); 107; 122
Ligand- & substrate-binding residues (6): 103; 104; 106–107; 208; 214; 287
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-156582 | Acetylation |
| R-HSA-9753281 | Paracetamol ADME |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
| R-HSA-9748784 | Drug ADME |
MSigDB gene sets: 72 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, HSIAO_LIVER_SPECIFIC_GENES, CAIRO_HEPATOBLASTOMA_DN, MODULE_99, MODULE_112, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN, KEGG_DRUG_METABOLISM_OTHER_ENZYMES, GOMF_ACETYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_O_ACYLTRANSFERASE_ACTIVITY, GOMF_N_ACYLTRANSFERASE_ACTIVITY, REACTOME_PHASE_II_CONJUGATION_OF_COMPOUNDS, GOMF_N_ACETYLTRANSFERASE_ACTIVITY
GO Biological Process (1): xenobiotic metabolic process (GO:0006805)
GO Molecular Function (6): arylamine N-acetyltransferase activity (GO:0004060), N-hydroxyarylamine O-acetyltransferase activity (GO:0046990), protein binding (GO:0005515), acetyltransferase activity (GO:0016407), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (3): cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Drug ADME | 1 |
| Biological oxidations | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| N-acetyltransferase activity | 1 |
| O-acetyltransferase activity | 1 |
| binding | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
840 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAT2 | AADAC | P22760 | 865 |
| NAT2 | CYP2D6 | P10635 | 783 |
| NAT2 | ESCO1 | Q5FWF5 | 774 |
| NAT2 | GSTM1 | P09488 | 772 |
| NAT2 | ESCO2 | Q56NI9 | 770 |
| NAT2 | GATD3 | P0DPI2 | 767 |
| NAT2 | CYP1A2 | P05177 | 716 |
| NAT2 | CYP2E1 | P05181 | 670 |
| NAT2 | UGT1A1 | P22309 | 590 |
| NAT2 | UGT1A6 | P19224 | 586 |
| NAT2 | UGT1A7 | Q9HAW7 | 586 |
| NAT2 | PPIG | Q13427 | 585 |
| NAT2 | CYP1A1 | P04798 | 585 |
| NAT2 | UGT1A4 | P22310 | 585 |
| NAT2 | UGT1A10 | Q9HAW8 | 584 |
| NAT2 | UGT1A8 | Q9HAW9 | 584 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MBD4 | NAT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAT2 | RAD51 | psi-mi:“MI:0915”(physical association) | 0.540 |
| NAT2 | RAD51 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| RAD51 | NAT2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| NAT2 | STARD7 | psi-mi:“MI:0914”(association) | 0.530 |
| ATM | NAT2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| NAT2 | ATM | psi-mi:“MI:0915”(physical association) | 0.510 |
| NAT2 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NAT2 | PTBP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| APC | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | AURKA | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | BAG4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | CDH1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | CDKN2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDKN2C | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ERBB2 | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HMMR | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IGF1R | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NBN | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | PALB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPM1D | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | STK11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| WT1 | NAT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NAT2 | MBD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): STARD7 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), KLK5 (Affinity Capture-MS), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid), NAT2 (Two-hybrid)
ESM2 similar proteins: A0A179H324, A0A1B4XBK1, A0A1Y1C7Q5, A0A286LEZ6, A0A346RP51, A0A397HQ89, A0A8F4PN06, A8C7S0, B2DFU4, B7SP66, C9K1M7, C9K7B8, D4AK46, D4D447, G0LET6, G0LET9, I1R9B1, K3UFY2, K3VCL0, M1W268, O62696, O74516, O93801, P0CI62, P0DPA8, P0DUL5, P11245, P11246, P18440, P18605, P40483, P41929, P46580, P50292, P50293, P50294, P50295, P50296, P50297, P50298
Diamond homologs: O62696, P11245, P11246, P12275, P13913, P13914, P18440, P18605, P50292, P50293, P50294, P50295, P50296, P50297, P50298, Q00267, Q1JPA6, Q7YRG5, K3VCL0, Q5UPV4, B7SP66, O86309, W7NDP8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 20 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of TP53 Activity | 5 | 33.2× | 1e-05 |
| Transcriptional Regulation by TP53 | 5 | 15.5× | 3e-04 |
| Cellular responses to stress | 5 | 9.2× | 3e-03 |
| Cell Cycle | 5 | 9.0× | 3e-03 |
| Cellular responses to stimuli | 5 | 7.9× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of cell population proliferation | 6 | 12.6× | 9e-04 |
| negative regulation of apoptotic process | 6 | 10.4× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1912 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:18400253:T:C | F84L | 0.931 |
| 8:18400255:T:A | F84L | 0.931 |
| 8:18400255:T:G | F84L | 0.931 |
| 8:18400672:T:G | C223W | 0.911 |
| 8:18400577:T:C | F192L | 0.905 |
| 8:18400579:T:A | F192L | 0.905 |
| 8:18400579:T:G | F192L | 0.905 |
| 8:18400814:T:C | F271L | 0.900 |
| 8:18400816:T:A | F271L | 0.900 |
| 8:18400816:T:G | F271L | 0.900 |
| 8:18400670:T:C | C223R | 0.899 |
| 8:18400451:T:C | F150L | 0.898 |
| 8:18400453:C:A | F150L | 0.898 |
| 8:18400453:C:G | F150L | 0.898 |
| 8:18400607:T:C | F202L | 0.892 |
| 8:18400609:T:A | F202L | 0.892 |
| 8:18400609:T:G | F202L | 0.892 |
| 8:18400239:T:C | L79P | 0.891 |
| 8:18400733:T:C | F244L | 0.888 |
| 8:18400735:C:A | F244L | 0.888 |
| 8:18400735:C:G | F244L | 0.888 |
| 8:18400169:T:C | F56L | 0.886 |
| 8:18400171:T:A | F56L | 0.886 |
| 8:18400171:T:G | F56L | 0.886 |
| 8:18400578:T:C | F192S | 0.873 |
| 8:18400254:T:C | F84S | 0.868 |
| 8:18400116:A:T | E38V | 0.867 |
| 8:18400194:G:C | R64P | 0.863 |
| 8:18400086:T:C | L28P | 0.856 |
| 8:18400107:T:A | V35D | 0.855 |
dbSNP variants (sampled 300 via entrez): RS1000271815 (8:18387258 G>A), RS1000455899 (8:18392238 A>C), RS1000640435 (8:18398518 C>A,T), RS1000682471 (8:18386525 A>G), RS1000942609 (8:18391719 C>G,T), RS1001103775 (8:18396976 T>C), RS1001191305 (8:18386743 TTC>T), RS1001197853 (8:18393313 A>C,G), RS1001287849 (8:18397279 C>G), RS1001517431 (8:18396979 A>G), RS1001632289 (8:18391988 A>T), RS1001801177 (8:18386273 CTT>C), RS1001912405 (8:18392775 G>A), RS1002135860 (8:18398030 G>C), RS1002323984 (8:18396428 T>A,C,G)
Disease associations
OMIM: gene MIM:612182 | disease phenotypes: MIM:243400
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| acetylation, slow | Limited | Autosomal recessive |
Mondo (1): acetylation, slow (MONDO:0009472)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2194 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=true)
CTD chemical–gene interactions
111 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Isoniazid | affects metabolic processing, affects acetylation, decreases acetylation, increases acetylation, increases metabolic processing (+4 more) | 16 |
| Caffeine | increases acetylation, affects metabolic processing | 8 |
| Sulfamethazine | affects acetylation, increases acetylation, increases metabolic processing | 6 |
| 4-biphenylamine | increases activity, increases metabolic processing, affects response to substance, affects reaction, increases mutagenesis (+1 more) | 5 |
| Sulfasalazine | affects metabolic processing, affects response to substance, increases acetylation, increases metabolic processing | 5 |
| 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline | increases response to substance, increases metabolic processing, increases expression, affects activity, affects chemical synthesis (+1 more) | 4 |
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | increases activity, affects activity, affects chemical synthesis, decreases expression, increases expression | 4 |
| Amines | affects metabolic processing, increases activity, decreases activity, increases acetylation | 4 |
| 2-aminofluorene | increases acetylation, increases metabolic processing | 3 |
| 2-amino-3-methylimidazo(4,5-f)quinoline | affects cotreatment, increases response to substance, increases metabolic processing, increases mutagenesis | 3 |
| 2-amino-3,4-dimethylimidazo(4,5-f)quinoline | affects cotreatment, increases response to substance, increases metabolic processing, affects activity, affects chemical synthesis | 3 |
| 3-nitrobenzanthrone | affects cotreatment, increases mutagenesis, increases activity, increases reaction, increases reduction (+1 more) | 3 |
| Benzo(a)pyrene | increases expression, decreases expression, increases methylation, affects cotreatment | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| Aflatoxin B1 | decreases expression, increases expression, affects cotreatment, increases response to substance | 3 |
| trichostatin A | affects cotreatment, increases expression | 2 |
| 2-amino-3-methyl-9H-pyrido(2,3-b)indole | increases activity, increases metabolic processing, increases response to substance | 2 |
| 2-amino-9H-pyrido(2,3-b)indole | affects binding, affects cotreatment, increases mutagenesis, increases reaction, affects response to substance (+2 more) | 2 |
| 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine | increases acetylation, increases metabolic processing | 2 |
| dimethocaine | increases acetylation, increases response to substance, increases expression | 2 |
| 9-(4’-aminophenyl)-9H-pyrido(3,4-b)indole | affects metabolic processing, increases metabolic processing, increases response to substance | 2 |
| Acetaminophen | decreases expression | 2 |
| Calcitriol | decreases expression, increases expression, affects cotreatment | 2 |
| Estradiol | decreases expression | 2 |
| Glucose | increases expression, affects activity, affects chemical synthesis, increases activity | 2 |
| Polycyclic Aromatic Hydrocarbons | affects secretion, increases acetylation | 2 |
| 2-Naphthylamine | increases activity, affects reaction, increases mutagenesis, affects acetylation, increases acetylation | 2 |
| Cyclosporine | decreases expression | 2 |
| N-hydroxy-4-acetylaminobiphenyl | decreases activity | 1 |
| 2-anisidine | increases activity | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3267124 | Binding | Inhibition of human NAT2 assessed as rate of free thiol coenzyme A production using arylamine and AcCoA as substrate at 30 uM by Ellman’s method | Structure-activity relationships and colorimetric properties of specific probes for the putative cancer biomarker human arylamine N-acetyltransferase 1. — Bioorg Med Chem |
Cellosaurus cell lines
13 cell lines: 13 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_8559 | YG10008 | Spontaneously immortalized cell line | Female |
| CVCL_A2HA | V79MZh1A2/hNAT2 | Spontaneously immortalized cell line | Male |
| CVCL_UU81 | CHL ANP-19 | Spontaneously immortalized cell line | Female |
| CVCL_UU82 | CHL ANP-25 | Spontaneously immortalized cell line | Female |
| CVCL_UU83 | CHL ANP-38 | Spontaneously immortalized cell line | Female |
| CVCL_UU84 | CHL CNP-16 | Spontaneously immortalized cell line | Female |
| CVCL_UU85 | CHL CNP-26 | Spontaneously immortalized cell line | Female |
| CVCL_UU86 | CHL CNP-40 | Spontaneously immortalized cell line | Female |
| CVCL_UV01 | CHL 7P-101 | Spontaneously immortalized cell line | Female |
| CVCL_UV02 | CHL 7P-142 | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: acetylation, slow
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acetylation, slow