SETD6

Summary

SETD6 (SET domain containing 6, protein lysine methyltransferase, HGNC:26116) is a protein-coding gene on chromosome 16q21, encoding N-lysine methyltransferase SETD6 (Q8TBK2). Protein-lysine N-methyltransferase.

This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 79918 — RefSeq curated summary.

At a glance

• Gene–disease (curated): colorectal cancer (Limited, GenCC)
• GWAS associations: 94
• Clinical variants (ClinVar): 56 total — 1 pathogenic
• MANE Select transcript: NM_001160305

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26116
Approved symbol	SETD6
Name	SET domain containing 6, protein lysine methyltransferase
Location	16q21
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21148
Ensembl gene	ENSG00000103037
Ensembl biotype	protein_coding
OMIM	616424
Entrez	79918

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000219315, ENST00000310682, ENST00000394266, ENST00000418480, ENST00000422445, ENST00000427443, ENST00000447443, ENST00000463954, ENST00000467320, ENST00000468223, ENST00000470003, ENST00000491587, ENST00000492050, ENST00000898781, ENST00000898782, ENST00000898783, ENST00000938454

RefSeq mRNA: 2 — MANE Select: NM_001160305 NM_001160305, NM_024860

CCDS: CCDS10798, CCDS54013

Canonical transcript exons

ENST00000219315 — 8 exons

Exon	Start	End
ENSE00001281531	58515791	58516097
ENSE00001655755	58518724	58523842
ENSE00001750254	58518051	58518231
ENSE00001923546	58515517	58515564
ENSE00003500819	58516808	58516928
ENSE00003544536	58518401	58518543
ENSE00003582982	58516478	58516672
ENSE00003649304	58516202	58516343

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 95.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0533 / max 76.3213, expressed in 1684 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154465	7.1286	1654
154463	0.5304	285
154464	0.3942	201

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	95.91	gold quality
body of pancreas	UBERON:0001150	93.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.94	gold quality
cerebellar hemisphere	UBERON:0002245	92.92	gold quality
cerebellar cortex	UBERON:0002129	92.87	gold quality
cerebellum	UBERON:0002037	92.44	gold quality
tendon of biceps brachii	UBERON:0008188	91.79	gold quality
oocyte	CL:0000023	91.61	gold quality
right uterine tube	UBERON:0001302	90.92	gold quality
right lobe of thyroid gland	UBERON:0001119	90.83	gold quality
left lobe of thyroid gland	UBERON:0001120	90.74	gold quality
cerebellar vermis	UBERON:0004720	90.10	gold quality
thyroid gland	UBERON:0002046	89.95	gold quality
pituitary gland	UBERON:0000007	89.48	gold quality
adenohypophysis	UBERON:0002196	89.45	gold quality
apex of heart	UBERON:0002098	89.39	gold quality
nipple	UBERON:0002030	89.25	gold quality
minor salivary gland	UBERON:0001830	89.19	gold quality
metanephros cortex	UBERON:0010533	89.17	gold quality
right adrenal gland	UBERON:0001233	89.15	gold quality
skin of abdomen	UBERON:0001416	89.09	gold quality
skin of leg	UBERON:0001511	89.09	gold quality
lower esophagus mucosa	UBERON:0035834	88.63	gold quality
pancreas	UBERON:0001264	88.59	gold quality
right adrenal gland cortex	UBERON:0035827	88.54	gold quality
left adrenal gland cortex	UBERON:0035825	88.43	gold quality
saliva-secreting gland	UBERON:0001044	88.40	gold quality
adrenal cortex	UBERON:0001235	88.39	gold quality
body of stomach	UBERON:0001161	88.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting SETD6, 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-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-488-3P	99.61	68.79	1731

Literature-anchored findings (GeneRIF, showing 19)

• SETD6 mono-methylate Rela on K310 and negatively regulates RelA transcription activity (PMID:21131967)
• methylation of the NF-kappaB results in repression of NF-kappaB signaling (PMID:21131967)
• SETD6 monomethylates H2AZ on lysine 7. (PMID:23324626)
• Several chromatin proteins that associate with SETD6 are identified and SETD6 is described as an essential factor for nuclear receptor signaling and cellular proliferation. (PMID:24751716)
• these findings demonstrate that SETD6 negatively regulates the Nrf2-mediated oxidative stress response through a physical and catalytically independent interaction with DJ1 at chromatin. (PMID:26780326)
• PAK4 methylation by SETD6 promotes the activation of the Wnt/beta-catenin pathway. (PMID:26841865)
• High SETD6 expression is associated with bladder cancer. (PMID:28122346)
• Findings suggest that the identified mutation impairs the normal function of SETD6, which may result in the deregulation of the different pathways in which it is involved, contributing to the increased susceptibility to cancer in this FCCTX family. (PMID:28973356)
• Study demonstrates that SETD6 monomeric, dimeric and trimeric forms are stabilized by the methyl donor, S-adenosyl-l-methionine. SETD6 has auto-methylation activity at K39 and K179, which serves as the major auto-methylation sites with a moderate auto-methylation activity toward K372. Data support a model by which SETD6 auto-methylation and self-interaction positively regulate its enzymatic activity in vitro. (PMID:30189201)
• WDR5 was identified as a substrate of SETD6 and it was revealed that the methylation of specific lysines (K207/K325) of WDR5 was critical for maintaining global histone H3K4me3 levels and promoting breast cancer cell proliferation and migration (PMID:30226578)
• During mitosis SETD6 binds and methylates PLK1 (PMID:30622182)
• MiR-411 inhibits gastric cancer proliferation and migration through targeting SETD6. (PMID:31081088)
• Lysine methyltransferase SETD6 modifies histones on a glycine-lysine motif. (PMID:31370726)
• Silencing of SETD6 inhibits the tumorigenesis of oral squamous cell carcinoma by inhibiting methylation of PAK4 and RelA. (PMID:33710605)
• BRD4 methylation by the methyltransferase SETD6 regulates selective transcription to control mRNA translation. (PMID:34039605)
• Structure-function conservation between the methyltransferases SETD3 and SETD6. (PMID:35550916)
• TWIST1 methylation by SETD6 selectively antagonizes LINC-PINT expression in glioma. (PMID:35694846)
• SETD6 Regulates E2-Dependent Human Papillomavirus Transcription. (PMID:36300937)
• Investigating the functional role of SETD6 in lung adenocarcinoma. (PMID:36604642)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	setd6	ENSDARG00000043986
mus_musculus	Setd6	ENSMUSG00000031671
rattus_norvegicus	Setd6	ENSRNOG00000012447

Paralogs (2): SETD3 (ENSG00000183576), SETD4 (ENSG00000185917)

Protein

Protein identifiers

N-lysine methyltransferase SETD6 — Q8TBK2 (reviewed: Q8TBK2)

Alternative names: SET domain-containing protein 6

All UniProt accessions (5): Q8TBK2, C9JCR1, E9PC53, H7C3N0, J3QT10

UniProt curated annotations — full annotation on UniProt →

Function. Protein-lysine N-methyltransferase. Monomethylates ‘Lys-310’ of the RELA subunit of NF-kappa-B complex, leading to down-regulation of NF-kappa-B transcription factor activity. Monomethylates ‘Lys-8’ of H2AZ (H2AZK8me1). Required for the maintenance of embryonic stem cell self-renewal. Methylates PAK4.

Subunit / interactions. Monomer, homodimer and homotrimer; these structures are stabilized in the presence of S-adenosyl-L-methionine (SAM).

Subcellular location. Nucleus.

Post-translational modifications. Automethylated; Lys-39 and Lys-179 serve as the major automethylation sites.

Activity regulation. Activated by automethylation.

Similarity. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TBK2-1	1	yes
Q8TBK2-2	2

RefSeq proteins (2): NP_001153777, NP_079136 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001214	SET_dom	Domain
IPR011383	N-lys_methylase_SETD6	Family
IPR015353	Rubisco_LSMT_subst-bd	Domain
IPR036464	Rubisco_LSMT_subst-bd_sf	Homologous_superfamily
IPR044430	SETD6_SET	Domain
IPR046341	SET_dom_sf	Homologous_superfamily
IPR050600	SETD3_SETD6_MTase	Family

Pfam: PF00856, PF09273

Catalyzed reactions (Rhea), 2 shown:

• L-lysyl-[protein] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl-[protein] + S-adenosyl-L-homocysteine + H(+) (RHEA:51736)
• L-lysyl(8)-[histone H2AZ] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(8)-[histone H2AZ] + S-adenosyl-L-homocysteine + H(+) (RHEA:67808)

UniProt features (67 total): helix 24, strand 11, binding site 9, mutagenesis site 6, sequence variant 5, modified residue 3, sequence conflict 3, turn 3, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3QXY	X-RAY DIFFRACTION	2.09
3RC0	X-RAY DIFFRACTION	2.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBK2-F1	89.53	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.

Ligand- & substrate-binding residues (9): 297; 73–75; 122; 223; 224; 226; 251–252; 262; 297

Post-translational modifications (3): 39, 179, 372

Mutagenesis-validated functional residues (6):

Position	Phenotype
39	greatly decreases automethylation. impairs the methyltransferase activity toward rela and pak4; when associated with arg
179	abolishes automethylation. impairs the methyltransferase activity toward rela and pak4; when associated with arg-39.
283	impairs the methyltransferase activity toward rela.
283	decreases the methyltransferase activity toward rela.
285	abolishes methyltransferase activity. greatly decreases the stability of monomeric, homodimeric and homotrimeric structu
372	has little effect on automethylation level.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214841	PKMTs methylate histone lysines
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization

MSigDB gene sets: 140 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_INFLAMMATORY_RESPONSE, MODULE_453, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_MAINTENANCE_OF_CELL_NUMBER, chr16q21, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE, GOBP_STEM_CELL_DIFFERENTIATION, GOBP_METHYLATION

GO Biological Process (7): peptidyl-lysine monomethylation (GO:0018026), stem cell population maintenance (GO:0019827), obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), stem cell differentiation (GO:0048863), regulation of inflammatory response (GO:0050727), peptidyl-lysine methylation (GO:0018022), methylation (GO:0032259)

GO Molecular Function (6): protein-lysine N-methyltransferase activity (GO:0016279), NF-kappaB binding (GO:0051059), S-adenosyl-L-methionine binding (GO:1904047), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Chromatin organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
peptidyl-lysine methylation	1
multicellular organismal process	1
maintenance of cell number	1
cell differentiation	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
protein methylation	1
peptidyl-lysine modification	1
metabolic process	1
protein methyltransferase activity	1
lysine N-methyltransferase activity	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
cation binding	1
sulfur compound binding	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SETD6	SETD4	Q9NVD3	725
SETD6	SETD7	Q8WTS6	596
SETD6	KMT5A	Q9NQR1	531
SETD6	SCRIB	Q14160	508
SETD6	SETD2	Q9BYW2	494
SETD6	SMYD2	Q9NRG4	492
SETD6	SETD3	Q86TU7	490
SETD6	SMYD3	Q9H7B4	482
SETD6	EHMT2	Q96KQ7	460
SETD6	KMT5B	Q4FZB7	459
SETD6	PRMT6	Q96LA8	452
SETD6	SETD5	Q9C0A6	442
SETD6	SMYD5	Q6GMV2	441
SETD6	SETDB2	Q96T68	431
SETD6	FLII	Q13045	422

IntAct

13 interactions, top by confidence:

A	B	Type	Score
SETD6	Rela	psi-mi:“MI:0213”(methylation reaction)	0.560
Rela	SETD6	psi-mi:“MI:0213”(methylation reaction)	0.560
Rela	SETD6	psi-mi:“MI:0407”(direct interaction)	0.560
SETD6	SETD6	psi-mi:“MI:0213”(methylation reaction)	0.440
SETD6	PPFIA2	psi-mi:“MI:0914”(association)	0.350
RELA	SETD6	psi-mi:“MI:0914”(association)	0.350
rl36a_rl36l_human	IPO5	psi-mi:“MI:0914”(association)	0.350
SETD6	GFPT2	psi-mi:“MI:0914”(association)	0.350
YARS2	UBR5	psi-mi:“MI:0914”(association)	0.350
GTF2IRD1	SETD6	psi-mi:“MI:0403”(colocalization)	0.270
ATXN1	SETD6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): SETD6 (Two-hybrid), SETD6 (Affinity Capture-MS), SETD6 (Affinity Capture-MS), SETD6 (Affinity Capture-MS), RELA (Co-crystal Structure), RELA (Biochemical Activity), RELA (Biochemical Activity), RELA (Reconstituted Complex), SETD6 (Affinity Capture-Western), RELA (Affinity Capture-Western)

ESM2 similar proteins: A0A140C435, A0JMU5, A3KMI0, A4QNG5, C0H8I2, D3ZGS3, D3ZSK5, E1BI64, O00329, O14135, O35904, O74405, P29375, P32019, P41229, P41230, P83501, P94026, Q01968, Q12504, Q30DN6, Q38JA7, Q3UXZ9, Q43088, Q5F3R2, Q5RGL7, Q5XUN4, Q5ZK17, Q5ZM45, Q62240, Q6INM2, Q6IQX0, Q6NVF0, Q7XJS0, Q7ZU90, Q803K4, Q80Y84, Q8BWR4, Q8K337, Q8NB78

Diamond homologs: A4QNG5, C0H8I2, D3ZSK5, E1BI64, Q5ZK17, Q6INM2, Q803K4, Q8TBK2, Q9CWY3, P38222

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	49
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4531616	NM_016284.5(CNOT1):c.6959G>A (p.Trp2320Ter)	Pathogenic

SpliceAI

1299 predictions. Top by Δscore:

Variant	Effect	Δscore
16:58515563:GG:G	donor_gain	1.0000
16:58515564:GG:G	donor_gain	1.0000
16:58516093:GCGAG:G	donor_gain	1.0000
16:58516097:GGT:G	donor_loss	1.0000
16:58516590:G:GT	donor_gain	1.0000
16:58516590:G:T	donor_gain	1.0000
16:58516926:GCG:G	donor_gain	1.0000
16:58516929:G:GG	donor_gain	1.0000
16:58518050:GAATT:G	acceptor_gain	1.0000
16:58518148:AC:A	acceptor_gain	1.0000
16:58518149:C:CA	acceptor_gain	1.0000
16:58518399:A:AG	acceptor_gain	1.0000
16:58518400:G:GG	acceptor_gain	1.0000
16:58521181:A:AC	donor_gain	1.0000
16:58521182:C:CT	donor_gain	1.0000
16:58521182:CTTTT:C	donor_gain	1.0000
16:58521313:GAACT:G	acceptor_gain	1.0000
16:58521314:AACT:A	acceptor_gain	1.0000
16:58521316:CT:C	acceptor_gain	1.0000
16:58521318:C:CC	acceptor_gain	1.0000
16:58521318:CTGG:C	acceptor_loss	1.0000
16:58521319:T:A	acceptor_loss	1.0000
16:58523365:CTTA:C	donor_loss	1.0000
16:58523366:TTA:T	donor_loss	1.0000
16:58523367:TA:T	donor_loss	1.0000
16:58523368:A:AC	donor_gain	1.0000
16:58523368:A:AT	donor_loss	1.0000
16:58523368:AC:A	donor_gain	1.0000
16:58523369:C:CC	donor_gain	1.0000
16:58523369:C:CT	donor_loss	1.0000

AlphaMissense

3063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:58516809:T:C	F225L	0.998
16:58516811:T:A	F225L	0.998
16:58516811:T:G	F225L	0.998
16:58518153:T:C	F299L	0.996
16:58518155:T:A	F299L	0.996
16:58518155:T:G	F299L	0.996
16:58516231:T:A	W122R	0.994
16:58516231:T:C	W122R	0.994
16:58516664:G:A	M221I	0.994
16:58516664:G:C	M221I	0.994
16:58516664:G:T	M221I	0.994
16:58516671:A:C	S224R	0.994
16:58516808:C:A	S224R	0.994
16:58516808:C:G	S224R	0.994
16:58518136:T:C	L293P	0.994
16:58516810:T:C	F225S	0.993
16:58516870:C:A	P245H	0.993
16:58516909:C:A	A258D	0.993
16:58516233:G:C	W122C	0.992
16:58516233:G:T	W122C	0.992
16:58516285:T:A	W140R	0.991
16:58516285:T:C	W140R	0.991
16:58516294:T:G	Y143D	0.991
16:58516342:T:A	W159R	0.991
16:58516342:T:C	W159R	0.991
16:58516810:T:G	F225C	0.991
16:58516879:A:T	D248V	0.990
16:58518151:G:T	G298V	0.990
16:58518189:G:C	A311P	0.990
16:58516253:T:C	L129P	0.989

dbSNP variants (sampled 300 via entrez): RS1000073867 (16:58521497 G>C), RS1000521128 (16:58517040 G>C,T), RS1000742682 (16:58515489 G>A,C), RS1000958598 (16:58520076 T>G), RS1001133129 (16:58522288 T>C), RS1001307137 (16:58519860 G>T), RS1001481327 (16:58522593 T>C), RS1001923105 (16:58520945 G>C), RS1002581938 (16:58519247 A>T), RS1002772828 (16:58513586 G>C), RS1002975654 (16:58522578 ATC>A), RS1003538170 (16:58520885 T>G), RS1003590374 (16:58520620 C>G), RS1004191053 (16:58514831 C>T), RS1004470894 (16:58514872 G>GC)

Disease associations

OMIM: gene MIM:616424 | disease phenotypes: MIM:619033

GenCC curated gene-disease

Disease	Classification	Inheritance
colorectal cancer	Limited	Unknown

Mondo (2): Vissers-Bodmer syndrome (MONDO:0033618), colorectal cancer (MONDO:0005575)

Orphanet (0):

HPO phenotypes

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

GWAS associations

94 associations (top):

Study	Trait	p-value
GCST004521_102	Autism spectrum disorder or schizophrenia	2.000000e-08
GCST004521_239	Autism spectrum disorder or schizophrenia	4.000000e-09
GCST005171_53	QT interval	7.000000e-27
GCST006803_60	Schizophrenia	2.000000e-10
GCST007269_157	Pulse pressure	2.000000e-09
GCST010135_44	Oily fish consumption	2.000000e-08
GCST010140_34	Pork consumption	2.000000e-08
GCST010796_3426	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-42
GCST010796_3427	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-44
GCST010796_3428	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-44
GCST010796_3429	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-44
GCST010796_3451	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-22
GCST010796_3452	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-21
GCST010796_3453	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-21
GCST010796_3454	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-23
GCST010796_3455	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-25
GCST010796_3456	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-26
GCST010796_3457	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-24
GCST010796_3458	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-23
GCST010796_3459	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-26
GCST010796_3460	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-29
GCST010796_3461	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-30
GCST010796_3462	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-30
GCST010796_3463	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-29
GCST010796_3464	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-29
GCST010796_3465	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-32
GCST010796_3466	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-34
GCST010796_3467	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-36
GCST010796_3468	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-38
GCST010796_3469	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-38

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0005763	pulse pressure measurement
EFO:0008111	diet measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression, increases oxidation	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Berberine	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Demecolcine	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Methotrexate	increases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
Quercetin	decreases expression	1
Selenium	decreases expression, affects cotreatment	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vincristine	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00114829	PHASE4	UNKNOWN	Preoperative Assessment of Colon Tumor
NCT00114842	PHASE4	COMPLETED	Magnetic Resonance (MR) Colonography With Fecal Tagging
NCT00114946	PHASE4	TERMINATED	A Study to Compare Two Avastin-Based Treatment Regimens for the Treatment of Metastatic Colorectal Cancer
NCT00122720	PHASE4	COMPLETED	The Effect of Darbepoetin Upon Rehabilitation for Colorectal Cancer Surgery
NCT00129870	PHASE4	TERMINATED	CONCEPT: Comparison of Oxaliplatin vs Conventional Methods With Calcium/Magnesium in First-Line Metastatic Colorectal Cancer
NCT00138060	PHASE4	COMPLETED	Toxicity/Benefit Ratio Optimization of Chemotherapy in Colorectal Cancer (CRC) Patients by Determination of Individual Genotypic Determinants
NCT00216424	PHASE4	TERMINATED	Capecitabine (Xeloda) and Radiation for Patients With Rectosigmoid Carcinoma
NCT00327093	PHASE4	TERMINATED	Elaboration of a Model for Predicting Efficacy of Monoclonal Antibodies (Cetuximab and Bevacizumab) in Patients With Colorectal Cancer and Liver Metastases
NCT00332943	PHASE4	COMPLETED	MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil
NCT00441311	PHASE4	COMPLETED	Dissemination of Colorectal Cancer Screening to Primary Care Physicians
NCT00460837	PHASE4	WITHDRAWN	Comparison of Bowel Preparation in Virtual Colonoscopy (VC) - Patient Experience
NCT00473980	PHASE4	COMPLETED	Preoperative Non-steroidal Anti-inflammatory Drugs(NSAID) to Colorectal Cancer Patients
NCT00488904	PHASE4	COMPLETED	Omega-3 Fatty Acids and Postoperative Complications After Colorectal Surgery
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00502671	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) as Adjuvant Monotherapy in Patients With Colon Cancer.
NCT00559676	PHASE4	COMPLETED	Study of Biomarkers in Patients Undergoing Chemotherapy for Metastatic Colorectal Cancer
NCT00577031	PHASE4	COMPLETED	OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum.
NCT00626054	PHASE4	COMPLETED	Comparison of Two Methods of Administration of a PEG Solution
NCT00812864	PHASE4	COMPLETED	Pharmacokinetic Study of Capecitabine in Elderly Cancer Patient (≥ 75 Years)
NCT00868569	PHASE4	UNKNOWN	Transhepatic Arterial Chemotherapy (TAC) Versus Transcatheter Arterial Chemoembolization (TACE) Plus Folfox4 as the Treatment of Unresectable Liver Metastasis of Colorectal Cancer
NCT00868816	PHASE4	COMPLETED	Oxaliplatine Based Adjuvant Chemotherapy for Stage II/III Colorectal Cancer: 8 Cycles Versus 12 Cycles
NCT00874406	PHASE4	UNKNOWN	Preoperative Transhepatic Arterial Chemotherapy (TAC) in the Treatment of Liver Metastasis of Resectable Colorectal Cancer
NCT00928928	PHASE4	COMPLETED	Oxidative Stress Markers in Open and Laparoscopic Colectomy for Cancer
NCT00942461	PHASE4	COMPLETED	Inflammatory Response in Laparoscopic and Open Colectomy
NCT01023633	PHASE4	UNKNOWN	OPTIMOX1 in Chinese mCRC Patients
NCT01271582	PHASE4	UNKNOWN	Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients
NCT01315990	PHASE4	UNKNOWN	FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema
NCT01493713	PHASE4	COMPLETED	Correlation Between RECIST, Morphologic Response by CT- Histopathologic Response in Hepatic Metastasis Secondary to Colorectal Cancer
NCT01609660	PHASE4	COMPLETED	Impact of Probiotics on the Intestinal Microbiota
NCT01641458	PHASE4	COMPLETED	Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients
NCT01689792	PHASE4	COMPLETED	A Multi-centre Study Comparing the Polyp Detection Rate of Two Different Types of Bowel Preparation: a 2-litre Solution (MOVIPREP®) Versus a Hyperosmotic and Stimulant Combined Low Volume Bowel Preparation (Sodium Picosulfate and Magnesium Citrate)
NCT01695772	PHASE4	COMPLETED	A Study of Bevacizumab Plus 5-Flurouracil (5-FU) Based Doublet Chemotherapy as Neoadjuvant Therapy for Participants With Previously Untreated Unresectable Liver-Only Metastases From Colorectal Cancer
NCT01695863	PHASE4	COMPLETED	Efficacy and Patient Satisfaction of Miralax and Gatorade Versus Movi Prep
NCT01706822	PHASE4	TERMINATED	Radial Reload Laparoscopic LAR Case Series
NCT01740947	PHASE4	TERMINATED	Does Administration of Antibiotics in Patients Undergoing Surgery for Colorectal Cancer Result in Less Complications and Better Prognosis?
NCT01831310	PHASE4	COMPLETED	Nutrition for Colorectal Cancer Patients and Neutrophil Functions
NCT01841294	PHASE4	UNKNOWN	NK Activity Modulation Induced by Intravenous Lidocaine During Colorectal Laparoscopic Surgery
NCT01959061	PHASE4	UNKNOWN	Efficacy and Safety of Raltitrexed-based Transarterial Chemoembolisation(TACE)for Colorectal Cancer Liver Metastases
NCT02032953	PHASE4	UNKNOWN	Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia
NCT02567331	PHASE4	COMPLETED	A Study of Capecitabine (Xeloda) in Patients With Metastatic Colorectal Cancer