MIER1

Summary

MIER1 (MIER1 transcriptional regulator, HGNC:29657) is a protein-coding gene on chromosome 1p31.3, encoding Mesoderm induction early response protein 1 (Q8N108). Transcriptional repressor regulating the expression of a number of genes including SP1 target genes.

This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal.

Source: NCBI Gene 57708 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 62 total
• Druggable target: yes
• MANE Select transcript: NM_001077700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29657
Approved symbol	MIER1
Name	MIER1 transcriptional regulator
Location	1p31.3
Locus type	gene with protein product
Status	Approved
Aliases	hMI-ER1, MI-ER1, KIAA1610
Ensembl gene	ENSG00000198160
Ensembl biotype	protein_coding
OMIM	616848
Entrez	57708

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000355356, ENST00000355977, ENST00000357692, ENST00000371012, ENST00000371014, ENST00000371016, ENST00000371018, ENST00000401041, ENST00000401042, ENST00000479067, ENST00000493357

RefSeq mRNA: 12 — MANE Select: NM_001077700 NM_001077700, NM_001077701, NM_001077702, NM_001077703, NM_001077704, NM_001146110, NM_001146111, NM_001146112, NM_001146113, NM_001278215, NM_001350530, NM_020948

CCDS: CCDS41347, CCDS41348, CCDS53325, CCDS53326, CCDS53327, CCDS53328, CCDS53329, CCDS53330, CCDS60163

Canonical transcript exons

ENST00000401041 — 14 exons

Exon	Start	End
ENSE00001546086	66984572	66988619
ENSE00001640335	66972897	66972991
ENSE00001649965	66959679	66959743
ENSE00001687166	66976595	66976722
ENSE00001747133	66970808	66970959
ENSE00001757141	66981779	66981918
ENSE00001759099	66963088	66963160
ENSE00001776257	66971655	66971736
ENSE00003470562	66926142	66926242
ENSE00003530640	66958059	66958220
ENSE00003555803	66940028	66940052
ENSE00003642034	66958851	66958983
ENSE00003658482	66946150	66946295
ENSE00003907318	66924990	66925095

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 98.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.3669 / max 642.6341, expressed in 1818 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3385	12.9258	1794
3392	10.6664	1707
3395	3.6388	1355
3393	2.1495	1023
3388	1.6686	865
3389	1.0440	600
3387	0.8520	423
3391	0.8491	351
3394	0.5944	318
3386	0.4972	220

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.56	gold quality
colonic epithelium	UBERON:0000397	96.73	gold quality
ileal mucosa	UBERON:0000331	96.08	gold quality
sural nerve	UBERON:0015488	95.10	gold quality
bone marrow	UBERON:0002371	94.61	gold quality
bone marrow cell	CL:0002092	94.56	gold quality
adrenal tissue	UBERON:0018303	94.21	gold quality
colonic mucosa	UBERON:0000317	94.19	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.15	gold quality
upper arm skin	UBERON:0004263	93.36	gold quality
tendon	UBERON:0000043	93.31	gold quality
cauda epididymis	UBERON:0004360	92.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.35	gold quality
monocyte	CL:0000576	91.62	gold quality
leukocyte	CL:0000738	91.53	gold quality
thymus	UBERON:0002370	91.24	gold quality
rectum	UBERON:0001052	91.01	gold quality
urethra	UBERON:0000057	90.77	gold quality
pericardium	UBERON:0002407	90.45	gold quality
caput epididymis	UBERON:0004358	90.30	gold quality
tonsil	UBERON:0002372	90.28	gold quality
layer of synovial tissue	UBERON:0007616	90.05	gold quality
trabecular bone tissue	UBERON:0002483	89.84	gold quality
mucosa of transverse colon	UBERON:0004991	89.58	gold quality
smooth muscle tissue	UBERON:0001135	89.43	gold quality
seminal vesicle	UBERON:0000998	89.33	gold quality
blood	UBERON:0000178	89.26	gold quality
corpus epididymis	UBERON:0004359	89.26	gold quality
tibialis anterior	UBERON:0001385	89.19	silver quality
endometrium	UBERON:0001295	89.02	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-106540	no	584.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
APOF

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

182 targeting MIER1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 11)

• Results demonstrate that alternate use of a facultative intron regulates the subcellular localization of hMI-ER1 proteins and this may have important implications for hMI-ER1 function. (PMID:12242014)
• we investigated the role of hMI-ER1alpha and hMI-ER1beta in the regulation of transcription.We demonstrate that this repressor activity is due to interaction and recruitment of a trichostatin A-sensitive histone deacetylase 1 (HDAC1). (PMID:12482978)
• the association of hMI-ER1 with Sp1 represents a novel mechanism for the negative regulation of Sp1 target promoters (PMID:15117948)
• Loss of nuclear MI-ER1 alpha might contribute to the development of invasive breast carcinoma (PMID:18665173)
• Differential splicing alters subcellular localization of the alpha but not beta isoform of the MIER1 transcriptional regulator in breast cancer cells (PMID:22384264)
• the first immunohistochemical study of the MIER1alpha protein expression pattern in human tissues, is reported. (PMID:23277184)
• nuclear targeting of MIER1alpha requires an intact ELM2 domain and is dependent on interaction with HDAC1/2 (PMID:24376786)
• Insulin and IGF-1 alter the subcellular localization of MIER1alpha in breast carcinoma cells. (PMID:26281834)
• Biochemical analysis of the BAHD1-associated multiprotein complex identifies MIER proteins as novel partners of BAHD1 and suggests that BAHD1-MIER interaction forms a hub for histone deacetylases and methyltransferases (PMID:26938916)
• Histone deacetylase assays confirmed that MIER2, but not MIER3 complexes, have associated deacetylase activity. (PMID:28046085)
• A potential histone-chaperone activity for the MIER1 histone deacetylase complex. (PMID:37099381)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	mier1b	ENSDARG00000001447
danio_rerio	mier1a	ENSDARG00000041072
mus_musculus	Mier1	ENSMUSG00000028522
rattus_norvegicus	Mier1	ENSRNOG00000007175
drosophila_melanogaster	CG1620	FBGN0033183
caenorhabditis_elegans		WBGENE00017352
caenorhabditis_elegans		WBGENE00020320

Paralogs (5): MTA3 (ENSG00000057935), MIER2 (ENSG00000105556), MTA2 (ENSG00000149480), MIER3 (ENSG00000155545), MTA1 (ENSG00000182979)

Protein

Protein identifiers

Mesoderm induction early response protein 1 — Q8N108 (reviewed: Q8N108)

All UniProt accessions (1): Q8N108

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing.

Subunit / interactions. Interacts with HDAC1. Part of a complex containing at least CDYL, MIER1, MIER2, HDAC1 and HDAC2.

Subcellular location. Nucleus Nucleus Nucleus Cytoplasm Cytoplasm Cytoplasm.

Tissue specificity. Ubiquitously expressed, but at very low levels. However, consistent level of expression are observed in heart, testis, thyroid, ovary and adrenal gland. Transcripts are up-regulated in breast carcinoma cell lines and tumor.

Miscellaneous. It is uncertain whether Met-1 or Met-55 is the initiator. It is uncertain whether Met-1 or Met-55 is the initiator.

Isoforms (10)

UniProt ID	Names	Canonical?
Q8N108-11	1, N3-beta	yes
Q8N108-12	2, N2-beta
Q8N108-13	3, N1-beta
Q8N108-14	4, N1-alpha
Q8N108-15	5, N2-alpha
Q8N108-16	6, N3-alpha
Q8N108-17	7
Q8N108-18	8
Q8N108-19	9
Q8N108-20	10

RefSeq proteins (12): NP_001071168, NP_001071169, NP_001071170, NP_001071171, NP_001071172, NP_001139582, NP_001139583, NP_001139584, NP_001139585, NP_001265144, NP_001337459, NP_065999 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000949	ELM2_dom	Domain
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017884	SANT_dom	Domain
IPR040138	MIER/MTA	Family
IPR045787	MIER1/3_C	Domain

Pfam: PF00249, PF01448, PF19426

UniProt features (49 total): modified residue 12, compositionally biased region 10, splice variant 10, sequence conflict 6, region of interest 4, domain 2, cross-link 2, mutagenesis site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N108-F1	62.88	0.18

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 (14): 10, 141, 155, 160, 166, 367, 369, 377, 448, 483, 488, 491, 239, 420

Mutagenesis-validated functional residues (2):

Position	Phenotype
214	loss of transcriptional repression and hdac1 recruitment activity.
227–228	loss of transcriptional repression and hdac1 recruitment activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 219 (showing top): CMYB_01, TTTGTAG_MIR520D, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, MAZ_Q6, TGTGTGA_MIR377, ATTCTTT_MIR186, TGANTCA_AP1_C, TATCTGG_MIR488, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TCCAGAT_MIR5165P, HNF1_C, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ATCATGA_MIR433, CDPCR3HD_01, RGAGGAARY_PU1_Q6

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), positive regulation of canonical NF-kappaB signal transduction (GO:0043123)

GO Molecular Function (4): transcription corepressor activity (GO:0003714), histone deacetylase binding (GO:0042826), histone deacetylase activity (GO:0004407), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), transcription repressor complex (GO:0017053), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of DNA-templated transcription	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
chromatin organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
transcription coregulator activity	1
enzyme binding	1
protein lysine deacetylase activity	1
histone modifying activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
transcription regulator complex	1
cellular_component	1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIER1	HDAC1	Q13547	900
MIER1	HDAC2	Q92769	888
MIER1	ESR1	P03372	796
MIER1	CDYL	Q9Y232	660
MIER1	BAHD1	Q8TBE0	535
MIER1	ESR2	Q92731	479
MIER1	GPER1	Q99527	477
MIER1	BMI1	P35226	456
MIER1	R4GMX3	R4GMX3	456
MIER1	CAV1	Q03135	455
MIER1	MYC	P01106	447
MIER1	EHMT2	Q96KQ7	442
MIER1	CREBBP	Q92793	436
MIER1	MEF2A	Q02078	427
MIER1	ANGEL2	Q5VTE6	420

IntAct

69 interactions, top by confidence:

A	B	Type	Score
HDAC1	MIER1	psi-mi:“MI:0407”(direct interaction)	0.930
MIER1	HDAC1	psi-mi:“MI:0915”(physical association)	0.930
HDAC1	MIER1	psi-mi:“MI:0915”(physical association)	0.930
MIER1	HDAC1	psi-mi:“MI:0914”(association)	0.930
HDAC1	KDM1A	psi-mi:“MI:0914”(association)	0.910
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
EHMT2	WIZ	psi-mi:“MI:0914”(association)	0.730
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
H2AC4	PPM1G	psi-mi:“MI:0914”(association)	0.670
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
C16orf87	CDC27	psi-mi:“MI:0914”(association)	0.640

BioGRID (117): TMEM171 (Two-hybrid), MIER1 (Protein-peptide), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Proximity Label-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS), MIER1 (Affinity Capture-MS)

ESM2 similar proteins: A2AFR3, A6QLZ5, O08838, O94888, O95983, P0C6S7, P21580, P49418, P50478, Q05B58, Q08DU8, Q14161, Q14CM0, Q1RMZ1, Q32KN2, Q3KR37, Q3ZK22, Q497H0, Q5E948, Q5RD48, Q5REE1, Q5REY7, Q5RFL7, Q5U2M7, Q5UAK0, Q5ZIA0, Q5ZKA4, Q60769, Q66H91, Q6DC60, Q6ZPY2, Q7TQF7, Q7Z6G8, Q8BIZ1, Q8BR63, Q8BXK4, Q8IW50, Q8N108, Q8N128, Q8R3V6

Diamond homologs: A5PJX4, O75376, Q3U3N0, Q3UHF3, Q4KKX4, Q4R3R9, Q5REE1, Q5UAK0, Q5ZKT9, Q60974, Q7T105, Q7Z3K6, Q8N108, Q8N344, Q9WU42, Q9Y618, Q0GGX2, Q4R2Z8, Q59E36, Q5ZJ40, Q6PGA0, Q6PJG2, Q8BXJ2, Q8QG78, Q96PN7, Q9H0D2, Q9P2K3, A6QL72, O94776, Q13330, Q62599, Q62901, Q80TZ9, Q8K4B0, Q924K8, Q9BTC8, Q9P2R6, Q9R190, Q90WN5, Q18919

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	13	44.0×	3e-16
Packaging Of Telomere Ends	9	43.9×	6e-12
Recognition and association of DNA glycosylase with site containing an affected purine	9	40.8×	1e-11
Cleavage of the damaged purine	9	40.8×	1e-11
NuRD complex assembly	13	40.7×	4e-16
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3	10	37.3×	2e-12
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	9	36.8×	2e-11
Cleavage of the damaged pyrimidine	9	36.8×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	10	44.8×	7e-12
chromatin remodeling	6	7.7×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2842 predictions. Top by Δscore:

Variant	Effect	Δscore
1:66930397:GGAG:G	donor_gain	1.0000
1:66930398:GAG:G	donor_gain	1.0000
1:66930398:GAGG:G	donor_gain	1.0000
1:66930400:GGT:G	donor_loss	1.0000
1:66930401:G:GG	donor_gain	1.0000
1:66930401:GT:G	donor_loss	1.0000
1:66940025:CAG:C	acceptor_loss	1.0000
1:66940026:A:AG	acceptor_gain	1.0000
1:66940026:AG:A	acceptor_loss	1.0000
1:66940027:G:GA	acceptor_gain	1.0000
1:66940027:GC:G	acceptor_gain	1.0000
1:66940027:GCC:G	acceptor_gain	1.0000
1:66940027:GCCA:G	acceptor_gain	1.0000
1:66940027:GCCAT:G	acceptor_gain	1.0000
1:66940053:G:GG	donor_gain	1.0000
1:66946294:GG:G	donor_gain	1.0000
1:66946295:GG:G	donor_gain	1.0000
1:66958047:T:TA	acceptor_gain	1.0000
1:66958053:A:AG	acceptor_gain	1.0000
1:66958054:TTTA:T	acceptor_loss	1.0000
1:66958055:TTA:T	acceptor_loss	1.0000
1:66958056:TAG:T	acceptor_loss	1.0000
1:66958057:A:AG	acceptor_gain	1.0000
1:66958057:AG:A	acceptor_gain	1.0000
1:66958058:G:GG	acceptor_gain	1.0000
1:66958058:GG:G	acceptor_gain	1.0000
1:66958058:GGAA:G	acceptor_gain	1.0000
1:66958216:ATAAA:A	donor_gain	1.0000
1:66958217:TAAA:T	donor_gain	1.0000
1:66958218:AAA:A	donor_gain	1.0000

AlphaMissense

3783 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:66970834:T:A	W214R	1.000
1:66970834:T:C	W214R	1.000
1:66970877:T:C	L228P	1.000
1:66970948:G:C	D252H	1.000
1:66972911:T:A	W288R	1.000
1:66972911:T:C	W288R	1.000
1:66972912:G:C	W288S	1.000
1:66972913:G:C	W288C	1.000
1:66972913:G:T	W288C	1.000
1:66972923:G:A	E292K	1.000
1:66972935:T:C	F296L	1.000
1:66972936:T:C	F296S	1.000
1:66972937:T:A	F296L	1.000
1:66972937:T:G	F296L	1.000
1:66972940:A:C	E297D	1.000
1:66972940:A:T	E297D	1.000
1:66972944:G:A	G299R	1.000
1:66972944:G:C	G299R	1.000
1:66972944:G:T	G299W	1.000
1:66972945:G:A	G299E	1.000
1:66972948:T:C	L300P	1.000
1:66972962:A:G	K305E	1.000
1:66972964:G:C	K305N	1.000
1:66972964:G:T	K305N	1.000
1:66972968:T:C	F307L	1.000
1:66972969:T:C	F307S	1.000
1:66972969:T:G	F307C	1.000
1:66972970:T:A	F307L	1.000
1:66972970:T:G	F307L	1.000
1:66976596:T:A	V315D	1.000

dbSNP variants (sampled 300 via entrez): RS1000075971 (1:66978183 G>A), RS1000109274 (1:66930846 G>A), RS1000135598 (1:66986348 C>A,T), RS1000168630 (1:66953947 T>C), RS1000274356 (1:66962823 A>C), RS1000276164 (1:66950737 T>G), RS1000336801 (1:66984718 A>G), RS1000402477 (1:66968891 C>T), RS1000413890 (1:66969232 A>AG), RS1000449156 (1:66927257 G>A), RS1000459079 (1:66948010 T>C), RS1000507601 (1:66981580 A>G), RS1000511370 (1:66952484 T>C), RS1000522078 (1:66939622 CTTTT>C,CTTT,CTTTTT), RS1000552552 (1:66935503 A>G)

Disease associations

OMIM: gene MIM:616848 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004131_16	Inflammatory bowel disease	5.000000e-111
GCST004132_7	Crohn’s disease	6.000000e-93
GCST004133_2	Ulcerative colitis	4.000000e-41
GCST004632_89	Lymphocyte percentage of white cells	3.000000e-13
GCST006409_19	Allergic rhinitis	5.000000e-06
GCST90000025_927	Appendicular lean mass	2.000000e-12
GCST90002393_3	Monocyte count	4.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004980	appendicular lean mass
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL6195541 (PROTEIN-PROTEIN INTERACTION), CHEMBL6195590 (PROTEIN-PROTEIN INTERACTION)

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
bisphenol A	increases methylation, affects cotreatment, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
titanium dioxide	increases methylation	1
sodium arsenite	increases abundance, decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Arsenic	decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	increases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Folic Acid	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Polychlorinated Biphenyls	affects expression	1
Rotenone	decreases expression	1
Testosterone	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6108834	Binding	PROTAC activity at CRBN/MIER1 in human MM1.S cells assessed as induction of MIER1 degradation at 1 uM incubated for 6 hrs by quantitative diaPASEF-based mass spectrometric analysis	Development of Ethyl-Hydrazide-Based Selective Histone Deacetylase 6 (HDAC6) PROTACs. — ACS Med Chem Lett

Clinical trials (associated diseases)

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