SETD4

Summary

SETD4 (SET domain containing 4, HGNC:1258) is a protein-coding gene on chromosome 21q22.12, encoding SET domain-containing protein 4 (Q9NVD3). Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins.

Enables histone H4K20 methyltransferase activity. Predicted to be involved in several processes, including positive regulation of inflammatory response; positive regulation of macromolecule biosynthetic process; and regulation of cell proliferation in bone marrow. Located in cytosol and nucleus.

Source: NCBI Gene 54093 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 72 total
• Druggable target: yes
• MANE Select transcript: NM_017438

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1258
Approved symbol	SETD4
Name	SET domain containing 4
Location	21q22.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185917
Ensembl biotype	protein_coding
OMIM	620995
Entrez	54093

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 27 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000332131, ENST00000399201, ENST00000399205, ENST00000399207, ENST00000399208, ENST00000399212, ENST00000399215, ENST00000424303, ENST00000429161, ENST00000442559, ENST00000443703, ENST00000446166, ENST00000460704, ENST00000469482, ENST00000481477, ENST00000485865, ENST00000487297, ENST00000902513, ENST00000902514, ENST00000902515, ENST00000902516, ENST00000902517, ENST00000931864, ENST00000931865, ENST00000931866, ENST00000931867, ENST00000931868, ENST00000931869, ENST00000962396, ENST00000962397, ENST00000962398, ENST00000962399

RefSeq mRNA: 4 — MANE Select: NM_017438 NM_001007259, NM_001007261, NM_001286752, NM_017438

CCDS: CCDS13640, CCDS42923, CCDS74791, CCDS74792

Canonical transcript exons

ENST00000332131 — 12 exons

Exon	Start	End
ENSE00001536980	36060347	36060526
ENSE00001957727	36034541	36035960
ENSE00003468436	36058816	36058924
ENSE00003480255	36053583	36053620
ENSE00003480317	36038150	36038273
ENSE00003545287	36048308	36048396
ENSE00003582817	36043782	36043956
ENSE00003584489	36041807	36041888
ENSE00003594407	36040575	36040655
ENSE00003682516	36057109	36057204
ENSE00003687277	36036085	36036251
ENSE00003690844	36045582	36046011

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 91.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2704 / max 104.1038, expressed in 1770 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190350	7.1602	1747
190349	1.0059	590
190351	0.8549	502
209304	0.2409	109
190352	0.0085	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	91.52	gold quality
right uterine tube	UBERON:0001302	90.98	gold quality
sural nerve	UBERON:0015488	90.38	gold quality
secondary oocyte	CL:0000655	89.41	gold quality
left testis	UBERON:0004533	88.73	gold quality
right testis	UBERON:0004534	88.58	gold quality
calcaneal tendon	UBERON:0003701	88.56	gold quality
ventricular zone	UBERON:0003053	88.25	gold quality
metanephros cortex	UBERON:0010533	88.06	gold quality
testis	UBERON:0000473	87.78	gold quality
cortical plate	UBERON:0005343	87.64	gold quality
vagina	UBERON:0000996	87.43	gold quality
right lobe of thyroid gland	UBERON:0001119	87.11	gold quality
left lobe of thyroid gland	UBERON:0001120	86.99	gold quality
body of uterus	UBERON:0009853	86.78	gold quality
skin of abdomen	UBERON:0001416	86.77	gold quality
body of pancreas	UBERON:0001150	86.68	gold quality
thyroid gland	UBERON:0002046	86.60	gold quality
minor salivary gland	UBERON:0001830	86.56	gold quality
skin of leg	UBERON:0001511	86.49	gold quality
endocervix	UBERON:0000458	86.45	gold quality
ectocervix	UBERON:0012249	86.45	gold quality
ganglionic eminence	UBERON:0004023	86.34	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.27	gold quality
esophagus mucosa	UBERON:0002469	86.22	gold quality
tibial nerve	UBERON:0001323	86.06	gold quality
rectum	UBERON:0001052	85.70	gold quality
tendon	UBERON:0000043	85.63	gold quality
right ovary	UBERON:0002118	85.61	gold quality
adenohypophysis	UBERON:0002196	85.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting SETD4, 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-302C-5P	99.97	72.56	3642
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-5189-5P	97.72	66.96	1814
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-612	97.26	65.95	1597
HSA-MIR-6860	97.21	66.31	1656
HSA-MIR-509-3-5P	97.21	67.74	1517

Literature-anchored findings (GeneRIF, showing 2)

• High SETD4 expression is associated with Breast Cancer. (PMID:31308046)
• SETD4 inhibits prostate cancer development by promoting H3K27me3-mediated NUPR1 transcriptional repression and cell cycle arrest. (PMID:37879429)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	setd4	ENSDARG00000036592
mus_musculus	Setd4	ENSMUSG00000022948
rattus_norvegicus	Setd4	ENSRNOG00000001699
drosophila_melanogaster	CG33230	FBGN0053230
caenorhabditis_elegans	set-29	WBGENE00022371

Paralogs (2): SETD6 (ENSG00000103037), SETD3 (ENSG00000183576)

Protein

Protein identifiers

SET domain-containing protein 4 — Q9NVD3 (reviewed: Q9NVD3)

All UniProt accessions (7): A8MTS1, C9J256, C9JIU9, C9JPA1, C9JWV5, C9JYV0, Q9NVD3

UniProt curated annotations — full annotation on UniProt →

Function. Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins. Via its catalytic activity, regulates many processes, including cell proliferation, cell differentiation, inflammatory response and apoptosis. Regulates the inflammatory response by mediating mono- and dimethylation of ‘Lys-4’ of histone H3 (H3K4me1 and H3K4me2, respectively), leading to activate the transcription of pro-inflammatory cytokines IL6 and TNF. Through the catalysis of TBK1 monomethylation, may regulate virus-induced interferon signaling. TBK1 monomethylation enhances its interaction with MAVS, STING and IRF3, hence promoting antiviral interferon signaling. Also involved in the regulation of stem cell quiescence by catalyzing the trimethylation of ‘Lys-20’ of histone H4 (H4K20me3), thereby promoting heterochromatin formation. In the brain, epigenetically controls quiescence of neural stem cells for sustaining a protected neural stem cell population and maintaining a stem cell reservoir for neurogenesis. Involved in proliferation, migration, paracrine and myogenic differentiation of bone marrow mesenchymal stem cells (BMSCs). Through the catalysis of XRCC5/Ku70 trimethylation, regulates BAX-mediated apoptosis. SETD4-catalyzed XRCC5 methylation results in XRCC5 translocation to the cytoplasm, where it interacts with BAX, sequestering it from the mitochondria, hence preventing BAX-mediated apoptosis.

Subunit / interactions. Forms a ternary complex with TBK1 and ZNF268; the interaction with TBK1 is ZNF268-dependent and leads to TBK1 monomethylation.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the class V-like SAM-binding methyltransferase superfamily. SETD4 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NVD3-1	A	yes
Q9NVD3-2	B
Q9NVD3-3	3
Q9NVD3-4	4

RefSeq proteins (4): NP_001007260, NP_001007262, NP_001273681, NP_059134* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001214	SET_dom	Domain
IPR015353	Rubisco_LSMT_subst-bd	Domain
IPR016852	SET_MeTrfase	Family
IPR036464	Rubisco_LSMT_subst-bd_sf	Homologous_superfamily
IPR044429	SETD4_SET	Domain
IPR046341	SET_dom_sf	Homologous_superfamily
IPR050600	SETD3_SETD6_MTase	Family

Pfam: PF00856, PF09273

Catalyzed reactions (Rhea), 6 shown:

• L-lysyl-[protein] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl-[protein] + S-adenosyl-L-homocysteine + H(+) (RHEA:51736)
• L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+) (RHEA:60264)
• N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+) (RHEA:60268)
• L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+) (RHEA:60344)
• N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+) (RHEA:60348)
• N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+) (RHEA:61992)

UniProt features (17 total): mutagenesis site 5, splice variant 4, sequence variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVD3-F1	93.17	0.88

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 (1): 272

Mutagenesis-validated functional residues (5):

Position	Phenotype
61	abolished histone-lysine n-methyltransferase activity.
233	abolished histone-lysine n-methyltransferase activity.
236–237	loss of the ability to promote sendai virus-induced ifnb1 promoter activation.
272	loss of n-methyltransferase activity toward xrcc6; when associated f-284.
284	loss of n-methyltransferase activity toward xrcc6; when associated f-272.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 162 (showing top): GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE, GOBP_CHROMATIN_REMODELING, chr21q22, GOBP_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_METHYLATION, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (9): chromatin remodeling (GO:0006338), inflammatory response (GO:0006954), methylation (GO:0032259), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of inflammatory response (GO:0050729), regulation of cell proliferation in bone marrow (GO:0071863), peptidyl-lysine trimethylation (GO:0018023)

GO Molecular Function (12): transcription coactivator activity (GO:0003713), histone H4K20 methyltransferase activity (GO:0042799), histone H3K4 methyltransferase activity (GO:0042800), histone H3K36 methyltransferase activity (GO:0046975), histone H4K20me methyltransferase activity (GO:0140941), histone H4K20 monomethyltransferase activity (GO:0140944), histone H3K4 monomethyltransferase activity (GO:0140945), protein binding (GO:0005515), methyltransferase activity (GO:0008168), protein-lysine N-methyltransferase activity (GO:0016279), transferase activity (GO:0016740), histone methyltransferase activity (GO:0042054)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-lysine N-methyltransferase activity	3
positive regulation of DNA-templated transcription	2
histone H3 methyltransferase activity	2
histone H4K20 methyltransferase activity	2
protein methyltransferase activity	2
cellular anatomical structure	2
chromatin organization	1
defense response	1
metabolic process	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
inflammatory response	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of inflammatory response	1
regulation of cell population proliferation	1
cell proliferation in bone marrow	1
peptidyl-lysine methylation	1
transcription coregulator activity	1
histone H4 methyltransferase activity	1
histone H3K4 methyltransferase activity	1
binding	1
transferase activity, transferring one-carbon groups	1
lysine N-methyltransferase activity	1
catalytic activity	1
histone modifying activity	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1784 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SETD4	SETD6	Q8TBK2	725
SETD4	PRDM15	P57071	616
SETD4	KIAA1958	Q8N8K9	616
SETD4	SETD5	Q9C0A6	568
SETD4	SETDB2	Q96T68	534
SETD4	SETD3	Q86TU7	514
SETD4	PRDM10	Q9NQV6	505
SETD4	PRDM4	Q9UKN5	501
SETD4	SETD7	Q8WTS6	499
SETD4	SMYD4	Q8IYR2	477
SETD4	ASH1L	Q9NR48	472
SETD4	SETD1A	O15047	465
SETD4	SETD1B	Q9UPS6	465
SETD4	SETD2	Q9BYW2	456
SETD4	FTCD	O95954	455

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PCGF1	CBX4	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
SETD4	TADA3	psi-mi:“MI:0914”(association)	0.350
SETD4	PMM2	psi-mi:“MI:0914”(association)	0.350
IMPDH1	MGST3	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): SETD4 (Affinity Capture-RNA), SETD4 (Co-fractionation), SETD4 (Co-fractionation), SETD4 (Co-fractionation), GBE1 (Affinity Capture-MS), GDF15 (Affinity Capture-MS), TADA3 (Affinity Capture-MS), WWP1 (Affinity Capture-MS), LRRC59 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), SETD4 (Two-hybrid), SETD4 (Negative Genetic), SETD4 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), RPL37A (Affinity Capture-MS)

ESM2 similar proteins: A4D126, A7MCT6, C3VPR6, D3ZSK5, E1C5V0, E9PYK3, P50747, P58467, Q14CH1, Q1JP61, Q3TYX3, Q497B8, Q5BKC6, Q5F3V0, Q5I0C5, Q5ND52, Q5R5X9, Q5ZIZ2, Q5ZK17, Q6E804, Q6GMV2, Q6GQ33, Q7TQ07, Q7TQC5, Q7YRZ2, Q7Z2E3, Q7Z5Q5, Q80WC9, Q8BK58, Q8BTK5, Q8IYR2, Q8K3Z0, Q8K4H4, Q8N371, Q8NFZ0, Q8R5A0, Q8TBK2, Q920N2, Q96DP5, Q96EN8

Diamond homologs: A0A140C435, P58467, Q9NVD3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3890 predictions. Top by Δscore:

Variant	Effect	Δscore
21:36043828:T:TA	donor_gain	1.0000
21:36043833:ATT:A	donor_gain	1.0000
21:36058810:CCATA:C	donor_loss	1.0000
21:36058811:CATAC:C	donor_loss	1.0000
21:36058812:ATAC:A	donor_loss	1.0000
21:36058813:TACCT:T	donor_loss	1.0000
21:36058814:A:T	donor_loss	1.0000
21:36058814:ACCT:A	donor_gain	1.0000
21:36058815:C:G	donor_loss	1.0000
21:36058815:CCTC:C	donor_gain	1.0000
21:36058817:T:TA	donor_gain	1.0000
21:36058920:CAGTT:C	acceptor_gain	1.0000
21:36070352:G:GT	donor_gain	1.0000
21:36070352:GGA:G	donor_gain	1.0000
21:36070353:G:GT	donor_gain	1.0000
21:36070355:G:GG	donor_gain	1.0000
21:36070368:G:GT	donor_gain	1.0000
21:36070403:GG:G	donor_gain	1.0000
21:36070404:GGTA:G	donor_gain	1.0000
21:36070945:A:AG	acceptor_gain	1.0000
21:36070946:A:G	acceptor_gain	1.0000
21:36070946:AAAGT:A	acceptor_loss	1.0000
21:36070947:AAGTT:A	acceptor_gain	1.0000
21:36070948:A:AG	acceptor_gain	1.0000
21:36070948:AGT:A	acceptor_loss	1.0000
21:36070949:G:GG	acceptor_gain	1.0000
21:36070949:G:GT	acceptor_loss	1.0000
21:36070949:GTT:G	acceptor_gain	1.0000
21:36071054:CAAGG:C	donor_loss	1.0000
21:36071055:AAGGT:A	donor_loss	1.0000

AlphaMissense

2856 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:36043825:A:C	F286L	0.993
21:36043825:A:T	F286L	0.993
21:36043827:A:G	F286L	0.993
21:36045688:C:A	R207I	0.986
21:36045622:G:T	A229D	0.982
21:36057159:A:G	L40P	0.978
21:36045597:A:C	H237Q	0.977
21:36045597:A:T	H237Q	0.977
21:36045607:A:G	L234P	0.977
21:36043829:C:T	G285E	0.976
21:36045619:G:T	P230Q	0.975
21:36045688:C:G	R207T	0.975
21:36045687:T:A	R207S	0.974
21:36045687:T:G	R207S	0.974
21:36045609:G:C	D233E	0.972
21:36045609:G:T	D233E	0.972
21:36045610:T:A	D233V	0.971
21:36045697:A:T	V204D	0.971
21:36057113:A:C	F55L	0.970
21:36057113:A:T	F55L	0.970
21:36057115:A:G	F55L	0.970
21:36053605:A:G	L62P	0.966
21:36043829:C:A	G285V	0.965
21:36045691:G:A	T206I	0.965
21:36043833:A:G	Y284H	0.964
21:36045599:G:C	H237D	0.964
21:36045611:C:G	D233H	0.964
21:36045610:T:G	D233A	0.963
21:36057163:A:G	W39R	0.960
21:36057163:A:T	W39R	0.960

dbSNP variants (sampled 300 via entrez): RS1000184863 (21:36035128 G>A,C), RS1000216089 (21:36034920 G>A), RS1000409769 (21:36041273 AC>A), RS1000444826 (21:36062268 A>G), RS1000466265 (21:36041071 A>C), RS1000470098 (21:36034983 G>A), RS1000482421 (21:36045263 C>A,T), RS1000519106 (21:36036589 A>G), RS1000628351 (21:36039339 G>A), RS1001056411 (21:36051160 G>A,C,T), RS1001141117 (21:36054131 C>T), RS1001146852 (21:36039605 C>T), RS1001226101 (21:36034224 C>T), RS1001432460 (21:36040507 C>T), RS1001463433 (21:36046591 C>T)

Disease associations

OMIM: gene MIM:620995 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_364	Obesity-related traits	5.000000e-06
GCST003094_3	Mitral valve prolapse	1.000000e-08
GCST007993_22	Asthma (adult onset)	5.000000e-08
GCST009391_2057	Metabolite levels	7.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:1002011	adult onset asthma
EFO:0010345	cholesteryl ester 18:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4742323 (PROTEIN-PROTEIN INTERACTION)

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

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9024	CBR1, SETD4	3	5.75	2	anthracyclines and related substances;doxorubicin
rs20572	CBR1, SETD4	3	3.50	2	cyclophosphamide;doxorubicin;fluorouracil;doxorubicin;doxorubicinol
rs1143663	CBR1, SETD4		0.00	0
rs41557318	CBR1, SETD4		0.00	0

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
dicrotophos	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Acetaldehyde	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4713753	Binding	Protac activity at CRBN/SETD4 in human BxPC-3 cells assessed as SETD4 degradation incubated for 16 hrs by proteomic analysis	Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TK69	HAP1 SETD4 (-) 1	Cancer cell line	Male
CVCL_XS60	HAP1 SETD4 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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