CES3

Summary

CES3 (carboxylesterase 3, HGNC:1865) is a protein-coding gene on chromosome 16q22.1, encoding Carboxylesterase 3 (Q6UWW8). Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.

This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.

Source: NCBI Gene 23491 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_024922

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1865
Approved symbol	CES3
Name	carboxylesterase 3
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21736, ES31
Ensembl gene	ENSG00000172828
Ensembl biotype	protein_coding
OMIM	605279
Entrez	23491

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000303334, ENST00000394037, ENST00000543856, ENST00000564715, ENST00000566453, ENST00000566746, ENST00000568118, ENST00000570236, ENST00000885488

RefSeq mRNA: 3 — MANE Select: NM_024922 NM_001185176, NM_001185177, NM_024922

CCDS: CCDS10826, CCDS54022, CCDS54023

Canonical transcript exons

ENST00000303334 — 13 exons

Exon	Start	End
ENSE00001103970	66971172	66971319
ENSE00001144228	66966244	66966345
ENSE00001214417	66966725	66966865
ENSE00001843560	66961266	66961389
ENSE00003490560	66972356	66972505
ENSE00003501422	66972668	66972746
ENSE00003515615	66963491	66963629
ENSE00003529653	66964357	66964510
ENSE00003560735	66963802	66963935
ENSE00003581349	66969679	66969759
ENSE00003606067	66963179	66963383
ENSE00003657713	66964623	66964727
ENSE00003843485	66972854	66975149

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 95.59.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0042 / max 64.1409, expressed in 370 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154545	0.6205	278
154544	0.2281	113
154546	0.1556	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.59	gold quality
rectum	UBERON:0001052	92.70	gold quality
colonic mucosa	UBERON:0000317	92.50	gold quality
right lobe of liver	UBERON:0001114	91.50	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.42	gold quality
ileal mucosa	UBERON:0000331	90.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.90	gold quality
gastrocnemius	UBERON:0001388	89.71	gold quality
jejunal mucosa	UBERON:0000399	88.41	gold quality
transverse colon	UBERON:0001157	88.40	gold quality
muscle of leg	UBERON:0001383	88.23	gold quality
duodenum	UBERON:0002114	87.72	gold quality
lower esophagus mucosa	UBERON:0035834	87.33	gold quality
pancreatic ductal cell	CL:0002079	86.33	silver quality
liver	UBERON:0002107	85.28	gold quality
muscle organ	UBERON:0001630	84.98	gold quality
tendon of biceps brachii	UBERON:0008188	84.88	silver quality
gluteal muscle	UBERON:0002000	83.66	silver quality
small intestine Peyer’s patch	UBERON:0003454	82.42	gold quality
nephron tubule	UBERON:0001231	82.37	gold quality
small intestine	UBERON:0002108	81.94	gold quality
right uterine tube	UBERON:0001302	80.80	gold quality
minor salivary gland	UBERON:0001830	80.26	gold quality
metanephric glomerulus	UBERON:0004736	79.66	silver quality
renal glomerulus	UBERON:0000074	79.46	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.08	gold quality
adult mammalian kidney	UBERON:0000082	79.05	gold quality
biceps brachii	UBERON:0001507	78.84	silver quality
intestine	UBERON:0000160	78.82	gold quality
colonic epithelium	UBERON:0000397	78.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.22

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARG, SP1

miRNA regulators (miRDB)

57 targeting CES3, 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-6748-5P	100.00	65.81	1057
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-542-3P	99.34	67.58	1270

Literature-anchored findings (GeneRIF, showing 4)

• pharmacogenomic characterization of human carboxylesterase 1A1, 1A2, and 1A3 genes (PMID:18794728)
• CES3 seems to have a lower catalytic efficiency than the other two CESs for selected substrates. (PMID:19508181)
• Studies indicate that CES3 mRNA isoform expression in several tissues, particularly in colon, trachea and in brain. (PMID:20422440)
• This study provides the first evidence of functional compensation whereby increased expression of CES3 restores intracellular cholesteryl ester hydrolytic activity and free cholesterol efflux in CES1-deficient cells. (PMID:22700792)

Cross-species orthologs

46 orthologs

Organism	Symbol	Gene ID
danio_rerio	ces2b	ENSDARG00000101726
danio_rerio		ENSDARG00000104818
mus_musculus	Ces3b	ENSMUSG00000062181
mus_musculus	Ces3a	ENSMUSG00000069922
drosophila_melanogaster	Est-6	FBGN0000592
drosophila_melanogaster	Est-P	FBGN0000594
drosophila_melanogaster	Glt	FBGN0001114
drosophila_melanogaster	Jhe	FBGN0010052
drosophila_melanogaster	alpha-Est1	FBGN0015568
drosophila_melanogaster	alpha-Est10	FBGN0015569
drosophila_melanogaster	alpha-Est2	FBGN0015570
drosophila_melanogaster	alpha-Est3	FBGN0015571
drosophila_melanogaster	alpha-Est4	FBGN0015572
drosophila_melanogaster	alpha-Est6	FBGN0015574
drosophila_melanogaster	alpha-Est7	FBGN0015575
drosophila_melanogaster	alpha-Est8	FBGN0015576
drosophila_melanogaster	alpha-Est9	FBGN0015577
drosophila_melanogaster	CG4757	FBGN0027584
drosophila_melanogaster	CG9287	FBGN0032057
drosophila_melanogaster	CG9289	FBGN0032058
drosophila_melanogaster	CG3841	FBGN0032131
drosophila_melanogaster	CG4382	FBGN0032132
drosophila_melanogaster	Jhedup	FBGN0034076
drosophila_melanogaster	gas	FBGN0034736
drosophila_melanogaster	alpha-Est5	FBGN0261393
caenorhabditis_elegans		WBGENE00000037
caenorhabditis_elegans		WBGENE00000038
caenorhabditis_elegans		WBGENE00007691
caenorhabditis_elegans		WBGENE00007692
caenorhabditis_elegans		WBGENE00007693
caenorhabditis_elegans		WBGENE00007695
caenorhabditis_elegans		WBGENE00008451
caenorhabditis_elegans		WBGENE00011362
caenorhabditis_elegans		WBGENE00011364
caenorhabditis_elegans		WBGENE00013873
caenorhabditis_elegans		WBGENE00013874
caenorhabditis_elegans		WBGENE00013875
caenorhabditis_elegans		WBGENE00015067
caenorhabditis_elegans		WBGENE00015071
caenorhabditis_elegans		WBGENE00015279
caenorhabditis_elegans		WBGENE00015284
caenorhabditis_elegans		WBGENE00016595
caenorhabditis_elegans		WBGENE00016862
caenorhabditis_elegans		WBGENE00016863
caenorhabditis_elegans	cest-27	WBGENE00018958
caenorhabditis_elegans		WBGENE00020688

Paralogs (13): TG (ENSG00000042832), ACHE (ENSG00000087085), BCHE (ENSG00000114200), NLGN4X (ENSG00000146938), CES5A (ENSG00000159398), NLGN4Y (ENSG00000165246), NLGN1 (ENSG00000169760), NLGN2 (ENSG00000169992), CEL (ENSG00000170835), CES4A (ENSG00000172824), CES2 (ENSG00000172831), NLGN3 (ENSG00000196338), CES1 (ENSG00000198848)

Protein

Protein identifiers

Carboxylesterase 3 — Q6UWW8 (reviewed: Q6UWW8)

Alternative names: Liver carboxylesterase 31 homolog

All UniProt accessions (4): Q6UWW8, A0A0C4DFY7, H3BRE5, H3BUA3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Expressed in liver, colon and small intestine.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the type-B carboxylesterase/lipase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6UWW8-1	1	yes
Q6UWW8-2	2

RefSeq proteins (3): NP_001172105, NP_001172106, NP_079198* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002018	CarbesteraseB	Domain
IPR019826	Carboxylesterase_B_AS	Active_site
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050309	Type-B_Carboxylest/Lipase	Family

Pfam: PF00135

Catalyzed reactions (Rhea), 1 shown:

• a carboxylic ester + H2O = an alcohol + a carboxylate + H(+) (RHEA:21164)

UniProt features (20 total): sequence variant 8, active site 3, sequence conflict 2, disulfide bond 2, signal peptide 1, chain 1, short sequence motif 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWW8-F1	91.89	0.83

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): 229 (acyl-ester intermediate); 347 (charge relay system); 460 (charge relay system)

Disulfide bonds (2): 97–124, 281–292

Glycosylation sites (1): 105

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-211945	Phase I - Functionalization of compounds
R-HSA-8964038	LDL clearance

MSigDB gene sets: 105 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, chr16q22, GOBP_LOW_DENSITY_LIPOPROTEIN_PARTICLE_CLEARANCE, GOBP_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, GOBP_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, XU_GH1_EXOGENOUS_TARGETS_DN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, GSE13522_WT_VS_IFNG_KO_SKIN_DN, SWEET_LUNG_CANCER_KRAS_UP, OHGUCHI_LIVER_HNF4A_TARGETS_DN, SERVITJA_LIVER_HNF1A_TARGETS_DN

GO Biological Process (2): xenobiotic metabolic process (GO:0006805), low-density lipoprotein particle clearance (GO:0034383)

GO Molecular Function (3): carboxylic ester hydrolase activity (GO:0052689), carboxylesterase activity (GO:0106435), hydrolase activity (GO:0016787)

GO Cellular Component (4): endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Biological oxidations	1
Plasma lipoprotein clearance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
metabolic process	1
cellular response to xenobiotic stimulus	1
plasma lipoprotein particle clearance	1
low-density lipoprotein particle disassembly	1
hydrolase activity, acting on ester bonds	1
carboxylic ester hydrolase activity	1
catalytic activity	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cellular anatomical structure	1
extracellular vesicle	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CES3	ESD	P10768	860
CES3	LIPE	Q05469	781
CES3	TNFRSF13C	Q96RJ3	743
CES3	HAGH	Q16775	673
CES3	ADH5	P11766	581
CES3	PPARA	Q07869	554
CES3	SECISBP2	Q96T21	502
CES3	KLK1	P06870	454
CES3	LTF	P02788	448
CES3	RPS7	P23821	447
CES3	KLK10	O43240	433
CES3	AADAC	P22760	429
CES3	P0DN79	P0DN79	425
CES3	SOAT1	P35610	420
CES3	DPY30	Q9C005	416

IntAct

146 interactions, top by confidence:

A	B	Type	Score
SUOX	CES3	psi-mi:“MI:0914”(association)	0.530
CES3	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	DLG5	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	DVL3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
LNX1	CES3	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
CES3	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (24): CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), CES3 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS), CES3 (Affinity Capture-MS)

ESM2 similar proteins: A1Y9I9, A4D1Z8, B6CZ62, C0HJA6, C0HJA9, C0HM80, O95868, P00304, P05542, P0C8D4, P10887, P19977, P19978, P19979, P19981, P19983, P20914, P21800, P22042, P23002, P41502, P55736, P80487, P80537, P80538, P80539, P80540, P81064, P81216, P81246, P81647, P81648, P82447, P83830, P84633, Q5E985, Q5EA85, Q5GFL6, Q5RCL7, Q62178

Diamond homologs: A0A060S684, A0A0E4AET8, A0A443HK52, D4ASH1, D4AZ78, D4B1N9, I1RDA9, I6Y9F7, O08710, O16168, O16169, O16170, O16171, O16172, O46421, O62760, O62761, P01266, P01267, P04058, P06882, P07692, P08171, P10959, P12337, P12992, P16303, P16854, P17573, P18142, P20261, P21836, P21837, P21927, P22394, P23795, P25725, P25726, P30122, P32749

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
Ras activation upon Ca2+ influx through NMDA receptor	5	43.9×	6e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	41.8×	6e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	41.8×	6e-06
Long-term potentiation	5	36.6×	9e-06
Assembly and cell surface presentation of NMDA receptors	9	35.1×	4e-10
Neurexins and neuroligins	10	30.3×	2e-10
Protein-protein interactions at synapses	6	24.5×	7e-06
RHOB GTPase cycle	5	11.9×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	67.3×	2e-15
protein localization to synapse	6	48.4×	3e-07
receptor clustering	7	46.0×	4e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	36.5×	1e-07
protein-containing complex assembly	9	10.8×	1e-05
cell-cell adhesion	10	10.7×	4e-06
chemical synaptic transmission	7	5.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	83
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2285 predictions. Top by Δscore:

Variant	Effect	Δscore
16:66963485:CCACA:C	acceptor_loss	1.0000
16:66963488:CAGGT:C	acceptor_loss	1.0000
16:66963490:G:T	acceptor_loss	1.0000
16:66963601:C:G	donor_gain	1.0000
16:66963630:G:GG	donor_gain	1.0000
16:66964346:A:AG	acceptor_gain	1.0000
16:66964355:A:AG	acceptor_gain	1.0000
16:66964356:G:GG	acceptor_gain	1.0000
16:66964356:GC:G	acceptor_gain	1.0000
16:66964356:GCACT:G	acceptor_gain	1.0000
16:66964506:GCCTG:G	donor_gain	1.0000
16:66964509:TG:T	donor_gain	1.0000
16:66964510:GG:G	donor_gain	1.0000
16:66964511:G:GA	donor_loss	1.0000
16:66964511:G:GG	donor_gain	1.0000
16:66964612:AAT:A	acceptor_gain	1.0000
16:66964617:A:AG	acceptor_gain	1.0000
16:66964618:C:G	acceptor_gain	1.0000
16:66964619:CCA:C	acceptor_loss	1.0000
16:66964621:AGGT:A	acceptor_loss	1.0000
16:66966239:CCCA:C	acceptor_loss	1.0000
16:66966241:CA:C	acceptor_loss	1.0000
16:66966242:A:AG	acceptor_gain	1.0000
16:66966242:AG:A	acceptor_loss	1.0000
16:66966243:G:GG	acceptor_gain	1.0000
16:66966243:GA:G	acceptor_gain	1.0000
16:66966243:GAA:G	acceptor_gain	1.0000
16:66966243:GAAA:G	acceptor_gain	1.0000
16:66966339:G:GT	donor_gain	1.0000
16:66966342:GCTG:G	donor_gain	1.0000

AlphaMissense

3747 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:66963274:T:C	F60L	0.988
16:66963276:T:A	F60L	0.988
16:66963276:T:G	F60L	0.988
16:66963289:T:C	F65L	0.987
16:66963291:T:A	F65L	0.987
16:66963291:T:G	F65L	0.987
16:66963928:T:C	F185L	0.986
16:66963930:C:A	F185L	0.986
16:66963930:C:G	F185L	0.986
16:66972733:T:C	F503L	0.984
16:66972735:T:A	F503L	0.984
16:66972735:T:G	F503L	0.984
16:66964397:G:C	D201H	0.983
16:66972724:T:A	W500R	0.981
16:66972724:T:C	W500R	0.981
16:66963896:T:A	V174D	0.980
16:66964398:A:T	D201V	0.979
16:66963494:C:G	C97W	0.977
16:66963910:C:A	R179S	0.976
16:66964384:C:A	N196K	0.973
16:66964384:C:G	N196K	0.973
16:66972737:C:A	A504D	0.973
16:66972460:T:C	F466L	0.970
16:66972462:T:A	F466L	0.970
16:66972462:T:G	F466L	0.970
16:66972703:A:C	S493R	0.970
16:66972705:C:A	S493R	0.970
16:66972705:C:G	S493R	0.970
16:66972734:T:C	F503S	0.970
16:66963275:T:C	F60S	0.968

dbSNP variants (sampled 300 via entrez): RS1000038179 (16:66971375 G>A), RS1000091655 (16:66971143 G>A), RS1000285868 (16:66967163 A>G), RS1000580779 (16:66975132 A>G), RS1001013068 (16:66960405 CTT>C), RS1001056218 (16:66975010 A>C,G), RS1001157235 (16:66972379 T>A,C), RS1001209362 (16:66972030 G>C), RS1001230751 (16:66960000 G>A), RS1001442935 (16:66965921 C>T), RS1001872387 (16:66970713 C>T), RS1001925025 (16:66970333 C>T), RS1002105305 (16:66975515 G>A), RS1002279876 (16:66959790 G>A), RS1002335392 (16:66959442 C>A,T)

Disease associations

OMIM: gene MIM:605279 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006979_626	Heel bone mineral density	2.000000e-17
GCST90002393_272	Monocyte count	5.000000e-12
GCST90002407_558	White blood cell count	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0005091	monocyte count

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
Resveratrol	increases expression, decreases expression, affects cotreatment	2
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	2
aristolochic acid I	increases expression	1
methyleugenol	decreases expression	1
4-nitrophenyl acetate	increases hydrolysis	1
senkirkine	decreases expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
4-nitrophenyl butyrate	increases hydrolysis	1
RPR 121056	increases hydrolysis	1
Irinotecan	increases hydrolysis	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methapyrilene	decreases methylation	1
Paraoxon	decreases activity	1
Phenylmethylsulfonyl Fluoride	decreases activity	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Bisphenol A-Glycidyl Methacrylate	increases expression, decreases reaction	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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