DNMT3B

Summary

DNMT3B (DNA methyltransferase 3 beta, HGNC:2979) is a protein-coding gene on chromosome 20q11.21, encoding DNA (cytosine-5)-methyltransferase 3B (Q9UBC3). Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development.

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.

Source: NCBI Gene 1789 — RefSeq curated summary.

At a glance

• Gene–disease (curated): immunodeficiency-centromeric instability-facial anomalies syndrome 1 (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 17
• Clinical variants (ClinVar): 922 total — 25 pathogenic, 14 likely-pathogenic
• Phenotypes (HPO): 77
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Transcription factor: yes — 75 downstream targets (CollecTRI)
• MANE Select transcript: NM_006892

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2979
Approved symbol	DNMT3B
Name	DNA methyltransferase 3 beta
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000088305
Ensembl biotype	protein_coding
OMIM	602900
Entrez	1789

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 9 protein_coding, 6 retained_intron, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000201963, ENST00000328111, ENST00000348286, ENST00000353855, ENST00000443239, ENST00000456297, ENST00000696231, ENST00000696232, ENST00000696233, ENST00000696234, ENST00000696235, ENST00000696236, ENST00000696237, ENST00000696238, ENST00000696239, ENST00000696240, ENST00000696241, ENST00000696242, ENST00000696243, ENST00000696244, ENST00000696245, ENST00000919031

RefSeq mRNA: 16 — MANE Select: NM_006892 NM_001207055, NM_001207056, NM_001424351, NM_001424352, NM_001424353, NM_001424354, NM_001424355, NM_001424356, NM_001424357, NM_001424358, NM_001424359, NM_001424360, NM_006892, NM_175848, NM_175849, NM_175850

CCDS: CCDS13204, CCDS13205, CCDS13206, CCDS13207, CCDS56183, CCDS56184

Canonical transcript exons

ENST00000328111 — 23 exons

Exon	Start	End
ENSE00000661225	32793536	32793595
ENSE00000661227	32796790	32796869
ENSE00000661232	32800835	32800925
ENSE00000661234	32802385	32802470
ENSE00000661235	32805338	32805407
ENSE00000859951	32806209	32806327
ENSE00001723644	32801278	32801426
ENSE00001956554	32807762	32809356
ENSE00003504784	32795409	32795534
ENSE00003526470	32798460	32798643
ENSE00003593604	32797187	32797299
ENSE00003613553	32800153	32800298
ENSE00003633100	32799244	32799328
ENSE00003664634	32795650	32795694
ENSE00003966585	32788854	32789012
ENSE00003966597	32780318	32780465
ENSE00003966609	32781353	32781414
ENSE00003966610	32762385	32762699
ENSE00003966614	32791601	32791708
ENSE00003966615	32786502	32786627
ENSE00003966622	32787230	32787451
ENSE00003966625	32792626	32792770
ENSE00003966628	32784758	32784859

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 98.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0601 / max 1509.4726, expressed in 958 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184052	33.6930	952
184055	0.3304	90
184062	0.0367	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.34	gold quality
oocyte	CL:0000023	97.39	gold quality
hair follicle	UBERON:0002073	84.15	silver quality
sperm	CL:0000019	82.11	silver quality
embryo	UBERON:0000922	81.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.38	gold quality
male germ cell	CL:0000015	81.16	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.16	gold quality
cervix squamous epithelium	UBERON:0006922	77.60	gold quality
gingival epithelium	UBERON:0001949	77.18	silver quality
ganglionic eminence	UBERON:0004023	76.37	gold quality
upper arm skin	UBERON:0004263	74.66	gold quality
body of pancreas	UBERON:0001150	74.31	gold quality
epithelial cell of pancreas	CL:0000083	73.94	gold quality
tongue squamous epithelium	UBERON:0006919	73.65	gold quality
ventricular zone	UBERON:0003053	73.29	gold quality
gingiva	UBERON:0001828	72.26	silver quality
corpus epididymis	UBERON:0004359	72.07	gold quality
germinal epithelium of ovary	UBERON:0001304	72.02	gold quality
trabecular bone tissue	UBERON:0002483	71.79	silver quality
stromal cell of endometrium	CL:0002255	71.67	gold quality
squamous epithelium	UBERON:0006914	71.41	gold quality
choroid plexus epithelium	UBERON:0003911	70.96	silver quality
cortical plate	UBERON:0005343	70.48	gold quality
bone marrow	UBERON:0002371	70.29	gold quality
olfactory bulb	UBERON:0002264	69.39	gold quality
type B pancreatic cell	CL:0000169	69.32	gold quality
right testis	UBERON:0004534	69.21	gold quality
decidua	UBERON:0002450	69.19	gold quality
caput epididymis	UBERON:0004358	69.18	silver quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	1338.09
E-MTAB-9388	yes	13.36
E-ANND-3	yes	5.48
E-MTAB-6819	no	209.42
E-MTAB-6524	no	206.52

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

75 targets.

Target	Regulation
AKT1
APC	Unknown
ASCL1
BAG1	Activation
BAG3	Activation
BAG4	Activation
BRCA1
CCNB2
CD74
CDH1	Repression
CDH13	Repression
CDH17
CDKN2A
CDKN2B
CUL4A
CXCL12
CXCR4	Unknown
DLC1
DNMT1
DNMT3A
DNMT3B
DNMT3L
DPP6	Unknown
E2F6	Repression
EHMT2
EREG
ERVW-4
ESR1
FGFR1
FGFR3	Repression

Upstream regulators (CollecTRI, top): DNMT1, DNMT3A, DNMT3B, DNMT3L, ESR2, HOXB13, HOXB3, RBL2, SP1, SP2, SP3

miRNA regulators (miRDB)

114 targeting DNMT3B, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 40)

• DNMT1 and DNMT3b cooperate to silence genes in human cancer cells (PMID:11932749)
• An essential role in cancer cell survival (PMID:12015329)
• Overexpression of a splice variant is associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis (PMID:12110732)
• the human de novo enzymes hDNMT3a and hDNMT3b form complexes with the major maintenance enzyme hDNMT1. (PMID:12145218)
• The DNMT3B C46359T polymorphism is associated with promoter activity of a novel DNMT3B transcript, and associated with the risk of lung cancer in non-Hispanic whites. (PMID:12208751)
• cloned and characterized the 5’-end of the mRNA and promoter regions (PMID:12359337)
• a registry of all known ICF-causing mutations, DNMT3Bbase, was constructed. The structural principles of the pathogenic mutations based on the modelled structure and the analysis of chi angle rotation changes of mutated side chains are discussed. (PMID:12601140)
• Over-expressed in squamous cell carcinoma of the mouth. (PMID:12738984)
• DNMT3b plays an important role in neoplastic transformation (PMID:12879017)
• DNMT3B is required for the methylation of L1 CpG islands on the inactive X chromosome. (PMID:12925568)
• Overexpression of DNMT3B is associated with breast tumor (PMID:14555514)
• DNMT1 plays a key role in methylation maintenance, DNMT3b may act as an accessory to support the function in ovarian cancer cells. (PMID:14559786)
• DNMT3B co-purifies and interacts, both in vivo and in vitro, with several components of the condensin complex (hCAP-C, hCAP-E and hCAP-G) and KIF4A (PMID:15148359)
• The DNMT3B C46359T polymorphism is statistically significantly associated with survival outcome in HNSCC patients. (PMID:15375549)
• Down regulation of DNMT3b is associated with B-cell chronic lymphocytic leukemia (PMID:15467427)
• Overexpression of DNMT3b4 is involved in human hepatocarcinogenesis, even at the precancerous stages, not only by inducing chromosomal instability but also by affecting the expression of specific genes (PMID:15490234)
• The DNMT3B -283T > C polymorphism influences DNMT3B expression, thus contributing to the genetic susceptibility to lung cancer. (PMID:15528220)
• two types of ICF patients that harbor different genetic characteristics; ICF type 1 is characterized by DNMT3B mutations and normal methylation of the alpha satellites; Type 2 lacks DNMT3B mutations and shows hypomethylation of the alpha satellites. (PMID:15580563)
• DNMT3B was shown to have a very pronounced flanking sequence preference for human DNA methylation. (PMID:15854647)
• The distribution of DNMT3B SNP in North China is distinct from that in Caucasians, but it cannot be used as a stratification marker to predict susceptibility and lymphatic metastasis of gasstric cardia adenocarcinoma. (PMID:15962389)
• involvement of HPV infection in nonsmoking female lung tumorigenesis may be mediated, at least to a certain extent, through the increase of DNMT3b protein expression to cause p16INK4a promoter hypermethylation (PMID:16004934)
• Data suggest that the DNMT3B TT genotype may be associated with an increased risk of prostate cancer. (PMID:16012746)
• we observed that the increase (10%) of genomic DNA methylation in patients with alcoholism was significantly associated with their lowered DNMT-3b mRNA expression (PMID:16463117)
• Transfection with the antisense DNMT3b gene eukaryotic expression plasmid can significantly reduce the expression level of the DNMT3b gene in the human biliary tract carcinoma cell line QBC-939. (PMID:16481298)
• Dnmt3b plays an essential role at different stages of mouse development, and that Immunodeficiency, Centromeric instability and Facial anomalies missense mutations cause partial loss of function (PMID:16501171)
• Dnmt3b-Dnmt3L interactions play an important role in the regulation of DNA methylation during mammalian development. (PMID:16543361)
• DeltaDNMT3B is the predominant form of DNMT3B in non-small cell lung cancer. (PMID:16773201)
• The relative distribution of three DNMT3B SNPs among a Taiwanese population can not be used as a stratification marker to predict either an individual’s susceptibility to HNSCC and/or the likelihood of cervical metastasis of HNSCC. (PMID:16920385)
• Expression of DNMT3B variants is common in nsn-small cell lung carcinoma and may play an important role in the development of promoter methylation. (PMID:16951144)
• RAS oncogene induces RECK gene silencing through DNMT3b-mediated promoter methylation which may be useful in treatment of cancer metastasis (PMID:16951151)
• Expression of DNMT3B was inversely correlated with that of p14ARF and p16INK4a. Results suggest that DNMT3B over-expression may be involved in the suppression or lower expression of p14ARF and p16INK4a observed in esophageal squamous cell carcinoma. (PMID:17017004)
• Correlation between the expression of DNMT3b and the methylation of tumor suppressor genes, tumor grade and stage was not found. (PMID:17067458)
• The genes DNMT1, DNMT3A, and DNMT3B were over-expressed in the ectopic endometrium as compared with normal control subjects or the eutopic endometrium of women with endometriosis (PMID:17081533)
• The p16 gene promoter was hypermethylated in pterygia, and this hypermethylation was strongly linked to expression of the positive expression of DNMT3b protein and to the suppression of p16 protein. (PMID:17149367)
• results showed for the first the direct linkage between DNMT and zinc-fingers homeoboxes protein, leading to enhanced gene silencing by DNMT3B (PMID:17303076)
• The DNMT3b 39179GT polymorphism may be a genetic determinant of adenocarcinoma of the colon, especially in younger Korean men. (PMID:17318376)
• Results suggest that truncated DNMT3B proteins could play a role in the abnormal distribution of DNA methylation found in cancer cells. (PMID:17353906)
• tobacco exposure induces the abnormal expression of SNCG in lung cancer cells through downregulation of DNMT3B (PMID:17369845)
• DNMT1 plays a key role in maintenance of methylation, and DNMT3B may act as an accessory DNA methyltransferase to epigenetically silence CXCL12 expression in MCF-7 and AsPC1 cells (PMID:17532557)
• Progressive up-regulation of the gene encoding DNMT3B was found in the colorectal adenoma-carcinoma sequence. (PMID:17538945)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnmt3bb.1	ENSDARG00000036791
mus_musculus	Dnmt3b	ENSMUSG00000027478
mus_musculus	Dnmt3c	ENSMUSG00000082079
rattus_norvegicus	Dnmt3b	ENSRNOG00000010625
rattus_norvegicus	Dnmt3c	ENSRNOG00000064796

Paralogs (4): DNMT3A (ENSG00000119772), DNMT3L (ENSG00000142182), PWWP2A (ENSG00000170234), PWWP2B (ENSG00000171813)

Protein

Protein identifiers

DNA (cytosine-5)-methyltransferase 3B — Q9UBC3 (reviewed: Q9UBC3)

Alternative names: DNA methyltransferase HsaIIIB

All UniProt accessions (7): Q9UBC3, A0A2Z2CIT2, A0A8Q3SIG2, A0A8Q3SIJ5, A0A8Q3SIL8, B4DSJ7, Q2PJS8

UniProt curated annotations — full annotation on UniProt →

Function. Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing. In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells.

Subunit / interactions. Interacts with BAZ2A/TIP5, SUV39H1 and CBX4. Interacts with UHRF1. Interacts with DNMT1 and DNMT3A, SETDB1, UBL1, UBE2I9 and ZHX1. Interacts with the PRC2/EED-EZH2 complex.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate.

Post-translational modifications. Sumoylated. Citrullinated by PADI4.

Disease relevance. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. The disease is caused by variants affecting the gene represented in this entry. Facioscapulohumeral muscular dystrophy 4, digenic (FSHD4) [MIM:619478] A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. DNMT3B mutations lead to DUX4 expression in somatic tissues, including muscle cells, when a haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.

Activity regulation. Activated by binding to the regulatory factor DNMT3L.

Domain organisation. The PWWP domain is essential for targeting to pericentric heterochromatin.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9UBC3-1	1	yes
Q9UBC3-2	2
Q9UBC3-3	3
Q9UBC3-4	4
Q9UBC3-5	5
Q9UBC3-6	6
Q9UBC3-7	7
Q9UBC3-8	8

RefSeq proteins (16): NP_001193984, NP_001193985, NP_001411280, NP_001411281, NP_001411282, NP_001411283, NP_001411284, NP_001411285, NP_001411286, NP_001411287, NP_001411288, NP_001411289, NP_008823, NP_787044, NP_787045, NP_787046 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000313	PWWP_dom	Domain
IPR001525	C5_MeTfrase	Family
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR018117	C5_DNA_meth_AS	Active_site
IPR025766	ADD	Domain
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR030488	DNMT3B_ADD	Domain
IPR040552	DNMT3_ADD_GATA1-like	Domain
IPR049554	DNMT3_ADD_PHD	Domain
IPR050390	C5-Methyltransferase	Family

Pfam: PF00145, PF00855, PF17980, PF21255

Enzyme classification (BRENDA):

• EC 2.1.1.37 — DNA (cytosine-5-)-methyltransferase (BRENDA: 52 organisms, 225 substrates, 140 inhibitors, 78 Km, 31 kcat entries)

Substrate kinetics (BRENDA)

31 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-ADENOSYL-L-METHIONINE	0.0001–0.021	28
DNA	0.0003–0.092	4
POLY(DG-DC)-POLY(DG-DC)	0.0009–0.0035	4
POLY(DI-DC)-POLY(DI-DC)	0.0003–0.0015	3
POLY-(DI-DC)/POLY(DI-DC)	0.0005–0.0008	3
DGDC	0.0005–0.0016	2
DIDC	0.0004–0.0012	2
MONONUCLEOSOMAL DNA CONTAINING CYTOSINE	0.52–1.4	2
POLY(DI-DC)*POLY(DI-DC)	0.0005–0.0007	2
UNMETHYLATED 30-MER DNA CONTAINING CYTOSINE	—	2
(CGG*CCG)12	0.0008	1
(CGG*CCG)73	0.0001	1
CPNPG	0.0001	1
CPNPN	—	1
HEMIMETHYLATED CPG	—	1

Catalyzed reactions (Rhea), 1 shown:

• a 2’-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2’-deoxycytidine in DNA + S-adenosyl-L-homocysteine + H(+) (RHEA:13681)

UniProt features (137 total): strand 29, helix 29, sequence variant 19, turn 16, modified residue 9, splice variant 9, compositionally biased region 6, binding site 4, region of interest 4, domain 3, sequence conflict 3, cross-link 2, zinc finger region 2, chain 1, active site 1

Structure

Experimental structures (PDB)

47 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5NRR	X-RAY DIFFRACTION	1.7
3FLG	X-RAY DIFFRACTION	1.8
5NV2	X-RAY DIFFRACTION	2.03
3QKJ	X-RAY DIFFRACTION	2.04
5NRV	X-RAY DIFFRACTION	2.08
7O45	X-RAY DIFFRACTION	2.1
5CIU	X-RAY DIFFRACTION	2.24
6R3E	X-RAY DIFFRACTION	2.27
5NR3	X-RAY DIFFRACTION	2.3
5NRS	X-RAY DIFFRACTION	2.3
5NV0	X-RAY DIFFRACTION	2.4
5NVO	X-RAY DIFFRACTION	2.4
5NV7	X-RAY DIFFRACTION	2.57
8ZLK	X-RAY DIFFRACTION	2.74
6KDB	X-RAY DIFFRACTION	2.86
6KDT	X-RAY DIFFRACTION	2.87
6KDA	X-RAY DIFFRACTION	2.91
6KDP	X-RAY DIFFRACTION	2.93
6PA7	ELECTRON MICROSCOPY	2.94
6U8W	X-RAY DIFFRACTION	2.95
6U8X	X-RAY DIFFRACTION	2.95
6U91	X-RAY DIFFRACTION	3
6U8V	X-RAY DIFFRACTION	3
6U90	X-RAY DIFFRACTION	3
8XEE	X-RAY DIFFRACTION	3.03
8EIH	ELECTRON MICROSCOPY	3.04
6U8P	X-RAY DIFFRACTION	3.05
7X9D	X-RAY DIFFRACTION	3.08
8EII	ELECTRON MICROSCOPY	3.12
9E2Q	ELECTRON MICROSCOPY	3.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBC3-F1	73.18	0.50

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 (1): 651

Ligand- & substrate-binding residues (4): 582–586; 605; 627–629; 832–834

Post-translational modifications (11): 82, 96, 100, 110, 136, 195, 202, 209, 410, 89, 617

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-212300	PRC2 methylates histones and DNA
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-4655427	SUMOylation of DNA methylation proteins
R-HSA-5334118	DNA methylation
R-HSA-9710421	Defective pyroptosis

MSigDB gene sets: 382 (showing top): NKX25_02, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, AREB6_03, GGGTGGRR_PAX4_03, MUELLER_PLURINET, CAGCAGG_MIR370, CATTTCA_MIR203, WTGAAAT_UNKNOWN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, FISCHER_DREAM_TARGETS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, CONRAD_STEM_CELL, chr20q11, ROSTY_CERVICAL_CANCER_PROLIFERATION_CLUSTER, GOBP_METHYLATION

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), positive regulation of gene expression (GO:0010628), methylation (GO:0032259), regulation of gene expression (GO:0010468), negative regulation of macromolecule biosynthetic process (GO:0010558)

GO Molecular Function (10): DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), DNA (cytosine-5-)-methyltransferase activity (GO:0003886), zinc ion binding (GO:0008270), DNA-methyltransferase activity (GO:0009008), DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), catalytic complex (GO:1902494)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Epigenetic regulation of gene expression	2
Negative epigenetic regulation of rRNA expression	1
SUMO E3 ligases SUMOylate target proteins	1
Diseases of programmed cell death	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of DNA-templated transcription	2
gene expression	2
regulation of macromolecule biosynthetic process	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
metabolic process	1
macromolecule biosynthetic process	1
negative regulation of biosynthetic process	1
negative regulation of macromolecule metabolic process	1
nucleic acid binding	1
transcription coregulator activity	1
S-adenosylmethionine-dependent methyltransferase activity	1
DNA-methyltransferase activity	1
transition metal ion binding	1
methyltransferase activity	1
catalytic activity, acting on DNA	1
DNA (cytosine-5-)-methyltransferase activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

4112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNMT3B	DNMT1	P26358	999
DNMT3B	EZH2	Q15910	997
DNMT3B	HDAC1	Q13547	992
DNMT3B	SUV39H1	O43463	986
DNMT3B	DNMT3L	Q9UJW3	984
DNMT3B	SETDB1	Q15047	980
DNMT3B	CENPC	Q03188	978
DNMT3B	UHRF1	Q96T88	959
DNMT3B	HDAC2	Q92769	947
DNMT3B	MBD4	O95243	946
DNMT3B	H3-3A	P06351	944
DNMT3B	H3C1	P02295	944
DNMT3B	H3-4	Q16695	941
DNMT3B	H3-7	Q5TEC6	941
DNMT3B	H3-5	Q6NXT2	941
DNMT3B	H3C14	Q71DI3	941

IntAct

86 interactions, top by confidence:

A	B	Type	Score
EZH2	DNMT3B	psi-mi:“MI:0915”(physical association)	0.830
EZH2	DNMT3B	psi-mi:“MI:0914”(association)	0.830
DNMT3B	EZH2	psi-mi:“MI:0915”(physical association)	0.830
EZH2	DNMT1	psi-mi:“MI:0914”(association)	0.690
DNMT3B	EED	psi-mi:“MI:0914”(association)	0.660
DNMT3B	EED	psi-mi:“MI:0403”(colocalization)	0.660
EED	DNMT3B	psi-mi:“MI:0915”(physical association)	0.660
DNMT3A	DNMT3B	psi-mi:“MI:0915”(physical association)	0.640
EED	DNMT1	psi-mi:“MI:0914”(association)	0.620
UHRF1	DNMT3B	psi-mi:“MI:0915”(physical association)	0.590
DNMT3B	UHRF1	psi-mi:“MI:0915”(physical association)	0.590
SUMO1	DNMT3B	psi-mi:“MI:0915”(physical association)	0.590
DNMT3B	SUMO1	psi-mi:“MI:0915”(physical association)	0.590
DNMT3B	SUMO1	psi-mi:“MI:0914”(association)	0.590
SUMO1	DNMT3B	psi-mi:“MI:0403”(colocalization)	0.590
UBE2I	DNMT3B	psi-mi:“MI:0915”(physical association)	0.570
LANA1	DNMT3B	psi-mi:“MI:0915”(physical association)	0.540
LANA1	DNMT3B	psi-mi:“MI:0407”(direct interaction)	0.540
NRIP1	DNMT1	psi-mi:“MI:0914”(association)	0.500

BioGRID (180): DNMT3B (Affinity Capture-MS), DNMT3B (Affinity Capture-MS), DNMT3B (Affinity Capture-MS), EZH2 (Affinity Capture-Western), DNMT3L (Reconstituted Complex), DNMT3B (Co-localization), DNMT3B (Co-localization), DNMT3B (Affinity Capture-MS), DNMT3B (Affinity Capture-MS), DNMT3B (Protein-peptide), DNMT3B (Reconstituted Complex), DNMT3B (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DNMT3B (Reconstituted Complex), DNMT3B (Reconstituted Complex)

ESM2 similar proteins: A6QL72, A7E300, B1WAV2, B9VTT2, E9Q5G3, F1MF74, O00763, O42611, O43815, O55106, O60447, O94776, O94851, P10687, P10894, P48380, P48381, P51400, P54283, P70483, P97366, Q02641, Q0V9K5, Q32NR3, Q4R3I8, Q5EAP5, Q5JSJ4, Q62769, Q63744, Q6DCD0, Q6GL57, Q6PCM2, Q7SYD9, Q811S7, Q8BPM2, Q8CC27, Q8R3Z5, Q8VGC3, Q90828, Q90ZY6

Diamond homologs: A0A1L8GR68, E9Q9M8, F7AQ22, O88508, Q1LZ53, Q4W5Z4, Q69Z61, Q6NUJ5, Q96N64, Q9FNE4, Q9UBC3, Q9Y6K1, O88509, Q923W4, Q9JMG7, Q9Y3E1, P00476, P09915, P0DOY1, P34906, Q10SU5, Q1LZ50, Q2RBJ4, Q9CWR8, Q9LXE5, Q9M548, Q9UJW3, O30868, O33481, O52702, P05102, P05302, P06530, P08455, P09389, P09795, P0DW08, P10283, P11408, P13906

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
DNMT3B	“up-regulates quantity by expression”	BAG1	“transcriptional regulation”
DNMT3B	“up-regulates quantity by expression”	BAG3	“transcriptional regulation”
DNMT3B	“up-regulates quantity by expression”	BAG4	“transcriptional regulation”
DNMT3B	“down-regulates quantity by repression”	IL32	“transcriptional regulation”
DNMT3B	“down-regulates quantity by repression”	HOXB13	“transcriptional regulation”
DNMT3B	“form complex”	DNMT1/DNMT3B	binding
miR-29b	“down-regulates quantity by repression”	DNMT3B	“post transcriptional regulation”
DNMT3B	“down-regulates quantity by repression”	DPP6	“transcriptional regulation”
DNMT3B	“down-regulates quantity by repression”	GSTM2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 39 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.

GO biological processes:

GO term	Partners	Fold	FDR
DNA methylation-dependent constitutive heterochromatin formation	5	82.4×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	25
Likely pathogenic	14
Uncertain significance	303
Likely benign	477
Benign	25

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069118	NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter)	Pathogenic
1070976	NM_006892.4(DNMT3B):c.996del (p.Met332fs)	Pathogenic
1202608	NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)	Pathogenic
1453417	NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter)	Pathogenic
2138340	NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala)	Pathogenic
2736958	NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)	Pathogenic
2737775	NM_006892.4(DNMT3B):c.1466_1488del (p.Leu489fs)	Pathogenic
2760966	NM_006892.4(DNMT3B):c.2197C>T (p.Arg733Ter)	Pathogenic
2828402	NM_006892.4(DNMT3B):c.2044_2047del (p.Ser682fs)	Pathogenic
2874786	NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)	Pathogenic
2967369	NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)	Pathogenic
3248262	NC_000020.10:g.(?31368130)(31592146_?)del	Pathogenic
3664006	NM_006892.4(DNMT3B):c.93del (p.Ser32fs)	Pathogenic
4711801	NM_006892.4(DNMT3B):c.8del (p.Gly3fs)	Pathogenic
6733	NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly)	Pathogenic
6734	NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)	Pathogenic
6736	NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser)	Pathogenic
6737	DNMT3B, LEU656THR	Pathogenic
6738	DNMT3B, EX21-22DEL	Pathogenic
6739	DNMT3B, 1-BP INS, CODON 53	Pathogenic
6742	NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly)	Pathogenic
6743	NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter)	Pathogenic
6745	NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro)	Pathogenic
950309	NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter)	Pathogenic
958878	NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter)	Pathogenic
1683645	NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly)	Likely pathogenic
1705256	NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)	Likely pathogenic
2708351	NM_006892.4(DNMT3B):c.654+1G>C	Likely pathogenic
2736959	NM_006892.4(DNMT3B):c.2296G>C (p.Ala766Pro)	Likely pathogenic
2741913	NM_006892.4(DNMT3B):c.2009G>A (p.Arg670Gln)	Likely pathogenic

SpliceAI

3710 predictions. Top by Δscore:

Variant	Effect	Δscore
20:32780438:G:GT	donor_gain	1.0000
20:32780459:A:G	donor_gain	1.0000
20:32784857:GCT:G	donor_gain	1.0000
20:32786626:GG:G	donor_gain	1.0000
20:32786627:GG:G	donor_gain	1.0000
20:32786628:G:T	donor_gain	1.0000
20:32787228:A:AG	acceptor_gain	1.0000
20:32787229:G:GA	acceptor_gain	1.0000
20:32791706:G:GT	donor_gain	1.0000
20:32791707:AG:A	donor_loss	1.0000
20:32791708:GGTAA:G	donor_loss	1.0000
20:32791709:G:GA	donor_loss	1.0000
20:32795406:CAGA:C	acceptor_loss	1.0000
20:32795407:A:AC	acceptor_loss	1.0000
20:32795407:A:AG	acceptor_gain	1.0000
20:32795408:G:GG	acceptor_gain	1.0000
20:32795408:GA:G	acceptor_gain	1.0000
20:32795408:GAGA:G	acceptor_gain	1.0000
20:32795532:GAGGT:G	donor_loss	1.0000
20:32795533:AG:A	donor_loss	1.0000
20:32795534:GGTGA:G	donor_loss	1.0000
20:32795535:G:GA	donor_loss	1.0000
20:32795645:A:AG	acceptor_gain	1.0000
20:32795647:TAG:T	acceptor_loss	1.0000
20:32795648:A:AG	acceptor_gain	1.0000
20:32795648:AGAAC:A	acceptor_loss	1.0000
20:32795649:G:A	acceptor_loss	1.0000
20:32795649:G:GG	acceptor_gain	1.0000
20:32795649:GAA:G	acceptor_gain	1.0000
20:32795649:GAAC:G	acceptor_gain	1.0000

AlphaMissense

5591 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:32788887:T:A	W230R	1.000
20:32788887:T:C	W230R	1.000
20:32788914:T:A	W239R	1.000
20:32788914:T:C	W239R	1.000
20:32788916:G:C	W239C	1.000
20:32788916:G:T	W239C	1.000
20:32788918:C:A	P240H	1.000
20:32788977:T:A	W260R	1.000
20:32788977:T:C	W260R	1.000
20:32788981:T:A	V261D	1.000
20:32788986:T:A	W263R	1.000
20:32788986:T:C	W263R	1.000
20:32788988:G:C	W263C	1.000
20:32788988:G:T	W263C	1.000
20:32792707:T:A	W335R	1.000
20:32792707:T:C	W335R	1.000
20:32792709:G:C	W335C	1.000
20:32792709:G:T	W335C	1.000
20:32797241:T:A	C478S	1.000
20:32797241:T:C	C478R	1.000
20:32797242:G:A	C478Y	1.000
20:32797242:G:C	C478S	1.000
20:32797242:G:T	C478F	1.000
20:32797243:C:G	C478W	1.000
20:32797250:T:C	C481R	1.000
20:32797277:T:C	C490R	1.000
20:32797279:C:G	C490W	1.000
20:32798467:T:C	C500R	1.000
20:32798468:G:A	C500Y	1.000
20:32798469:T:G	C500W	1.000

dbSNP variants (sampled 300 via entrez): RS1000009328 (20:32763322 C>T), RS1000040587 (20:32800605 C>G,T), RS1000083683 (20:32796317 G>C), RS1000137442 (20:32796620 C>A), RS1000155795 (20:32783012 C>T), RS1000164217 (20:32761192 T>C), RS1000233398 (20:32790195 C>G), RS1000294419 (20:32807098 G>A,C), RS1000376045 (20:32788177 C>T), RS1000386763 (20:32784562 C>T), RS1000429879 (20:32802292 T>A,C), RS1000439076 (20:32784766 A>G), RS1000648709 (20:32792986 T>A), RS1000850175 (20:32771501 C>T), RS1000936363 (20:32774069 G>A)

Disease associations

OMIM: gene MIM:602900 | disease phenotypes: MIM:242860, MIM:619478, MIM:147920

GenCC curated gene-disease

Disease	Classification	Inheritance
immunodeficiency-centromeric instability-facial anomalies syndrome 1	Definitive	Autosomal recessive
immunodeficiency-centromeric instability-facial anomalies syndrome	Supportive	Autosomal recessive
facioscapulohumeral muscular dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
immunodeficiency-centromeric instability-facial anomalies syndrome 1	Strong	AR

Mondo (5): immunodeficiency-centromeric instability-facial anomalies syndrome (MONDO:0000133), immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MONDO:0009454), facioscapulohumeral muscular dystrophy 4, digenic (MONDO:0030355), Kabuki syndrome 1 (MONDO:0007843), facioscapulohumeral muscular dystrophy (MONDO:0001347)

Orphanet (2): ICF syndrome (Orphanet:2268), Kabuki syndrome (Orphanet:2322)

HPO phenotypes

77 total (30 of 77 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000246	Sinusitis
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000298	Mask-like facies
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000463	Anteverted nares
HP:0000491	Keratitis
HP:0000509	Conjunctivitis
HP:0000541	Retinal detachment
HP:0000572	Visual loss
HP:0000767	Pectus excavatum
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001288	Gait disturbance
HP:0001334	Communicating hydrocephalus
HP:0001508	Failure to thrive
HP:0001537	Umbilical hernia
HP:0001538	Protuberant abdomen
HP:0001874	Abnormality of neutrophils
HP:0001888	Decreased total lymphocyte count
HP:0001903	Anemia
HP:0002014	Diarrhea
HP:0002024	Malabsorption

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001725_64	Inflammatory bowel disease	1.000000e-09
GCST004570_12	Iron status biomarkers (iron levels)	8.000000e-07
GCST004627_107	Lymphocyte count	2.000000e-09
GCST004632_77	Lymphocyte percentage of white cells	1.000000e-10
GCST005537_52	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	4.000000e-09
GCST006085_102	Prostate cancer	3.000000e-08
GCST006614_105	Total cholesterol levels	5.000000e-08
GCST007096_106	Pulse pressure	5.000000e-10
GCST007269_141	Pulse pressure	4.000000e-08
GCST008496_1	Nicotine dependence	4.000000e-08
GCST010135_49	Oily fish consumption	4.000000e-08
GCST010140_39	Pork consumption	4.000000e-08
GCST010703_192	Brain morphology (MOSTest)	8.000000e-11
GCST90000025_638	Appendicular lean mass	2.000000e-22
GCST90000025_639	Appendicular lean mass	3.000000e-19
GCST90002388_576	Lymphocyte count	2.000000e-15
GCST90002389_418	Lymphocyte percentage of white cells	2.000000e-13

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004574	total cholesterol measurement
EFO:0005763	pulse pressure measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004980	appendicular lean mass

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020391	Muscular Dystrophy, Facioscapulohumeral	C05.651.534.500.400; C10.668.491.175.500.400; C16.320.577.400
C537362	Immunodeficiency syndrome, variable (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3885560 (PROTEIN COMPLEX), CHEMBL6095 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 195 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL2106789	NANAFROCIN	2	195

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

ChEMBL bioactivities

52 potent at pChembl≥5 of 85 total, top 48 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.70	IC50	200	nM	S-ADENOSYLHOMOCYSTEINE
6.60	IC50	250	nM	S-ADENOSYLHOMOCYSTEINE
6.58	IC50	260	nM	CHEMBL555257
6.52	IC50	300	nM	CHEMBL5178532
6.52	IC50	300	nM	S-ADENOSYLHOMOCYSTEINE
6.52	IC50	300	nM	CHEMBL552309
6.52	IC50	300	nM	CHEMBL557902
6.30	IC50	500	nM	NANAFROCIN
6.22	IC50	600	nM	CHEMBL560105
6.22	IC50	600	nM	CHEMBL555352
6.16	IC50	700	nM	S-ADENOSYLHOMOCYSTEINE
6.14	IC50	730	nM	NANAFROCIN
6.05	IC50	900	nM	CHEMBL1564869
6.05	IC50	900	nM	CHEMBL560505
6.04	IC50	920	nM	CHEMBL559283
6.00	IC50	1000	nM	CHEMBL4208004
6.00	IC50	1000	nM	CHEMBL560045
6.00	IC50	1000	nM	CHEMBL556265
5.92	IC50	1200	nM	CHEMBL4170114
5.89	IC50	1300	nM	CHEMBL5189142
5.88	IC50	1320	nM	CHEMBL5575739
5.88	IC50	1320	nM	CHEMBL4878570
5.82	IC50	1500	nM	NANAFROCIN
5.82	IC50	1500	nM	CHEMBL550440
5.72	IC50	1900	nM	CHEMBL560106
5.72	IC50	1910	nM	CHEMBL2336409
5.70	EC50	2000	nM	CHEMBL4782554
5.70	IC50	2000	nM	CHEMBL549412
5.70	IC50	2000	nM	CHEMBL563024
5.64	IC50	2300	nM	CHEMBL4856110
5.55	EC50	2800	nM	CHEMBL4755532
5.52	IC50	3000	nM	CHEMBL552246
5.50	EC50	3200	nM	CHEMBL4782068
5.44	IC50	3600	nM	CHEMBL560306
5.36	EC50	4400	nM	CHEMBL4761671
5.36	EC50	4400	nM	CHEMBL4745197
5.33	EC50	4700	nM	CHEMBL4757027
5.32	IC50	4800	nM	CHEMBL4645141
5.29	EC50	5100	nM	CHEMBL4797538
5.28	EC50	5300	nM	CHEMBL4748200
5.24	EC50	5700	nM	CHEMBL4741457
5.18	IC50	6600	nM	CHEMBL5191050
5.17	EC50	6700	nM	CHEMBL4789197
5.17	IC50	6800	nM	CHEMBL561047
5.17	IC50	6800	nM	CHEMBL538692
5.12	IC50	7500	nM	CHEMBL2336409
5.10	IC50	8000	nM	CHEMBL4645141
5.00	IC50	1e+04	nM	CHEMBL4634562

PubChem BioAssay actives

48 with measured affinity, of 190 total; 40 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S)-2-amino-4-[[(2S,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	0.2000	uM
(2S,4S)-4-[[(2S,3S,4R,5R)-3,4-dihydroxy-5-[6-[2-(4-phenylphenyl)ethylamino]purin-9-yl]oxolan-2-yl]methylsulfanyl]pyrrolidine-2-carboxylic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	0.2600	uM
(2S)-2-amino-4-[[(2S,3S,4R,5R)-5-(4-aminopyrrolo[2,3-d]pyrimidin-7-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	0.3000	uM
(2S)-2-amino-6-[[4-amino-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-2-oxopyrimidin-5-yl]methylsulfanyl]hexanoic acid	1882673: Inhibition of human C-terminal domain DNMT3b catalytic domain (568 to 853 residues) expressed in Escherichia coli BL21 (DE3) pLysS cells assessed as inhibition of methylated dI-dC formation using poly dI-dC and [Me-3H]SAM as substrate incubated for 45 mins in presence of DNMT3L by liquid scintillation counting analysis	ic50	0.3000	uM
(2S,4S)-4-[[(2S,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]pyrrolidine-2-carboxylic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	0.3000	uM
2-[(1S,3R)-9-hydroxy-1-methyl-5,10-dioxo-3,4-dihydro-1H-benzo[g]isochromen-3-yl]acetic acid	1199271: Inhibition of His6-tagged human recombinant DNMT3b expressed in insect Sf9 cells assessed as reduction in DNA methyltransferase activity using 5’-biotinylated 45-bp unmethylated or hemimethylated oligonucleotide substrates and [3H]-AdoMet by liquid scintillation counting method	ic50	0.5000	uM
2-amino-4-[[(2S,3S,4R,5R)-3,4-dihydroxy-5-[6-(3-phenylpropylamino)purin-9-yl]oxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	0.6000	uM
2-amino-4-[[(2S,3S,4R,5R)-3,4-dihydroxy-5-[6-[2-(4-phenylphenyl)ethylamino]purin-9-yl]oxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	0.6000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-[6-[(3,5-dimethoxyphenyl)methylamino]purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	0.9000	uM
(2S)-2-(1,3-dioxoisoindol-2-yl)-3-(1H-indol-3-yl)propanoic acid	1649847: Inhibition of human recombinant DNMT3B expressed in baculovirus infected insect cells using CpG site containing internally quenched hairpin oligonucleotide DNA substrate and SAM incubated for 30 mins by kinetic fluorogenic assay	ic50	0.9000	uM
(2S,4S)-4-[[(2S,3S,4R,5R)-5-[2-chloro-6-[2-(4-phenylphenyl)ethylamino]purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]pyrrolidine-2-carboxylic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	0.9200	uM
2-amino-4-[[(2S,3S,4R,5R)-5-(6-amino-2-methylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	1.0000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-[6-(benzylamino)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	1.0000	uM
6-methoxy-2-(5-methylfuran-2-yl)-N-(1-methylpiperidin-4-yl)-7-(3-pyrrolidin-1-ylpropoxy)quinolin-4-amine	1882673: Inhibition of human C-terminal domain DNMT3b catalytic domain (568 to 853 residues) expressed in Escherichia coli BL21 (DE3) pLysS cells assessed as inhibition of methylated dI-dC formation using poly dI-dC and [Me-3H]SAM as substrate incubated for 45 mins in presence of DNMT3L by liquid scintillation counting analysis	ic50	1.2000	uM
4-amino-5-[3-[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]propylsulfanylmethyl]-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one	1882673: Inhibition of human C-terminal domain DNMT3b catalytic domain (568 to 853 residues) expressed in Escherichia coli BL21 (DE3) pLysS cells assessed as inhibition of methylated dI-dC formation using poly dI-dC and [Me-3H]SAM as substrate incubated for 45 mins in presence of DNMT3L by liquid scintillation counting analysis	ic50	1.3000	uM
1-[3-[1,3-di(carbazol-9-yl)propan-2-yloxy]-2-hydroxypropyl]-N-hydroxypiperidine-4-carboxamide	2127256: Inhibition of DNMT3B (unknown origin)	ic50	1.3200	uM
1-[(2R)-3-[1,3-di(carbazol-9-yl)propan-2-yloxy]-2-hydroxypropyl]-N-hydroxypiperidine-4-carboxamide	2092353: Inhibition of DNMT3B/3L (unknown origin)	ic50	1.3200	uM
(2S,4S)-4-[[(2S,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]piperidine-2-carboxylic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	1.5000	uM
(2S,4S)-4-[[(2S,3S,4R,5R)-5-(6-amino-2-chloropurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]pyrrolidine-2-carboxylic acid	424256: Inhibition of human recombinant DNMT3b2	ic50	1.9000	uM
2-amino-4-[[(2S,3S,4R,5R)-3,4-dihydroxy-5-[6-(2-phenylethylamino)purin-9-yl]oxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	2.0000	uM
(2R,3S)-3-iodo-2-(5-methoxy-2-nitrophenyl)-3-nitro-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	2.0000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-(6-anilinopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	2.0000	uM
2-[4-[[[6,7-dimethoxy-2-(5-methylfuran-2-yl)quinolin-4-yl]amino]methyl]piperidin-1-yl]-N-hydroxypyrimidine-5-carboxamide	2127256: Inhibition of DNMT3B (unknown origin)	ic50	2.3000	uM
3-iodo-3-nitro-2-(2-nitrophenyl)-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	2.8000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-(7-aminotriazolo[4,5-d]pyrimidin-3-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	3.0000	uM
(2R,3S)-3-bromo-3-nitro-2-(2-nitrophenyl)-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	3.2000	uM
2-amino-4-[[(2S,3S,4R,5R)-3,4-dihydroxy-5-[6-(pyridin-4-ylmethylamino)purin-9-yl]oxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	3.6000	uM
3-chloro-3-nitro-2-(2-nitrophenyl)-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	4.4000	uM
3-chloro-2-(5-methoxy-2-nitrophenyl)-3-nitro-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	4.4000	uM
(2R,3R)-3-bromo-2-(5-methoxy-2-nitrophenyl)-3-nitro-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	4.7000	uM
3-[3-(6-amino-7H-purin-8-yl)phenyl]-N-methyl-N-[(4-oxo-3H-thieno[3,2-d]pyrimidin-2-yl)methyl]propanamide	1649849: Inhibition of human recombinant DNMT3B expressed in baculovirus infected insect cells by DRONE assay	ic50	4.8000	uM
(2R,3R)-3-bromo-3-nitro-2-(2-nitrophenyl)-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	5.1000	uM
(2R,3S)-3-bromo-2-(5-methoxy-2-nitrophenyl)-3-nitro-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	5.3000	uM
(2R,3S)-3-bromo-2-(2-fluorophenyl)-3-nitro-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	5.7000	uM
(2S)-2-amino-5-[[[4-amino-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-2-oxopyrimidin-5-yl]methylamino]methyl]-6-[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]hexanoic acid	1882673: Inhibition of human C-terminal domain DNMT3b catalytic domain (568 to 853 residues) expressed in Escherichia coli BL21 (DE3) pLysS cells assessed as inhibition of methylated dI-dC formation using poly dI-dC and [Me-3H]SAM as substrate incubated for 45 mins in presence of DNMT3L by liquid scintillation counting analysis	ic50	6.6000	uM
3-bromo-3-nitro-2-phenyl-2H-chromen-4-one	1687593: Inhibition of human DNMT3B expressed in Escherichia coli Rosetta-gamiTM 2(DE3) pLysS competent cells using biotinylated 6-FAM double strand DNA comprising unique CpG site [3H]-SAM incubated for 1 hrs by fluorescence based assay	ec50	6.7000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-(4-aminoimidazo[4,5-c]pyridin-1-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	6.8000	uM
2-amino-4-[[(2S,3S,4R,5R)-5-(6-amino-2-fluoropurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	424222: Inhibition of human recombinant DNMT3b2 expressed in baculovirus infected high five insect cells	ic50	6.8000	uM
N-[4-[(2-amino-6-methylpyrimidin-4-yl)amino]phenyl]-4-(quinolin-4-ylamino)benzamide	1199271: Inhibition of His6-tagged human recombinant DNMT3b expressed in insect Sf9 cells assessed as reduction in DNA methyltransferase activity using 5’-biotinylated 45-bp unmethylated or hemimethylated oligonucleotide substrates and [3H]-AdoMet by liquid scintillation counting method	ic50	7.5000	uM
3-[3-(6-amino-7H-purin-8-yl)phenyl]-N-(1H-indazol-6-ylmethyl)-N-methylpropanamide	1649847: Inhibition of human recombinant DNMT3B expressed in baculovirus infected insect cells using CpG site containing internally quenched hairpin oligonucleotide DNA substrate and SAM incubated for 30 mins by kinetic fluorogenic assay	ic50	10.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Decitabine	increases expression, affects binding, affects cotreatment, decreases expression, affects expression (+4 more)	16
sodium arsenite	decreases expression, decreases reaction, increases expression	10
Arsenic Trioxide	decreases activity, decreases expression, increases expression	8
bisphenol A	affects binding, increases reaction, decreases expression, decreases methylation, increases expression (+1 more)	6
Resveratrol	increases expression, decreases expression, increases reaction, affects binding, decreases reaction	4
hydroquinone	affects expression, affects reaction, decreases expression	3
Folic Acid	affects expression, affects reaction, decreases expression	3
Tetrachlorodibenzodioxin	affects binding, decreases reaction, increases reaction, decreases expression	3
Tretinoin	decreases expression	3
Cyclosporine	decreases expression, increases expression	3
Cadmium Chloride	increases expression	3
Genistein	affects binding, increases reaction, decreases expression	3
methylmercuric chloride	increases expression	2
trichostatin A	affects expression, affects reaction	2
sulforaphane	increases reaction, increases expression, decreases expression, affects binding, decreases reaction	2
epigallocatechin gallate	affects cotreatment, decreases expression, increases expression	2
arsenic disulfide	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Grape Seed Proanthocyanidins	affects cotreatment, increases expression, decreases expression	2
bisphenol S	affects binding, increases reaction, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Acetylcysteine	increases abundance, decreases reaction, increases expression, decreases expression	2
Arsenic	affects metabolic processing, affects methylation, affects reaction	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases mutagenesis	2
Cadmium	affects expression, affects cotreatment, decreases expression, increases expression, decreases reaction	2
Cisplatin	affects cotreatment, increases expression, decreases response to substance	2
Estradiol	increases expression, decreases reaction, affects binding, increases reaction	2
Hydrogen Peroxide	decreases response to substance, increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2

ChEMBL screening assays

76 unique, capped per target: 75 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3592417	Binding	Inhibition of DNMT3B/3L (unknown origin) at 1 uM after 1 hr by filter-based assay	Discovery of A-893, A New Cell-Active Benzoxazinone Inhibitor of Lysine Methyltransferase SMYD2. — ACS Med Chem Lett
CHEMBL5723124	Functional	Affinity Biochemical interaction: (TR-FRET) EUB0002211a DNMT3B	Affinity Biochemical Literature for EUbOPEN Chemogenomic Library

Cellosaurus cell lines

21 cell lines: 11 cancer cell line, 4 induced pluripotent stem cell, 3 embryonic stem cell, 2 transformed cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1A3	SEES3-1V human DNMT3B, clone1	Embryonic stem cell	Male
CVCL_A1A4	SEES3-1V human DNMT3B, clone2	Embryonic stem cell	Male
CVCL_A1A5	SEES3-1V human DNMT3B, clone3	Embryonic stem cell	Male
CVCL_B8ET	Abcam HCT 116 DNMT3B KO	Cancer cell line	Male
CVCL_B8UX	Abcam MCF-7 DNMT3B KO	Cancer cell line	Female
CVCL_B9H1	Abcam A-549 DNMT3B KO	Cancer cell line	Male
CVCL_D8K7	Ubigene HCT 116 DNMT3B KO	Cancer cell line	Male
CVCL_E128	GM08714	Transformed cell line	Female
CVCL_E129	GM08728	Transformed cell line	Female
CVCL_E130	GM08747	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05397470	PHASE3	TERMINATED	Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH)
NCT07038200	PHASE3	RECRUITING	A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD
NCT02927080	PHASE2	TERMINATED	Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT04003974	PHASE2	COMPLETED	Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT04264442	PHASE2	TERMINATED	Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE)
NCT05548556	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate RO7204239 in Participants With Facioscapulohumeral Muscular Dystrophy
NCT06547216	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT07435129	PHASE2	NOT_YET_RECRUITING	Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD
NCT03123913	PHASE1	COMPLETED	Study of Testosterone and rHGH in FSHD
NCT00104078	PHASE1/PHASE2	COMPLETED	Study Evaluating MYO-029 in Adult Muscular Dystrophy
NCT02239224	PHASE1/PHASE2	COMPLETED	Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Participants With Muscular Dystrophy
NCT02531217	PHASE1/PHASE2	COMPLETED	Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension
NCT02579239	PHASE1/PHASE2	COMPLETED	Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT02603562	PHASE1/PHASE2	COMPLETED	Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
NCT02836418	PHASE1/PHASE2	COMPLETED	Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT05747924	PHASE1/PHASE2	COMPLETED	Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT06907875	PHASE1/PHASE2	RECRUITING	A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy
NCT00082108	Not specified	RECRUITING	Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
NCT00821548	Not specified	COMPLETED	Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients
NCT01437345	Not specified	COMPLETED	A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
NCT01596803	Not specified	COMPLETED	Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)
NCT01618331	Not specified	COMPLETED	Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study
NCT01671865	Not specified	ACTIVE_NOT_RECRUITING	Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
NCT01931644	Not specified	COMPLETED	At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
NCT02413190	Not specified	COMPLETED	Bone Health in Facioscapulohumeral Muscular Dystrophy
NCT02625662	Not specified	COMPLETED	Facioscapulohumeral Dystrophy in Children
NCT02766985	Not specified	COMPLETED	Rasch-analysis of Clinical Severity in FSHD
NCT03458832	Not specified	ACTIVE_NOT_RECRUITING	Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
NCT04001582	Not specified	RECRUITING	The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
NCT04267354	Not specified	COMPLETED	Arm Cycling in Facioscapulohumeral Dystrophy (FSHD) Patients
NCT04635891	Not specified	RECRUITING	Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
NCT05019625	Not specified	RECRUITING	Biomarker Development for Muscular Dystrophies
NCT05178706	Not specified	COMPLETED	Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)
NCT05272969	Not specified	UNKNOWN	Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
NCT05409079	Not specified	UNKNOWN	Schulze Muscular Dystrophy Ability Clinical Study
NCT05453461	Not specified	ACTIVE_NOT_RECRUITING	ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
NCT05890833	Not specified	COMPLETED	The Risk of Falls Index for Patients With Neuromuscular Disorders
NCT05902884	Not specified	UNKNOWN	New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.
NCT06086548	Not specified	UNKNOWN	Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics