NAT8

Summary

NAT8 (N-acetyltransferase 8 (putative), HGNC:18069) is a protein-coding gene on chromosome 2p13.1, encoding N-acetyltransferase 8 (Q9UHE5). Endoplasmic reticulum (ER)-membrane-bound lysine N-acetyltransferase catalyzing the N6-acetylation of lysine residues in the lumen of the ER in various proteins, including PROM1 and BACE1, using acetyl-CoA as acetyl donor.

This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene.

Source: NCBI Gene 9027 — RefSeq curated summary.

At a glance

• GWAS associations: 91
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_003960

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18069
Approved symbol	NAT8
Name	N-acetyltransferase 8 (putative)
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	Hcml1, TSC501, ATase2
Ensembl gene	ENSG00000144035
Ensembl biotype	protein_coding
OMIM	606716
Entrez	9027

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000272425, ENST00000852385, ENST00000852386, ENST00000852387, ENST00000852388

RefSeq mRNA: 1 — MANE Select: NM_003960 NM_003960

CCDS: CCDS1926

Canonical transcript exons

ENST00000272425 — 2 exons

Exon	Start	End
ENSE00000963341	73640723	73641702
ENSE00001043681	73642318	73642422

Expression profiles

Bgee: expression breadth ubiquitous, 148 present calls, max score 99.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0450 / max 39.6505, expressed in 8 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29143	0.0217	6
29144	0.0152	5
29142	0.0081	4

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.52	gold quality
kidney epithelium	UBERON:0004819	97.91	gold quality
renal glomerulus	UBERON:0000074	97.90	gold quality
adult mammalian kidney	UBERON:0000082	97.76	gold quality
metanephric glomerulus	UBERON:0004736	97.69	gold quality
nephron tubule	UBERON:0001231	97.03	gold quality
kidney	UBERON:0002113	93.38	gold quality
renal medulla	UBERON:0000362	93.23	gold quality
cortex of kidney	UBERON:0001225	90.24	gold quality
right lobe of liver	UBERON:0001114	90.20	gold quality
liver	UBERON:0002107	89.84	gold quality
metanephros	UBERON:0000081	84.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.63	gold quality
metanephros cortex	UBERON:0010533	77.79	gold quality
caput epididymis	UBERON:0004358	69.09	gold quality
ileal mucosa	UBERON:0000331	67.51	gold quality
vena cava	UBERON:0004087	67.43	gold quality
mucosa of transverse colon	UBERON:0004991	67.04	gold quality
type B pancreatic cell	CL:0000169	64.59	gold quality
duodenum	UBERON:0002114	64.30	gold quality
right uterine tube	UBERON:0001302	61.60	gold quality
pancreatic ductal cell	CL:0002079	60.97	silver quality
male germ cell	CL:0000015	60.60	gold quality
gluteal muscle	UBERON:0002000	60.45	gold quality
left ovary	UBERON:0002119	60.35	gold quality
sperm	CL:0000019	60.33	gold quality
right ovary	UBERON:0002118	60.26	gold quality
olfactory bulb	UBERON:0002264	60.20	gold quality
myocardium	UBERON:0002349	59.51	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting NAT8, 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-3646	100.00	73.56	5283
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-1912-5P	97.94	67.98	832
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-4256	96.22	67.70	669
HSA-MIR-11181-5P	96.12	67.46	665
HSA-MIR-365A-5P	94.91	63.72	471
HSA-MIR-365B-5P	94.91	63.79	470

Literature-anchored findings (GeneRIF, showing 8)

• we raise the hypothesis that the alternative SNP alleles of the NAT8 upstream region may have differential effect on gene expression (PMID:18402670)
• NAT8L is the NAA biosynthetic enzyme Asp-N-acetyltransferase and is highly specific for the acetylation of aspartate. (PMID:20385109)
• NAT8 is the enzyme that acetylates cysteine S-conjugates to mercapturic acids (PMID:20392701)
• Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces beta-secretase (BACE1) levels and Abeta generation. (PMID:22267734)
• ATase1 and ATase2 are endoplasmic reticulum-based acetyltransferases that form homo- and heterodimers and associate with members of the oligosaccharyltransferase complex (PMID:25301944)
• Findings indicate that the NAA pathway has a prominent role in promoting tumor growth and represents a valuable target for anticancer therapy. (PMID:26819345)
• NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD. (PMID:33380473)
• N-Acetyltransferase 8 Promotes Viral Replication by Increasing the Stability of Enterovirus 71 Nonstructural Proteins. (PMID:35170979)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	nat8	ENSDARG00000078991
danio_rerio		ENSDARG00000106491
mus_musculus	Nat8f3	ENSMUSG00000051262
mus_musculus	Nat8f6	ENSMUSG00000079495
mus_musculus	Nat8f7	ENSMUSG00000089694
rattus_norvegicus	Nat8f3	ENSRNOG00000067962

Paralogs (2): NAT14 (ENSG00000090971), NAT8L (ENSG00000185818)

Protein

Protein identifiers

N-acetyltransferase 8 — Q9UHE5 (reviewed: Q9UHE5)

Alternative names: Acetyltransferase 2, Camello-like protein 1, Cysteinyl-conjugate N-acetyltransferase, Protein-lysine N6-acetyltransferase 8

All UniProt accessions (1): Q9UHE5

UniProt curated annotations — full annotation on UniProt →

Function. Endoplasmic reticulum (ER)-membrane-bound lysine N-acetyltransferase catalyzing the N6-acetylation of lysine residues in the lumen of the ER in various proteins, including PROM1 and BACE1, using acetyl-CoA as acetyl donor. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1. May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons. N(6)-lysine acetylation in the ER maintains protein homeostasis and regulates reticulophagy. Alternatively, acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids. This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile.

Subcellular location. Endoplasmic reticulum-Golgi intermediate compartment membrane. Endoplasmic reticulum membrane.

Tissue specificity. Preferentially expressed in liver and kidney. Also detected in brain (at protein level).

Induction. Up-regulated by ceramides.

Pathway. Sulfur metabolism; glutathione metabolism.

Similarity. Belongs to the NAT8 family.

RefSeq proteins (1): NP_003951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000182	GNAT_dom	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR050769	NAT_camello-type	Family

Pfam: PF00583

Enzyme classification (BRENDA):

• EC 2.3.1.80 — cysteine-S-conjugate N-acetyltransferase (BRENDA: 3 organisms, 15 substrates, 6 inhibitors, 17 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-BENZYL-L-CYSTEINE	0.0285–0.14	3
S-(1,2,3,4,4-PENTACHLORO-BUTADIENYL)-L-CYSTEINE	0.19–0.39	2
S-4-NITROBENZYL-L-CYSTEINE	0.0291–0.176	2
ACETYL-COA	0.023	1
O-BENZYL-L-SERINE	2.6	1
S-1-MENAPHTHYL-L-CYSTEINE	0.0267	1
S-ACETYL-COA	0.026	1
S-BUTYL-L-CYSTEINE	0.063	1
S-ETHYL-L-CYSTEINE	7.1	1
S-PROPYL-L-CYSTEINE	0.67	1

Catalyzed reactions (Rhea), 2 shown:

• an S-substituted L-cysteine + acetyl-CoA = an N-acetyl-L-cysteine-S-conjugate + CoA + H(+) (RHEA:19213)
• L-lysyl-[protein] + acetyl-CoA = N(6)-acetyl-L-lysyl-[protein] + CoA + H(+) (RHEA:45948)

UniProt features (14 total): mutagenesis site 4, sequence conflict 3, topological domain 2, sequence variant 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHE5-F1	91.79	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (4):

Position	Phenotype
190	exhibits reduced protein-lysine n6-acetyltransferase activity; when associated with a-149 and a-183.
149	exhibits reduced protein-lysine n6-acetyltransferase activity; when associated with a-183 and a-190.
149	loss of the cysteine s-conjugate n-acetyltransferase activity. no effect on protein expression.
183	exhibits reduced protein-lysine n6-acetyltransferase activity; when associated with a-149 and a-190.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-977225	Amyloid fiber formation
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 114 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_PEPTIDYL_LYSINE_MODIFICATION, MODULE_379, HOWLIN_PUBERTAL_MAMMARY_GLAND, GOBP_PROTEIN_ACETYLATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_AMIDE_METABOLIC_PROCESS, FUJIWARA_PARK2_HEPATOCYTE_PROLIFERATION_UP, FUJIWARA_PARK2_IN_LIVER_CANCER_DN, MODULE_88, GOBP_GLUTATHIONE_METABOLIC_PROCESS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, MODULE_242, GOBP_PROTEIN_ACYLATION, MODULE_48

GO Biological Process (4): glutathione metabolic process (GO:0006749), positive regulation of gene expression (GO:0010628), peptidyl-lysine N6-acetylation (GO:0018003), amyloid fibril formation (GO:1990000)

GO Molecular Function (8): L-lysine N6-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468), N-acetyltransferase activity (GO:0008080), L-cysteine-S-conjugate N-acetyltransferase activity (GO:0047198), protein-lysine-acetyltransferase activity (GO:0061733), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), membrane (GO:0016020), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
L-amino-acid N-acetyltransferase activity	2
cytoplasm	2
intracellular membrane-bounded organelle	2
modified amino acid metabolic process	1
sulfur compound metabolic process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
internal peptidyl-lysine acetylation	1
protein metabolic process	1
supramolecular fiber organization	1
acetyltransferase activity	1
protein N-acetyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1
endomembrane system	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAT8	KAT2A	Q92830	727
NAT8	KAT2B	Q92831	692
NAT8	PYROXD2	Q8N2H3	624
NAT8	SLC33A1	O00400	543
NAT8	ALMS1	Q8TCU4	474
NAT8	SLC7A9	P82251	434
NAT8	NAA20	P61599	420
NAT8	RBX1	P62877	418
NAT8	SLC14A2	Q15849	413
NAT8	CUL2	Q13617	408
NAT8	ELOC	Q15369	407
NAT8	ESCO2	Q56NI9	406
NAT8	ESCO1	Q5FWF5	403
NAT8	ELOB	Q15370	394
NAT8	NAT14	Q8WUY8	383

IntAct

83 interactions, top by confidence:

A	B	Type	Score
NAT8	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
NAT8	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
NAT8	REEP2	psi-mi:“MI:0915”(physical association)	0.560
NAT8	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
NAT8	TMX2	psi-mi:“MI:0915”(physical association)	0.560
CREB3L1	NAT8	psi-mi:“MI:0915”(physical association)	0.560
	NAT8	psi-mi:“MI:0915”(physical association)	0.560
JPH1	NAT8	psi-mi:“MI:0915”(physical association)	0.560
YIPF4	NAT8	psi-mi:“MI:0915”(physical association)	0.560
BIK	NAT8	psi-mi:“MI:0915”(physical association)	0.560
TLCD4	NAT8	psi-mi:“MI:0915”(physical association)	0.560
MTIF3	NAT8	psi-mi:“MI:0915”(physical association)	0.560
CD79A	NAT8	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	NAT8	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	NAT8	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	NAT8	psi-mi:“MI:0915”(physical association)	0.560
HSD17B13	NAT8	psi-mi:“MI:0915”(physical association)	0.560
GPR152	NAT8	psi-mi:“MI:0915”(physical association)	0.560
REEP2	NAT8	psi-mi:“MI:0915”(physical association)	0.560
LEPROTL1	NAT8	psi-mi:“MI:0915”(physical association)	0.560
TMEM143	NAT8	psi-mi:“MI:0915”(physical association)	0.560
TMEM14B	NAT8	psi-mi:“MI:0915”(physical association)	0.560
TSPAN31	NAT8	psi-mi:“MI:0915”(physical association)	0.560
CERS4	NAT8	psi-mi:“MI:0915”(physical association)	0.560
EBP	NAT8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (31): NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid), NAT8 (Two-hybrid)

ESM2 similar proteins: A4FVI0, A5PK19, E0CYC6, E9PYK3, F1QWK4, G5E8F4, O55239, P0C5J1, P40261, P85118, P98192, Q06AV1, Q09M05, Q14164, Q14CH1, Q5I0I5, Q5PPG7, Q5R699, Q5RFM7, Q5XG58, Q61211, Q6PZ05, Q7ZU92, Q8BML1, Q8BQJ6, Q8BZ20, Q8CHQ9, Q8IYR2, Q8N6R0, Q8N7N1, Q8WYN0, Q91W78, Q91YR5, Q96GJ1, Q96MI9, Q9CWQ2, Q9H0J9, Q9JIY6, Q9JIY7, Q9JIZ0

Diamond homologs: A4IGD2, A4II32, D3ZVU9, E0CYC6, E0CYR6, O31443, P85118, Q28DI5, Q3UGX3, Q58604, Q66KL0, Q8CHQ9, Q8N9F0, Q9I8W5, Q9JIY6, Q9JIY7, Q9JIY8, Q9JIZ0, Q9QXS4, Q9QXS7, Q9QXS8, Q9QXT3, Q9QXT4, Q9UHE5, Q9UHF3, Q08021, P39337, Q7CXI0, O74311, O80438, Q03503, Q0IHH1, Q0IIJ0, Q147X3, Q54MP9, Q58925, Q5RF28, Q5XGA9, Q6DBY2, Q6GP53

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

59 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1347 predictions. Top by Δscore:

Variant	Effect	Δscore
X:101395441:GAGA:G	donor_gain	1.0000
X:101395444:A:G	donor_gain	1.0000
X:101398365:TTTA:T	donor_loss	1.0000
X:101398366:TTA:T	donor_loss	1.0000
X:101398367:TA:T	donor_loss	1.0000
X:101398369:C:T	donor_loss	1.0000
X:101398425:T:TA	donor_gain	1.0000
X:101398430:AT:A	donor_gain	1.0000
X:101398564:CTAA:C	acceptor_gain	1.0000
X:101398565:TAA:T	acceptor_gain	1.0000
X:101398568:C:CC	acceptor_gain	1.0000
X:101398834:T:A	donor_gain	1.0000
X:101401691:C:CA	donor_gain	1.0000
X:101401692:C:A	donor_gain	1.0000
X:101401808:ACCTG:A	acceptor_loss	1.0000
X:101401810:C:G	acceptor_loss	1.0000
X:101403806:CTCA:C	donor_loss	1.0000
X:101403807:TCAC:T	donor_loss	1.0000
X:101403808:CACAT:C	donor_loss	1.0000
X:101403809:A:AC	donor_gain	1.0000
X:101403810:C:CC	donor_gain	1.0000
X:101403810:CA:C	donor_gain	1.0000
X:101403810:CATA:C	donor_gain	1.0000
X:101403810:CATAA:C	donor_gain	1.0000
X:101403981:TCTCA:T	acceptor_gain	1.0000
X:101403982:CTCA:C	acceptor_gain	1.0000
X:101403982:CTCAC:C	acceptor_gain	1.0000
X:101403983:TCA:T	acceptor_gain	1.0000
X:101403983:TCACT:T	acceptor_gain	1.0000
X:101403984:CA:C	acceptor_gain	1.0000

AlphaMissense

1476 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:73641050:G:C	F193L	0.967
2:73641050:G:T	F193L	0.967
2:73641052:A:G	F193L	0.967
2:73641137:A:C	F164L	0.940
2:73641137:A:T	F164L	0.940
2:73641139:A:G	F164L	0.940
2:73641051:A:G	F193S	0.931
2:73641302:G:C	F109L	0.891
2:73641302:G:T	F109L	0.891
2:73641304:A:G	F109L	0.891
2:73641301:A:G	W110R	0.849
2:73641301:A:T	W110R	0.849
2:73641530:G:C	F33L	0.849
2:73641530:G:T	F33L	0.849
2:73641532:A:G	F33L	0.849
2:73641303:A:G	F109S	0.830
2:73641299:C:A	W110C	0.819
2:73641299:C:G	W110C	0.819
2:73641051:A:C	F193C	0.816
2:73641135:G:T	A165D	0.815
2:73641052:A:C	F193V	0.813
2:73641603:T:G	Y9S	0.812
2:73641295:C:G	A112P	0.804
2:73641428:G:C	S67R	0.800
2:73641428:G:T	S67R	0.800
2:73641430:T:G	S67R	0.800
2:73641052:A:T	F193I	0.791
2:73641111:A:T	V173D	0.791
2:73641422:G:C	S69R	0.780
2:73641422:G:T	S69R	0.780

dbSNP variants (sampled 300 via entrez): RS1000395476 (2:73643766 C>G,T), RS1000825308 (2:73640327 A>T), RS1001439377 (2:73644234 A>G), RS1003125111 (2:73640682 A>C,G), RS1004792574 (2:73641781 G>T), RS1005145245 (2:73641981 A>C,G), RS1006408124 (2:73643078 G>A), RS1006864895 (2:73642277 G>A), RS1006917161 (2:73642061 C>G), RS1007249442 (2:73643205 C>G), RS1012052409 (2:73641757 G>A,T), RS1013777070 (2:73642711 T>A,C), RS1014057810 (2:73644209 C>G,T), RS1014111801 (2:73643978 C>G,T), RS1015590593 (2:73641622 G>A,C)

Disease associations

OMIM: gene MIM:606716 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

91 associations (top):

Study	Trait	p-value
GCST000649_14	Chronic kidney disease	5.000000e-14
GCST000651_1	Creatinine levels	1.000000e-15
GCST001217_12	Metabolic traits	5.000000e-252
GCST001220_3	Metabolite levels	1.000000e-11
GCST001923_2	Glomerular filtration rate	2.000000e-09
GCST001923_4	Glomerular filtration rate	4.000000e-08
GCST001923_5	Glomerular filtration rate	6.000000e-09
GCST002119_21	Metabolite levels (X-11787)	2.000000e-23
GCST002388_7	Serum metabolite levels	4.000000e-66
GCST003119_10	Urinary metabolites	1.000000e-95
GCST004292_10	Glomerular filtration rate (creatinine)	3.000000e-18
GCST005648_35	Serum metabolite concentrations in chronic kidney disease	1.000000e-62
GCST005649_6	Urinary metabolite ratios in chronic kidney disease	2.000000e-12
GCST005649_7	Urinary metabolite ratios in chronic kidney disease	6.000000e-18
GCST005649_8	Urinary metabolite ratios in chronic kidney disease	7.000000e-18
GCST005649_9	Urinary metabolite ratios in chronic kidney disease	2.000000e-16
GCST005651_2	Urinary metabolite levels in chronic kidney disease	1.000000e-11
GCST006249_12	Serum metabolite levels	9.000000e-149
GCST006249_35	Serum metabolite levels	3.000000e-37
GCST006249_51	Serum metabolite levels	9.000000e-22
GCST006249_56	Serum metabolite levels	1.000000e-54
GCST007344_96	Estimated glomerular filtration rate	6.000000e-22
GCST007876_75	Estimated glomerular filtration rate	7.000000e-25
GCST009733_162	Urinary metabolite levels in chronic kidney disease	3.000000e-43
GCST009733_163	Urinary metabolite levels in chronic kidney disease	6.000000e-163
GCST009733_164	Urinary metabolite levels in chronic kidney disease	7.000000e-159
GCST009733_167	Urinary metabolite levels in chronic kidney disease	3.000000e-249
GCST009733_172	Urinary metabolite levels in chronic kidney disease	4.000000e-113
GCST009733_173	Urinary metabolite levels in chronic kidney disease	9.000000e-30
GCST009733_174	Urinary metabolite levels in chronic kidney disease	4.000000e-24

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004725	metabolite measurement
EFO:0005276	hydroxy-leucine measurement
EFO:0005116	urinary metabolite measurement
EFO:0004509	hemoglobin measurement
EFO:0010977	macrovascular complications of diabetes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	4
Aflatoxin B1	increases expression, affects expression, decreases methylation	4
Cyclosporine	decreases expression	3
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
coumarin	increases phosphorylation	1
S-1,2-dichlorovinyl-N-acetylcysteine	increases expression	1
CGP 52608	increases reaction, affects binding	1
Zoledronic Acid	decreases expression	1
Acetaminophen	decreases expression	1
Amphotericin B	decreases expression	1
Arecoline	decreases expression	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Estradiol	increases expression	1
Phenobarbital	affects expression	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.