TRIM50

Summary

TRIM50 (tripartite motif containing 50, HGNC:19017) is a protein-coding gene on chromosome 7q11.23, encoding E3 ubiquitin-protein ligase TRIM50 (Q86XT4). E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a ‘Lys-63’-dependent manner enhancing its binding to ULK1.

Enables identical protein binding activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within regulation of establishment of protein localization. Located in cytosol.

Source: NCBI Gene 135892 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 113 total
• MANE Select transcript: NM_178125

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19017
Approved symbol	TRIM50
Name	tripartite motif containing 50
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32804
Ensembl gene	ENSG00000146755
Ensembl biotype	protein_coding
OMIM	612548
Entrez	135892

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000333149, ENST00000453152, ENST00000488217, ENST00000493498, ENST00000956853

RefSeq mRNA: 3 — MANE Select: NM_178125 NM_001281450, NM_001281451, NM_178125

CCDS: CCDS34654

Canonical transcript exons

ENST00000333149 — 7 exons

Exon	Start	End
ENSE00001321825	73312536	73313510
ENSE00001337841	73316565	73316689
ENSE00001337853	73327900	73328082
ENSE00002447313	73318687	73318709
ENSE00002488479	73320147	73320242
ENSE00002507792	73318822	73319052
ENSE00003547899	73324389	73324805

Expression profiles

Bgee: expression breadth ubiquitous, 144 present calls, max score 89.83.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	89.83	gold quality
body of stomach	UBERON:0001161	84.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.78	gold quality
stomach	UBERON:0000945	80.50	gold quality
oocyte	CL:0000023	79.90	gold quality
secondary oocyte	CL:0000655	79.44	gold quality
right testis	UBERON:0004534	78.74	gold quality
left testis	UBERON:0004533	77.58	gold quality
testis	UBERON:0000473	75.53	gold quality
fundus of stomach	UBERON:0001160	75.32	gold quality
pancreas	UBERON:0001264	74.71	gold quality
adult mammalian kidney	UBERON:0000082	71.02	gold quality
cardia of stomach	UBERON:0001162	69.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	66.69	gold quality
kidney	UBERON:0002113	63.83	gold quality
duodenum	UBERON:0002114	61.30	gold quality
cortex of kidney	UBERON:0001225	61.29	gold quality
biceps brachii	UBERON:0001507	59.59	gold quality
nasal cavity epithelium	UBERON:0005384	58.76	gold quality
small intestine Peyer’s patch	UBERON:0003454	58.50	gold quality
skeletal muscle tissue	UBERON:0001134	57.99	gold quality
small intestine	UBERON:0002108	57.91	gold quality
muscle tissue	UBERON:0002385	57.78	gold quality
muscle of leg	UBERON:0001383	57.63	gold quality
gastrocnemius	UBERON:0001388	56.46	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	55.61	gold quality
right adrenal gland	UBERON:0001233	55.37	gold quality
adult organism	UBERON:0007023	55.24	silver quality
vastus lateralis	UBERON:0001379	55.14	gold quality
quadriceps femoris	UBERON:0001377	55.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting TRIM50, 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-3667-3P	99.99	67.17	1636
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-10397-5P	97.31	69.06	710
HSA-MIR-4703-3P	96.68	68.61	545
HSA-MIR-454-5P	96.51	68.35	263
HSA-MIR-642B-5P	96.37	67.26	745
HSA-MIR-362-5P	95.87	66.02	554
HSA-MIR-500B-5P	95.87	66.04	557
HSA-MIR-6877-5P	93.84	61.41	74

Literature-anchored findings (GeneRIF, showing 6)

• Encodes an E3 ubiquitin ligase; putatively involved in phenotype determination of Williams-Beuren syndrome. (PMID:18398435)
• When the proteasome activity is impaired, TRIM50 fails to drive its substrates to the proteasome-mediated degradation. (PMID:22792322)
• TRIM50 K372 residue competes for post-translational protein modifications such as acetylation and ubiquitination. (PMID:24308962)
• TRIM50, via the RING domain, ubiquitinates Beclin 1 in a K63-dependent manner enhancing its binding with ULK1 and autophagy activity. (PMID:29604308)
• TRIM50 acted as a tumor suppressor in hepatocarcinoma cells by directly targeting SNAIL and reversing epithelial-to-mesenchymal transition. (PMID:29789583)
• TRIM50 Inhibits Gastric Cancer Progression by Regulating the Ubiquitination and Nuclear Translocation of JUP. (PMID:37409971)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim50	ENSMUSG00000053388
rattus_norvegicus	Trim50	ENSRNOG00000022483

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM50 — Q86XT4 (reviewed: Q86XT4)

Alternative names: RING-type E3 ubiquitin transferase TRIM50, Tripartite motif-containing protein 50

All UniProt accessions (1): Q86XT4

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a ‘Lys-63’-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Also interacts with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction. Also promotes NLRP3 inflammasome activation by directly inducing NLRP3 oligomerization independent of its E3 ligase function.

Subunit / interactions. Can form dimers and trimers. Interacts with several E2 ubiquitin-conjugating enzymes, including UBE2L6, UBE2E1, UBE2E3. No interaction with UBE2H. Interacts with BECN1. Interacts with SQSTM1. Interacts with NLRP3.

Subcellular location. Cytoplasm.

Post-translational modifications. Auto-ubiquitinated. Acetylated by EP300 and KAT2B. HDAC6 drives TRIM50 deacetylation. Acetylation antagonizes with TRIM50 ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86XT4-1	Alpha	yes
Q86XT4-2	Beta

RefSeq proteins (3): NP_001268379, NP_001268380, NP_835226* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF13445, PF13765

UniProt features (16 total): binding site 4, sequence variant 2, zinc finger region 2, coiled-coil region 2, chain 1, domain 1, modified residue 1, splice variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XT4-F1	86.49	0.56

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 (4): 111; 117; 89; 92

Post-translational modifications (1): 373

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 40 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, IK2_01, chr7q11, AR_01, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, MIR27A_3P_MIR27B_3P, MIR9985, MIR3688_3P, MIR4311

GO Biological Process (1): innate immune response (GO:0045087)

GO Molecular Function (6): zinc ion binding (GO:0008270), identical protein binding (GO:0042802), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
immune response	1
defense response to symbiont	1
transition metal ion binding	1
protein binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

489 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM50	TBL2	Q9Y4P3	787
TRIM50	FKBP6	O75344	778
TRIM50	BBOX1	O75936	762
TRIM50	NSUN5	Q96P11	762
TRIM50	FKBP10	Q96AY3	755
TRIM50	GTF2IRD1	Q9UHL9	744
TRIM50	BCL7B	Q9BQE9	725
TRIM50	CLIP2	Q9UDT6	673
TRIM50	EIF4H	Q15056	657
TRIM50	LIMK1	P53667	640
TRIM50	GTF2I	P78347	634
TRIM50	FZD9	O00144	620
TRIM50	GTF2IRD2	Q86UP8	618
TRIM50	GTF2IRD2B	Q6EKJ0	607
TRIM50	HDAC6	Q9UBN7	591

IntAct

250 interactions, top by confidence:

A	B	Type	Score
TRIM50	LNX1	psi-mi:“MI:0915”(physical association)	0.680
TRIM50	LNX1	psi-mi:“MI:0407”(direct interaction)	0.680
TRIM50	TRIM50	psi-mi:“MI:0915”(physical association)	0.670
TRIM50	XAF1	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	ZNF620	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	UBE2E2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
UBE2D1	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
PIAS2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
EFHC2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	TSSK3	psi-mi:“MI:0915”(physical association)	0.560
UBE2K	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
UBE2D2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	UBE2D4	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	GCC1	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	UBTD1	psi-mi:“MI:0915”(physical association)	0.560
KLHL2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
USP2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	RSPH14	psi-mi:“MI:0915”(physical association)	0.560
CLK2	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	ARHGAP45	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.560
TRIM50	IQUB	psi-mi:“MI:0915”(physical association)	0.560
RAD23A	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
PLA2G6	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
FAM221B	TRIM50	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	TRIM50	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (87): TNK2 (Affinity Capture-Western), TRIM50 (Affinity Capture-Western), BECN1 (Affinity Capture-Western), SRC (Affinity Capture-Western), TRIM50 (Affinity Capture-Western), SRC (Reconstituted Complex), SRC (Biochemical Activity), UBE2D1 (Reconstituted Complex), SNAI1 (Affinity Capture-Western), SNAI1 (Co-localization), SNAI1 (Reconstituted Complex), TRIM50 (Two-hybrid), TRIM50 (Two-hybrid), TRIM50 (Two-hybrid), TRIM50 (Two-hybrid)

ESM2 similar proteins: A0JPQ4, E1BD59, O15197, P0C0K6, P62603, Q14142, Q1XH17, Q1XH18, Q3UWZ0, Q5BK82, Q5JZY3, Q5M929, Q5NCC3, Q5RBG2, Q5RKG6, Q5TM55, Q5W0U4, Q640S6, Q6P6S3, Q6PGR9, Q6PJ69, Q6ZMU5, Q7TPM3, Q7YR32, Q80VI1, Q80X56, Q80YW5, Q810I1, Q810I2, Q865W2, Q86UV6, Q86UV7, Q86XT4, Q8BFW4, Q8BVW3, Q8BYG9, Q8C006, Q8C0E3, Q8IUD6, Q8K243

Diamond homologs: A0JNG4, E9QHE3, I1VZH0, Q11096, Q1XH17, Q3V3A7, Q6ZRF8, Q865W2, Q86XT4, A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM50	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Assembly and cell surface presentation of NMDA receptors	6	29.9×	5e-06
Neurexins and neuroligins	7	27.0×	1e-06
Antigen processing: Ubiquitination & Proteasome degradation	9	6.6×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	7	50.9×	3e-08
protein localization to synapse	5	47.9×	7e-06
receptor clustering	6	46.8×	7e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	5	31.0×	5e-05
protein K63-linked ubiquitination	5	16.7×	5e-04
protein K48-linked ubiquitination	6	12.6×	4e-04
cell-cell adhesion	8	10.2×	8e-05
chemical synaptic transmission	7	6.8×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	101
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1036 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73313506:CGGGG:C	acceptor_gain	1.0000
7:73313511:C:CC	acceptor_gain	1.0000
7:73316559:CCTCA:C	donor_loss	1.0000
7:73316560:CTCAC:C	donor_loss	1.0000
7:73316561:TCA:T	donor_loss	1.0000
7:73316562:CA:C	donor_loss	1.0000
7:73316563:ACC:A	donor_loss	1.0000
7:73316564:C:CT	donor_loss	1.0000
7:73316685:CTGCT:C	acceptor_gain	1.0000
7:73316686:TGCT:T	acceptor_gain	1.0000
7:73316687:GCTCT:G	acceptor_loss	1.0000
7:73316688:CT:C	acceptor_gain	1.0000
7:73316689:TCTGC:T	acceptor_loss	1.0000
7:73316690:C:CA	acceptor_loss	1.0000
7:73316690:C:CC	acceptor_gain	1.0000
7:73318817:CTCA:C	donor_loss	1.0000
7:73318818:TCA:T	donor_loss	1.0000
7:73318819:CA:C	donor_loss	1.0000
7:73318820:A:AC	donor_gain	1.0000
7:73318820:A:C	donor_loss	1.0000
7:73318820:AC:A	donor_gain	1.0000
7:73318821:C:CC	donor_gain	1.0000
7:73318821:C:CT	donor_loss	1.0000
7:73318821:CC:C	donor_gain	1.0000
7:73319049:CATT:C	acceptor_gain	1.0000
7:73319053:C:CC	acceptor_gain	1.0000
7:73320145:A:AC	donor_gain	1.0000
7:73320146:C:CT	donor_gain	1.0000
7:73320146:CG:C	donor_gain	1.0000
7:73320146:CGA:C	donor_gain	1.0000

AlphaMissense

3172 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73313295:C:A	G364W	0.997
7:73313389:G:C	F332L	0.997
7:73313389:G:T	F332L	0.997
7:73313391:A:G	F332L	0.997
7:73313294:C:T	G364E	0.996
7:73313271:G:T	R372S	0.995
7:73313295:C:G	G364R	0.994
7:73313295:C:T	G364R	0.994
7:73313304:A:G	W361R	0.994
7:73313304:A:T	W361R	0.994
7:73313372:A:T	V338D	0.994
7:73324742:A:G	C16R	0.994
7:73313232:A:G	W385R	0.993
7:73313232:A:T	W385R	0.993
7:73324631:A:G	C53R	0.993
7:73313132:A:G	L418P	0.992
7:73313294:C:A	G364V	0.991
7:73313332:C:A	W351C	0.991
7:73313332:C:G	W351C	0.991
7:73313334:A:G	W351R	0.991
7:73313334:A:T	W351R	0.991
7:73324491:G:C	F99L	0.991
7:73324491:G:T	F99L	0.991
7:73324493:A:G	F99L	0.991
7:73313300:C:G	R362P	0.990
7:73324466:A:G	C108R	0.990
7:73313030:G:T	P452H	0.989
7:73313111:A:T	L425H	0.989
7:73316595:A:G	W282R	0.989
7:73316595:A:T	W282R	0.989

dbSNP variants (sampled 300 via entrez): RS111279110 (7:73313160 C>A,G,T), RS111398281 (7:73324262 C>A,T), RS111399096 (7:73328368 C>G,T), RS111638818 (7:73324531 G>A,T), RS111773860 (7:73319312 G>C), RS111844626 (7:73322168 T>C), RS112003602 (7:73325802 T>C), RS112290231 (7:73316179 A>C,G), RS112475552 (7:73322328 G>A), RS112809122 (7:73326731 GT>G,GTT), RS112910219 (7:73320558 C>T), RS113241101 (7:73324568 C>A,T), RS113247135 (7:73329538 G>A,T), RS113327385 (7:73329559 T>C), RS113555906 (7:73326126 G>A)

Disease associations

OMIM: gene MIM:612548 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001537_6	Immune reponse to smallpox (secreted IL-12p40)	3.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
OTX015	decreases expression	1
mivebresib	decreases expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
resorcinol	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	affects response to substance	1
Benzo(a)pyrene	increases methylation	1
Carmustine	affects response to substance	1
Diethylhexyl Phthalate	decreases expression	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Silicon Dioxide	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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