EBF2

Summary

EBF2 (EBF transcription factor 2, HGNC:19090) is a protein-coding gene on chromosome 8p21.2, encoding Transcription factor COE2 (Q9HAK2). Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation.

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts.

Source: NCBI Gene 64641 — RefSeq curated summary.

At a glance

• Gene–disease (curated): endocrine system disorder (Limited, GenCC)
• GWAS associations: 22
• Clinical variants (ClinVar): 73 total
• MANE Select transcript: NM_022659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19090
Approved symbol	EBF2
Name	EBF transcription factor 2
Location	8p21.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11500, COE2
Ensembl gene	ENSG00000221818
Ensembl biotype	protein_coding
OMIM	609934
Entrez	64641

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000408929, ENST00000517825, ENST00000520164, ENST00000535548, ENST00000901147, ENST00000965179

RefSeq mRNA: 1 — MANE Select: NM_022659 NM_022659

CCDS: CCDS43726

Canonical transcript exons

ENST00000520164 — 16 exons

Exon	Start	End
ENSE00001565681	25889752	25889869
ENSE00001566467	25861049	25861226
ENSE00001568494	26033085	26033153
ENSE00001569163	25861309	25861374
ENSE00001573790	25862709	25862797
ENSE00001574253	25858319	25858504
ENSE00001621757	25886755	25886881
ENSE00001650710	25887842	25887972
ENSE00001790499	25908474	25908555
ENSE00002102088	25841725	25844640
ENSE00002124247	26044729	26045413
ENSE00003482162	26042095	26042251
ENSE00003500531	25850594	25850761
ENSE00003528309	26040616	26040671
ENSE00003575056	26040939	26041002
ENSE00003589905	26040028	26040101

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 90.29.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6614 / max 99.4189, expressed in 511 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92410	2.5495	501
92409	0.1118	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal root ganglion	UBERON:0000044	90.29	gold quality
secondary oocyte	CL:0000655	90.01	gold quality
oocyte	CL:0000023	89.38	gold quality
tibial nerve	UBERON:0001323	88.30	gold quality
synovial joint	UBERON:0002217	88.22	gold quality
trigeminal ganglion	UBERON:0001675	87.93	gold quality
sural nerve	UBERON:0015488	86.14	gold quality
omental fat pad	UBERON:0010414	84.58	gold quality
peritoneum	UBERON:0002358	84.50	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.44	gold quality
pericardium	UBERON:0002407	84.30	gold quality
subcutaneous adipose tissue	UBERON:0002190	83.58	gold quality
adipose tissue	UBERON:0001013	83.43	gold quality
connective tissue	UBERON:0002384	82.49	gold quality
parietal pleura	UBERON:0002400	82.32	gold quality
calcaneal tendon	UBERON:0003701	82.12	gold quality
heart right ventricle	UBERON:0002080	80.09	gold quality
apex of heart	UBERON:0002098	79.22	gold quality
cardiac ventricle	UBERON:0002082	78.64	gold quality
right atrium auricular region	UBERON:0006631	78.56	gold quality
heart left ventricle	UBERON:0002084	78.52	gold quality
cardiac atrium	UBERON:0002081	78.39	gold quality
heart	UBERON:0000948	78.14	gold quality
hindlimb stylopod muscle	UBERON:0004252	77.84	gold quality
myocardium	UBERON:0002349	77.74	gold quality
layer of synovial tissue	UBERON:0007616	77.70	gold quality
left uterine tube	UBERON:0001303	76.91	gold quality
cauda epididymis	UBERON:0004360	76.21	gold quality
pleura	UBERON:0000977	76.01	gold quality
right lobe of thyroid gland	UBERON:0001119	75.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-11268	yes	1348.79
E-HCAD-10	yes	29.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
EBF1
EBF2
TNFRSF11B	Activation

Upstream regulators (CollecTRI, top): EBF1, EBF2

miRNA regulators (miRDB)

169 targeting EBF2, 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-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-495-3P	99.96	72.81	4197
HSA-LET-7C-3P	99.95	73.42	2862

Literature-anchored findings (GeneRIF, showing 8)

• EBF2 as a mediator of osteoprotegerin inhibition to tumor necrosis factor-related apoptosis-inducing ligand-induced apoptosis. (PMID:19671856)
• Blnc1 forms a ribonucleoprotein complex with transcription factor EBF2 to stimulate the thermogenic gene program. Further, Blnc1 itself is a target of EBF2, thereby forming a feedforward regulatory loop to drive adipogenesis toward thermogenic phenotype. (PMID:25002143)
• Novel inguinal hernia susceptibility genes are identified as EFEMP1, WT1, EBF2 and ADAMTS6. (PMID:26686553)
• Missense mutation in EBF2 gene is associated with imperforate anus. (PMID:29704291)
• EBF2 gene variants can contribute to KD [ Kawasaki disease]in the Korean population. (PMID:29749135)
• data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. These results provided new therapeutic targets for metastatic osteosarcoma and insights into molecular regulation of EBF2. (PMID:30529043)
• research indicated that downexpression of miR-182-3p in Osteosarcoma (OS) cells results in overexpression of EBF2 and promotes the progression of OS. (PMID:30993113)
• EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN. (PMID:38015024)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ebf2	ENSDARG00000042525
mus_musculus	Ebf2	ENSMUSG00000022053
rattus_norvegicus	Ebf2	ENSRNOG00000011548
drosophila_melanogaster	kn	FBGN0001319
caenorhabditis_elegans		WBGENE00006743

Paralogs (3): EBF4 (ENSG00000088881), EBF3 (ENSG00000108001), EBF1 (ENSG00000164330)

Protein

Protein identifiers

Transcription factor COE2 — Q9HAK2 (reviewed: Q9HAK2)

Alternative names: Early B-cell factor 2

All UniProt accessions (2): B7Z934, Q9HAK2

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5’-ATTCCCNNGGGAATT-3'.

Subunit / interactions. Forms either a homodimer or a heterodimer with a related family member. Interacts with SIX1.

Subcellular location. Nucleus.

Similarity. Belongs to the COE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HAK2-1	1	yes
Q9HAK2-2	2

RefSeq proteins (1): NP_073150* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002909	IPT_dom	Domain
IPR003523	Transcription_factor_COE	Family
IPR013783	Ig-like_fold	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR018350	Transcription_factor_COE_CS	Conserved_site
IPR032200	COE_DBD	Domain
IPR032201	COE_HLH	Domain
IPR038006	COE_IPT	Domain
IPR038173	COE_DBD_sf	Homologous_superfamily

Pfam: PF01833, PF16422, PF16423

UniProt features (16 total): region of interest 4, site 2, splice variant 2, sequence conflict 2, compositionally biased region 2, chain 1, domain 1, sequence variant 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAK2-F1	73.38	0.47

Functional residue map

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

Catalytic / active sites (2): 171 (interaction with dna); 162 (interaction with dna)

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9844594	Transcriptional regulation of brown and beige adipocyte differentiation by EBF2

MSigDB gene sets: 193 (showing top): FXR_IR1_Q6, HNF3ALPHA_Q6, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, LHX3_01, GGAMTNNNNNTCCY_UNKNOWN, EFC_Q6, TCF4_Q5, CDP_01, chr8p21, NF1_Q6_01, TCF11_01, HFH4_01

GO Biological Process (8): cell fate determination (GO:0001709), regulation of transcription by RNA polymerase II (GO:0006357), brown fat cell differentiation (GO:0050873), adipose tissue development (GO:0060612), positive regulation of cold-induced thermogenesis (GO:0120162), regulation of DNA-templated transcription (GO:0006355), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transcriptional regulation of brown and beige adipocyte differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
binding	2
cell fate commitment	1
cellular developmental process	1
fat cell differentiation	1
animal organ development	1
connective tissue development	1
positive regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EBF2	ZNF423	Q2M1K9	840
EBF2	TMTC1	Q8IUR5	839
EBF2	PPARG	P37231	789
EBF2	PRDM16	Q9HAZ2	779
EBF2	ID1	P41134	694
EBF2	EHMT1	Q9H9B1	633
EBF2	UCP1	P25874	632
EBF2	HNRNPU	Q00839	598
EBF2	SIX1	Q15475	585
EBF2	TNFRSF11B	O00300	579
EBF2	CIDEA	O60543	558
EBF2	MYF5	P13349	530
EBF2	PPARGC1A	Q9UBK2	509
EBF2	TMEM26	Q6ZUK4	508
EBF2	SMARCA4	P51532	501

IntAct

13 interactions, top by confidence:

A	B	Type	Score
TRAF2	EBF2	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	EBF2	psi-mi:“MI:0915”(physical association)	0.560
EBF3	EBF2	psi-mi:“MI:0915”(physical association)	0.560
EBF2	NES	psi-mi:“MI:0915”(physical association)	0.400
RNPS1	C1orf226	psi-mi:“MI:0914”(association)	0.350
EBF2	LILRA5	psi-mi:“MI:0914”(association)	0.350
EBF2	TRAF2	psi-mi:“MI:0915”(physical association)	0.000
EBF2	TRAF1	psi-mi:“MI:0915”(physical association)	0.000
EBF3	EBF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (60): EBF2 (Two-hybrid), EBF2 (Two-hybrid), EBF2 (Two-hybrid), EBF2 (Proximity Label-MS), EBF2 (Co-purification), SERPINB1 (Affinity Capture-MS), ALDH3A1 (Affinity Capture-MS), CPA4 (Affinity Capture-MS), LTF (Affinity Capture-MS), ARG1 (Affinity Capture-MS), IGLC2 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), TCN1 (Affinity Capture-MS), BPIFA1 (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IWI1, A5ABV9, B7ZRI2, B7ZRJ4, O08791, O08792, O13987, O73673, O73742, O74412, O74954, O93375, P06536, P06537, P49843, P49844, P56721, Q00858, Q03414, Q03571, Q07802, Q08DL5, Q10902, Q13761, Q13950, Q20937, Q23238, Q5H9I0, Q61X54, Q63398, Q64131, Q6E3C9, Q6E3D0, Q6E3D4, Q6E3D5, Q6P4K7, Q6PF39, Q700C2, Q8BYR2, Q8K4J2

Diamond homologs: A0A0R4IWI1, B7ZRI2, B7ZRJ4, O08791, O08792, O73742, O93375, P56721, Q07802, Q08DL5, Q63398, Q6P4K7, Q8K4J2, Q93705, Q9BQW3, Q9H4W6, Q9HAK2, Q9UH73, O13987

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3421 predictions. Top by Δscore:

Variant	Effect	Δscore
8:25858317:A:AC	donor_gain	1.0000
8:25858317:ACTT:A	donor_gain	1.0000
8:25858318:C:CC	donor_gain	1.0000
8:25858318:CTT:C	donor_gain	1.0000
8:25858318:CTTC:C	donor_gain	1.0000
8:25858320:T:TA	donor_gain	1.0000
8:25858504:CCT:C	acceptor_gain	1.0000
8:25858505:C:T	acceptor_gain	1.0000
8:25858506:T:C	acceptor_gain	1.0000
8:25861044:GGTAC:G	donor_loss	1.0000
8:25861045:GTA:G	donor_loss	1.0000
8:25861047:A:C	donor_loss	1.0000
8:25861048:C:CA	donor_loss	1.0000
8:25861056:ATTT:A	donor_gain	1.0000
8:25861059:T:TA	donor_gain	1.0000
8:25861222:ATGTC:A	acceptor_gain	1.0000
8:25861223:TGTC:T	acceptor_gain	1.0000
8:25861224:GTC:G	acceptor_gain	1.0000
8:25861225:TC:T	acceptor_gain	1.0000
8:25861226:CC:C	acceptor_gain	1.0000
8:25861227:C:CA	acceptor_loss	1.0000
8:25861227:C:CC	acceptor_gain	1.0000
8:25861303:TCTCA:T	donor_loss	1.0000
8:25861304:CTCAC:C	donor_loss	1.0000
8:25861305:TCAC:T	donor_loss	1.0000
8:25861306:CA:C	donor_loss	1.0000
8:25861307:A:AT	donor_loss	1.0000
8:25861370:ATCTC:A	acceptor_gain	1.0000
8:25861372:CTC:C	acceptor_gain	1.0000
8:25861373:TC:T	acceptor_gain	1.0000

AlphaMissense

3772 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:25850664:A:C	F542L	1.000
8:25850664:A:T	F542L	1.000
8:25850665:A:C	F542C	1.000
8:25850666:A:G	F542L	1.000
8:25861207:G:T	A395D	1.000
8:25861346:A:G	L376P	1.000
8:25861352:G:T	A374E	1.000
8:25861353:C:G	A374P	1.000
8:25861355:G:T	A373D	1.000
8:25861356:C:G	A373P	1.000
8:25861357:T:A	R372S	1.000
8:25861357:T:G	R372S	1.000
8:25861364:A:C	L370W	1.000
8:25861364:A:G	L370S	1.000
8:25862758:A:C	L350R	1.000
8:25862758:A:G	L350P	1.000
8:25862758:A:T	L350Q	1.000
8:25862760:T:A	R349S	1.000
8:25862760:T:G	R349S	1.000
8:25862761:C:G	R349T	1.000
8:25862766:G:C	F347L	1.000
8:25862766:G:T	F347L	1.000
8:25862767:A:C	F347C	1.000
8:25862767:A:G	F347S	1.000
8:25862768:A:G	F347L	1.000
8:25862770:C:T	G346D	1.000
8:25862771:C:G	G346R	1.000
8:25862779:A:T	I343K	1.000
8:25886761:A:C	Y335D	1.000
8:25886761:A:G	Y335H	1.000

dbSNP variants (sampled 300 via entrez): RS1000021942 (8:25921312 A>G), RS1000045 (8:26030069 A>C,T), RS1000048155 (8:25964304 G>A), RS1000061118 (8:26016795 A>C), RS1000063230 (8:25844444 T>A,C), RS1000080796 (8:26042561 A>G), RS1000095462 (8:25844096 A>C,G), RS1000117819 (8:25971212 G>GA), RS1000118419 (8:25939748 G>A), RS1000132871 (8:25887618 C>G,T), RS1000134705 (8:26042799 G>C), RS1000167684 (8:26010925 G>T), RS1000169860 (8:26040622 G>A,C,T), RS1000190712 (8:25858596 C>T), RS1000212556 (8:25919058 C>G)

Disease associations

OMIM: gene MIM:609934 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
endocrine system disorder	Limited	Autosomal dominant

Mondo (1): endocrine system disorder (MONDO:0005151)

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001942_13	Prostate cancer	8.000000e-11
GCST003198_3	Inguinal hernia	7.000000e-15
GCST003784_10	Multiple system atrophy	5.000000e-06
GCST004776_42	Systolic blood pressure	3.000000e-14
GCST004776_92	Systolic blood pressure	9.000000e-07
GCST004858_8	Dupuytren’s disease	2.000000e-15
GCST006041_43	Major depressive disorder	3.000000e-06
GCST006190_46	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-07
GCST006193_29	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-09
GCST006193_69	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-06
GCST006195_59	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-06
GCST007099_139	Systolic blood pressure	5.000000e-08
GCST007930_153	Medication use (agents acting on the renin-angiotensin system)	7.000000e-10
GCST010989_136	Body size at age 10	6.000000e-09
GCST90020025_1006	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90020025_1007	Waist-to-hip ratio adjusted for BMI	9.000000e-10
GCST90020025_1008	Waist-to-hip ratio adjusted for BMI	7.000000e-09
GCST90020025_1009	Waist-to-hip ratio adjusted for BMI	5.000000e-08
GCST90020026_612	Hip index	3.000000e-08
GCST90020026_613	Hip index	5.000000e-09
GCST90020027_1365	Waist-hip index	2.000000e-09
GCST90020027_1366	Waist-hip index	8.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004229	Dupuytren Contracture
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004700	Endocrine System Diseases	C19

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
bisphenol A	decreases methylation	1
4-nonylphenol	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-tert-octylphenol	affects cotreatment, increases expression	1
tanespimycin	increases expression	1
entinostat	decreases expression	1
bisphenol S	decreases methylation	1
incobotulinumtoxinA	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	decreases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Dicamba	affects methylation, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Herbicides	affects methylation, increases abundance	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01831869	PHASE4	UNKNOWN	Effect of L-Thyroxine on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism
NCT01848171	PHASE4	UNKNOWN	Effects of L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Hypothyroidism
NCT04653779	PHASE4	UNKNOWN	A Clinical Trial to Evaluate the Preference Regarding Convenience of Medication and Efficacy/Safety of SUGAMET®XR Tablet 5/1000mg
NCT04700436	PHASE4	COMPLETED	Efficacy and Safety of EzetimiBe/Rosuvastatin in Diabetic Dislipidemia With Hypertriglyceridaemia
NCT05084079	PHASE4	UNKNOWN	Different Initial Insulin Dose Regimens on Time to Achieve Glycemic Targets and Treatment Safety in SIIT
NCT00163215	PHASE3	COMPLETED	Growth Retardation In Children With Special Pathological Conditions Or Disease
NCT00174187	PHASE3	TERMINATED	Treatment With Recombinant Human Growth Hormone (GH) in Children With Short Stature Secondary to a Long Term Corticoid Therapy
NCT00174291	PHASE3	TERMINATED	Prevention of Growth Retardation by Early Treatment With Growth Hormone (GH) in Children With CJA Treated by Corticosteroid Therapy
NCT00935766	PHASE3	TERMINATED	Effect of Fish Oil (Omega-3 Fatty Acids) on Arteries
NCT01964430	PHASE3	COMPLETED	Nab-paclitaxel and Gemcitabine vs Gemcitabine Alone as Adjuvant Therapy for Patients With Resected Pancreatic Cancer (the Apact Study)
NCT02781727	PHASE3	COMPLETED	A Phase 3 Trial of the Safety, Tolerability and Efficacy of TransCon hGH Weekly Versus Daily hGH in Children With Growth Hormone Deficiency (GHD)
NCT03305016	PHASE3	COMPLETED	A Safety, Tolerability and Efficacy Study of TransCon hGH in Children With Growth Hormone Deficiency
NCT03344458	PHASE3	COMPLETED	A Long-Term Trial Investigating Safety and Efficacy of TransCon hGH in Children With Growth Hormone Deficiency Who Have Completed a Prior TransCon hGH Clinical Trial
NCT04326374	PHASE3	UNKNOWN	Safety, Tolerability and Efficacy of TransCon hGH Weekly Versus Daily hGH in Chinese Pediatric Growth Hormone Deficiency
NCT04371978	PHASE3	TERMINATED	Efficacy and Safety of Dipeptidyl Peptidase-4 Inhibitors in Diabetic Patients With Established COVID-19
NCT04615273	PHASE3	COMPLETED	A Trial to Compare the Efficacy and Safety of Once-weekly Lonapegsomatropin With Placebo and a Daily Somatropin Product in Adults With Growth Hormone Deficiency
NCT04701203	PHASE3	COMPLETED	A Trial Investigating the Safety, Tolerability and Efficacy of TransCon PTH Administered Daily in Adults With Hypoparathyroidism
NCT04809220	PHASE3	COMPLETED	A Study of Two Doses of Dulaglutide (LY2189265) in Japanese Patients With Type 2 Diabetes
NCT05171855	PHASE3	COMPLETED	A Trial to Investigate Long Term Efficacy and Safety of Lonapegsomatropin in Adults With Growth Hormone Deficiency
NCT05260021	PHASE3	COMPLETED	A Study to Evaluate Tirzepatide (LY3298176) in Pediatric and Adolescent Participants With Type 2 Diabetes Mellitus Inadequately Controlled With Metformin or Basal Insulin or Both
NCT05387070	PHASE3	COMPLETED	PaTHway CHINA TRIAL: A Trial to Investigating the Safety, Tolerability and Efficacy of TransCon PTH in Adults With Hypoparathyroidism
NCT05505994	PHASE3	UNKNOWN	The Efficacy and Safety of DWP16001 in Combination With Metformin in T2DM Patients Inadequately Controlled on Metformin
NCT05691712	PHASE3	COMPLETED	A Study of Tirzepatide (LY3298176) in Chinese Participants With Type 2 Diabetes
NCT05778071	PHASE3	ACTIVE_NOT_RECRUITING	Evaluation of the Safety and Efficacy of Eneboparatide (AZP-3601) in Patients With Chronic Hypoparathyroidism
NCT07081997	PHASE3	RECRUITING	A Phase 3 Randomized Clinical Trial to Investigate the Safety and Efficacy of Palopegteriparatide at Doses Greater Than 30 μg/Day in Adult Participants With Hypoparathyroidism
NCT07613307	PHASE3	NOT_YET_RECRUITING	A Study of Orforglipron (LY3502970) in Participants With Type 2 Diabetes Who Observe Ramadan Fasting
NCT00001849	PHASE2	COMPLETED	New Imaging Techniques in the Evaluation of Patients With Ectopic Cushing Syndrome
NCT00672386	PHASE2	COMPLETED	A Study of the Safety and Effectiveness of a R256918 in Patients With Type 2 Diabetes
NCT01735617	PHASE2	COMPLETED	Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH
NCT01778348	PHASE2	COMPLETED	Closing the Loop in Children and Adolescents With Type 1 Diabetes in the Home Setting
NCT02102737	PHASE2	COMPLETED	Comparison of A New Technique of Measure of the Insulin Resistance By Scintigraphy With the Reference Technique
NCT02203682	PHASE2	UNKNOWN	Doxycycline Treatment in Mild Thyroid-Associated Ophthalmopathy
NCT02248701	PHASE2	TERMINATED	Testosterone Plus Finasteride Treatment After Spinal Cord Injury
NCT03345004	PHASE2	COMPLETED	Diamyd Administered Into Lymph Nodes in Combination With Vitamin D in Type 1 Diabetes
NCT03486223	PHASE2	COMPLETED	Soluble Epoxide Hydrolase Inhibition and Insulin Resistance
NCT03562897	PHASE2	COMPLETED	Evaluation of Ocoxin-Viusid® in Advanced or Metastatic Ovarian Epithelial Cancer
NCT03627611	PHASE2	COMPLETED	Identification of Non-responders to Levothyroxine Therapy
NCT03682640	PHASE2	UNKNOWN	Azithromycin Insulin Diet Intervention Trial in Type 1 Diabetes
NCT03717298	PHASE2	COMPLETED	Evaluation of Ocoxin-Viusid® in Advanced Pancreatic Adenocarcinoma
NCT04009291	PHASE2	COMPLETED	A Trial Investigating the Safety, Tolerability and Efficacy of TransCon PTH in Adults With Hypoparathyroidism