LZTS1

Summary

LZTS1 (leucine zipper tumor suppressor 1, HGNC:13861) is a protein-coding gene on chromosome 8p21.3, encoding Leucine zipper putative tumor suppressor 1 (Q9Y250). Involved in the regulation of cell growth.

This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer.

Source: NCBI Gene 11178 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 479 total — 3 pathogenic
• Phenotypes (HPO): 2
• MANE Select transcript: NM_021020

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13861
Approved symbol	LZTS1
Name	leucine zipper tumor suppressor 1
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	FEZ1
Ensembl gene	ENSG00000061337
Ensembl biotype	protein_coding
OMIM	606551
Entrez	11178

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000265801, ENST00000381569, ENST00000522290

RefSeq mRNA: 2 — MANE Select: NM_021020 NM_001362884, NM_021020

CCDS: CCDS6015

Canonical transcript exons

ENST00000381569 — 4 exons

Exon	Start	End
ENSE00000683383	20252782	20253585
ENSE00001489164	20246165	20250363
ENSE00001489171	20254837	20255315
ENSE00001489172	20303740	20303963

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 94.60.

FANTOM5 (CAGE): breadth broad, TPM avg 3.6502 / max 77.3062, expressed in 684 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92165	2.3413	587
92164	1.2710	426
92163	0.0378	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.60	gold quality
ganglionic eminence	UBERON:0004023	91.65	gold quality
nucleus accumbens	UBERON:0001882	86.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.55	gold quality
primary visual cortex	UBERON:0002436	85.44	gold quality
right frontal lobe	UBERON:0002810	85.41	gold quality
caudate nucleus	UBERON:0001873	84.86	gold quality
amygdala	UBERON:0001876	84.57	gold quality
prefrontal cortex	UBERON:0000451	84.47	gold quality
putamen	UBERON:0001874	84.47	gold quality
frontal cortex	UBERON:0001870	83.72	gold quality
neocortex	UBERON:0001950	83.68	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.58	gold quality
anterior cingulate cortex	UBERON:0009835	82.85	gold quality
cingulate cortex	UBERON:0003027	82.82	gold quality
telencephalon	UBERON:0001893	82.55	gold quality
cerebral cortex	UBERON:0000956	82.43	gold quality
temporal lobe	UBERON:0001871	82.39	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.21	gold quality
endothelial cell	CL:0000115	81.98	silver quality
superior frontal gyrus	UBERON:0002661	80.89	gold quality
occipital lobe	UBERON:0002021	80.85	gold quality
apex of heart	UBERON:0002098	80.63	gold quality
entorhinal cortex	UBERON:0002728	80.52	gold quality
middle temporal gyrus	UBERON:0002771	80.16	gold quality
forebrain	UBERON:0001890	79.75	gold quality
postcentral gyrus	UBERON:0002581	78.51	gold quality
Ammon’s horn	UBERON:0001954	78.40	gold quality
CA1 field of hippocampus	UBERON:0003881	77.96	gold quality
parietal lobe	UBERON:0001872	77.29	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-109979	yes	276.04
E-GEOD-75140	yes	223.00
E-GEOD-135922	yes	9.51
E-ANND-3	no	3.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

195 targeting LZTS1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-3148	99.97	75.06	6478
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-7152-3P	99.97	67.47	849
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-10527-5P	99.91	72.28	3754

Literature-anchored findings (GeneRIF, showing 15)

• variation in the germline sequence is associated with prostate cancer risk (PMID:12377406)
• Down-regulation of FEZ1/LZTS1 gene with frequent loss of heterozygosity is associated with oral squamous cell carcinomas (PMID:12851677)
• Forced expression of LZTS1 in metastasizing uveal melanoma cells inhibited their motility and invasion, whereas depletion of LZTS1 increased their motility. (PMID:18559591)
• Down-regulation of tumor suppressor gene FEZ1/LZTS1 in breast carcinoma involves promoter methylation and associates with metastasis. (PMID:18686028)
• The reduction or loss of FEZ1 protein could be an aid to the clinical management of patients affected by ovarian carcinoma. (PMID:19885841)
• Lower levels of leucine zipper putative tumor suppressor 1 correlated with high histologic grade, lymph node metastasis, and poor prognosis. (PMID:21419475)
• Expression of miR-135b, LZTS1, LATS2 and nuclear TAZ predicts poor outcomes of non-small-cell lung cancer. (PMID:23695671)
• Lzts1 was significantly downregulated in breast cancer samples and its deregulation was associated with a higher incidence of tumor recurrence, and to a worse overall survival. (PMID:24448468)
• miR-214 functions as an onco-miRNA in osteosarcoma, and its oncogenic effects are mediated chiefly through downregulation of LZTS1 (PMID:24802407)
• Suggest that LZTS1 plays a potential tumor suppressor role in colorectal cancer progression and represents a valuable clinical prognostic marker of this disease. (PMID:25667121)
• LZTS1 promoter was frequently methylated in IMPC samples. (PMID:25813822)
• miR-135b expression inversely correlated with LZTS1 staining intensity and the Cutaneous Squamous Cell Carcinoma grade. (PMID:25938461)
• missense variant in the LZTS1 gene was identified in two Ehlers-Danlos syndrome patients in an extended family. (PMID:26504261)
• Compared with the normal hepatocyte cells, LZTS1 expression in hepatocellular carcinoma cells was significantly lower (PMID:26653561)
• Unveiling the oncogenic role of LZTS1 in colorectal cancer. (PMID:39023696)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lzts1	ENSDARG00000075565
mus_musculus	Lzts1	ENSMUSG00000036306
rattus_norvegicus	Lzts1	ENSRNOG00000011826
drosophila_melanogaster	CG15365	FBGN0030077
caenorhabditis_elegans		WBGENE00018033

Paralogs (2): LZTS3 (ENSG00000088899), LZTS2 (ENSG00000107816)

Protein

Protein identifiers

Leucine zipper putative tumor suppressor 1 — Q9Y250 (reviewed: Q9Y250)

Alternative names: F37/esophageal cancer-related gene-coding leucine-zipper motif, Fez1

All UniProt accessions (1): Q9Y250

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor.

Subunit / interactions. Binds EEF1G, TLK2 and CDK1.

Subcellular location. Cytoplasm. Cell membrane. Cell projection. Dendritic spine. Postsynaptic density. Synapse.

Tissue specificity. Highly expressed in testis, prostate, spleen, thymus, ovary and brain. Detected at lower levels in heart, placenta, small intestine, colon, liver, kidney, skeletal muscle and pancreas. Not detectable in primary tumors from breast and prostate and in many cancer cell lines.

Post-translational modifications. Phosphorylated on serine residues. Hyperphosphorylated by the cAMP-dependent kinase PKA during cell-cycle progression. Ubiquitinated by the ECS(ASB7) complex, leading to its degradation.

Disease relevance. Esophageal cancer (ESCR) [MIM:133239] A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous. Defects in LZTS1 are found in many types of tumors.

Similarity. Belongs to the LZTS family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q9Y250-1	1	yes
Q9Y250-2	2
Q9Y250-3	3
Q9Y250-4	4
Q9Y250-5	5
Q9Y250-6	6
Q9Y250-7	7

RefSeq proteins (2): NP_001349813, NP_066300* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR045329	LZTS	Family

Pfam: PF06818

UniProt features (22 total): splice variant 7, sequence variant 4, compositionally biased region 3, region of interest 2, helix 2, initiator methionine 1, chain 1, coiled-coil region 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8Y1U	X-RAY DIFFRACTION	2.41

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y250-F1	69.56	0.39

Functional residue map

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

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 361 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_REGULATION_OF_AUTOPHAGY, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VACUOLE_ORGANIZATION, GOBP_SYNAPSE_ASSEMBLY, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_NEUROGENESIS

GO Biological Process (4): negative regulation of macroautophagy (GO:0016242), regulation of synaptic plasticity (GO:0048167), regulation of dendrite morphogenesis (GO:0048814), regulation of postsynapse assembly (GO:0150052)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendritic spine (GO:0043197), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of autophagy	1
macroautophagy	1
regulation of macroautophagy	1
modulation of chemical synaptic transmission	1
regulation of biological quality	1
regulation of anatomical structure morphogenesis	1
dendrite morphogenesis	1
regulation of dendrite development	1
regulation of synapse assembly	1
postsynapse assembly	1
regulation of postsynapse organization	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
dendrite	1
neuron spine	1
postsynapse	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

795 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LZTS1	FEZ2	Q9UHY8	794
LZTS1	SIPA1L1	O43166	787
LZTS1	DLEC1	Q9Y238	731
LZTS1	RNF6	Q9Y252	670
LZTS1	S100A14	Q9HCY8	650
LZTS1	SHANK3	Q9BYB0	586
LZTS1	ATF5	Q9Y2D1	580
LZTS1	CDK1	P06493	574
LZTS1	ADH1B	P00325	541
LZTS1	CCNB1	P14635	497
LZTS1	ALDH2	P05091	479
LZTS1	WWOX	Q9NZC7	429
LZTS1	KATNB1	Q9BVA0	428
LZTS1	ATP8A2	Q9NTI2	426
LZTS1	SLC52A3	Q9NQ40	425

IntAct

306 interactions, top by confidence:

A	B	Type	Score
CDC25C	CDK1	psi-mi:“MI:0914”(association)	0.620
METTL21A	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
MCRS1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
TSGA10	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
GAS8	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
RUNX1T1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
GOLGA1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
ENKD1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
PPP1R18	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
PRPF18	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
CKS1B	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
SGF29	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
QARS1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
POLR1C	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
PICK1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
GPKOW	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
KIF9	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
TCEA2	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
DDX6	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
MID2	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
CDC23	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
TBC1D7	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
LMO1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
MAPK9	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
PSMA1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
SYT6	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
PSPC1	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
CARD9	LZTS1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (129): LZTS1 (Affinity Capture-MS), LZTS1 (Affinity Capture-MS), LZTS1 (Affinity Capture-MS), LZTS1 (Affinity Capture-MS), LZTS1 (Affinity Capture-MS), LZTS1 (Two-hybrid), LZTS1 (Two-hybrid), LZTS1 (Two-hybrid), LZTS1 (Two-hybrid), LZTS1 (Two-hybrid), TBC1D1 (Two-hybrid), GPKOW (Two-hybrid), LNX1 (Two-hybrid), AP1M1 (Two-hybrid), RUNX1T1 (Two-hybrid)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2CE83, B8A5S6, E7F5E1, F7DP49, H2MTR9, O08970, O35711, O60296, P27628, P53564, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q3UIJ9, Q4V7D3, Q5BIX7, Q5R923, Q5SXA9, Q5SZL2, Q5U2Y9, Q5U4W1, Q5ZLT3, Q6AW69, Q6DIS8, Q6DJR2, Q6NRW2, Q6NXJ0, Q6P402, Q6PCQ0, Q6PD31, Q7TQE6, Q80ST9, Q86W92, Q8BMK0, Q8C8U0, Q8CFC9

Diamond homologs: A0A1L8GUX5, A0A1L8GXY6, A2AHG0, O15049, O60299, P60853, Q3LUD3, Q3LUD4, Q5U4W1, Q5ZLT3, Q6DIS8, Q8C7U1, Q8CFC9, Q8K1Q4, Q91YU6, Q9Y250, A5PKL7, Q9BRK4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	271
Likely benign	160
Benign	29

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	Pathogenic
4245	NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro)	Pathogenic
4246	NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)	Pathogenic

SpliceAI

3375 predictions. Top by Δscore:

Variant	Effect	Δscore
11:125448563:GAGAA:G	acceptor_gain	1.0000
11:125448565:GAA:G	acceptor_gain	1.0000
11:125448568:C:CC	acceptor_gain	1.0000
11:125452327:AACTC:A	donor_loss	1.0000
11:125452328:ACT:A	donor_loss	1.0000
11:125452329:CTC:C	donor_loss	1.0000
11:125452330:TCACT:T	donor_loss	1.0000
11:125452331:CACT:C	donor_loss	1.0000
11:125452332:A:AC	donor_gain	1.0000
11:125452333:C:CG	donor_gain	1.0000
11:125452333:CT:C	donor_gain	1.0000
11:125452333:CTG:C	donor_gain	1.0000
11:125452333:CTGT:C	donor_gain	1.0000
11:125452405:AGATA:A	acceptor_gain	1.0000
11:125452406:GATA:G	acceptor_gain	1.0000
11:125452408:TA:T	acceptor_gain	1.0000
11:125452408:TACTG:T	acceptor_loss	1.0000
11:125452410:C:A	acceptor_loss	1.0000
11:125452410:C:CC	acceptor_gain	1.0000
11:125452411:T:G	acceptor_loss	1.0000
11:125454124:GCGTA:G	donor_loss	1.0000
11:125454125:CGTA:C	donor_loss	1.0000
11:125454126:GTAC:G	donor_loss	1.0000
11:125454127:TA:T	donor_loss	1.0000
11:125454128:A:C	donor_loss	1.0000
11:125454129:C:G	donor_loss	1.0000
11:125454209:CG:C	acceptor_gain	1.0000
11:125454211:C:CC	acceptor_gain	1.0000
11:125460492:CCTCA:C	donor_loss	1.0000
11:125460493:CTCA:C	donor_loss	1.0000

AlphaMissense

3891 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:20252785:C:A	W382C	1.000
8:20252785:C:G	W382C	1.000
8:20252787:A:G	W382R	1.000
8:20252787:A:T	W382R	1.000
8:20249876:A:G	L546P	0.999
8:20249917:C:A	W532C	0.999
8:20249917:C:G	W532C	0.999
8:20249919:A:G	W532R	0.999
8:20249919:A:T	W532R	0.999
8:20250320:A:G	L398P	0.999
8:20250332:A:G	L394P	0.999
8:20250335:A:G	L393P	0.999
8:20250356:T:G	Q386P	0.999
8:20252786:C:G	W382S	0.999
8:20249885:T:G	Q543P	0.998
8:20249889:A:C	Y542D	0.998
8:20250328:C:A	K395N	0.998
8:20250328:C:G	K395N	0.998
8:20250341:A:G	I391T	0.998
8:20250347:C:T	G389D	0.998
8:20252876:A:G	L352P	0.998
8:20252897:A:G	L345P	0.998
8:20252918:A:G	L338P	0.998
8:20253388:G:C	S181R	0.998
8:20253388:G:T	S181R	0.998
8:20253390:T:G	S181R	0.998
8:20255173:G:C	S3R	0.998
8:20255173:G:T	S3R	0.998
8:20255175:T:G	S3R	0.998
8:20255178:C:G	G2R	0.998

dbSNP variants (sampled 300 via entrez): RS1000000362 (8:20298980 C>A,G), RS1000093410 (8:20298745 T>C), RS1000149870 (8:20263021 G>A), RS1000156878 (8:20273661 C>T), RS1000195243 (8:20277984 G>A), RS1000205076 (8:20277785 C>T), RS1000382728 (8:20249571 A>C,G), RS1000390459 (8:20283016 C>G), RS1000398173 (8:20305696 A>T), RS1000399006 (8:20293232 T>C), RS1000451911 (8:20288316 G>T), RS1000498502 (8:20261470 C>A,T), RS1000545425 (8:20267842 C>T), RS1000562385 (8:20281275 G>C), RS1000589154 (8:20302569 T>C)

Disease associations

OMIM: gene MIM:606551 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0001442	Typified by somatic mosaicism
HP:0011459	Esophageal carcinoma

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000551_3	Major depressive disorder (broad)	7.000000e-07
GCST001713_8	Dental caries	2.000000e-06
GCST001786_21	Dental caries	8.000000e-06
GCST001949_17	Preeclampsia	2.000000e-06
GCST001979_5	Circulating myeloperoxidase levels (serum)	9.000000e-07
GCST003123_19	Severe influenza A (H1N1) infection	3.000000e-32
GCST003125_12	Influenza A (H1N1) infection	1.000000e-13
GCST003615_3	Persistent hepatitis B virus infection	3.000000e-12
GCST007843_14	Rheumatoid arthritis	4.000000e-08
GCST010988_289	Adult body size	2.000000e-09
GCST012198_5	Interleukin-6 levels	1.000000e-06
GCST012490_549	Femur bone mineral density x serum urate levels interaction	6.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005243	myeloperoxidase measurement
EFO:1001488	influenza A (H1N1)
EFO:0004810	interleukin-6 measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation, affects cotreatment, increases expression	6
trichostatin A	affects cotreatment, increases expression	3
Aflatoxin B1	decreases methylation, increases expression	3
entinostat	affects cotreatment, increases expression	2
Zoledronic Acid	affects cotreatment, increases expression, decreases expression	2
Vorinostat	affects cotreatment, increases expression, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	decreases expression	1
FR900359	affects phosphorylation	1
sotorasib	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
lasiocarpine	increases expression	1
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
ferrous chloride	decreases expression	1
mercuric bromide	increases expression, affects cotreatment	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Fluvastatin	affects cotreatment, increases expression	1
Aldehydes	increases expression	1
Calcitriol	increases expression	1

Clinical trials (associated diseases)

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