HS3ST3B1

Summary

HS3ST3B1 (heparan sulfate-glucosamine 3-sulfotransferase 3B1, HGNC:5198) is a protein-coding gene on chromosome 17p12, encoding Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (Q9Y662). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate.

The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9953 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 70 total — 1 pathogenic
• MANE Select transcript: NM_006041

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5198
Approved symbol	HS3ST3B1
Name	heparan sulfate-glucosamine 3-sulfotransferase 3B1
Location	17p12
Locus type	gene with protein product
Status	Approved
Aliases	3OST3B1, 30ST3B1
Ensembl gene	ENSG00000125430
Ensembl biotype	protein_coding
OMIM	604058
Entrez	9953

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000360954, ENST00000466596

RefSeq mRNA: 1 — MANE Select: NM_006041 NM_006041

CCDS: CCDS11167

Canonical transcript exons

ENST00000360954 — 2 exons

Exon	Start	End
ENSE00001402333	14345028	14349404
ENSE00003842317	14301081	14302072

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 94.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7897 / max 239.1053, expressed in 1544 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159645	13.7143	1522
159644	1.2313	696
159643	0.8440	428

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	94.06	gold quality
parotid gland	UBERON:0001831	89.93	gold quality
epithelium of nasopharynx	UBERON:0001951	86.48	gold quality
right lobe of liver	UBERON:0001114	86.12	gold quality
liver	UBERON:0002107	85.78	gold quality
palpebral conjunctiva	UBERON:0001812	85.08	gold quality
placenta	UBERON:0001987	84.66	gold quality
cartilage tissue	UBERON:0002418	83.76	gold quality
esophagus squamous epithelium	UBERON:0006920	82.88	gold quality
gingival epithelium	UBERON:0001949	81.94	gold quality
gingiva	UBERON:0001828	81.25	gold quality
germinal epithelium of ovary	UBERON:0001304	81.01	gold quality
stromal cell of endometrium	CL:0002255	78.41	gold quality
oral cavity	UBERON:0000167	78.37	gold quality
epithelium of esophagus	UBERON:0001976	77.61	gold quality
blood	UBERON:0000178	77.60	gold quality
mucosa of sigmoid colon	UBERON:0004993	77.46	gold quality
granulocyte	CL:0000094	77.38	gold quality
bronchial epithelial cell	CL:0002328	76.87	gold quality
jejunal mucosa	UBERON:0000399	76.79	gold quality
superficial temporal artery	UBERON:0001614	76.76	gold quality
lymph node	UBERON:0000029	76.61	gold quality
squamous epithelium	UBERON:0006914	76.21	gold quality
tonsil	UBERON:0002372	75.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.34	gold quality
saliva-secreting gland	UBERON:0001044	75.07	gold quality
visceral pleura	UBERON:0002401	75.02	gold quality
parietal pleura	UBERON:0002400	74.78	gold quality
pleura	UBERON:0000977	74.36	gold quality
colonic mucosa	UBERON:0000317	73.78	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	319.71
E-GEOD-81608	yes	15.25
E-GEOD-83139	yes	8.35
E-ENAD-27	yes	7.67
E-ANND-3	no	4.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

154 targeting HS3ST3B1, 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-3163	100.00	77.23	8605
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-9-5P	100.00	72.28	2361
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-9983-3P	99.94	71.48	3631

Literature-anchored findings (GeneRIF, showing 6)

• HS3ST3B1 showed potent inhibitory effect on HBV replication. (PMID:20705311)
• the results from this study unveiled a distinct function for 3-OST-3B1 as an Epithelial-mesenchymal transition inducer in cancer and provided a link between histone modification and Epithelial-mesenchymal transition modulation. (PMID:21709440)
• Genetic variants of HS3ST3A1 and HS3ST3B1 are associated with Plasmodium falciparum parasitaemia. (PMID:22475533)
• A genome-wide high-throughput siRNA screen revealed that KIR2DL4 recognition of cell-surface ligand(s) is directly regulated by heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (HS3ST3B1). (PMID:24127555)
• These findings indicate that HS3ST3B1 is a novel regulator of TGF-beta-mediated EMT and is regulated by miR-218 in NSCLC. (PMID:29516954)
• The SNP rs28470223 results in decreased promoter activity of HS3ST3A1 and slightly higher HS3ST3A1 catalytic activity in vitro. (PMID:29718295)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	hs3st1l2	ENSDARG00000035578
danio_rerio	si:dkey-121b10.7	ENSDARG00000059948
danio_rerio	hs3st3b1a	ENSDARG00000099149
mus_musculus	Hs3st3b1	ENSMUSG00000070407
rattus_norvegicus	Hs3st3b1	ENSRNOG00000003384
drosophila_melanogaster	sfl	FBGN0020251
caenorhabditis_elegans		WBGENE00002028

Paralogs (10): HS3ST1 (ENSG00000002587), NDST1 (ENSG00000070614), HS3ST2 (ENSG00000122254), NDST4 (ENSG00000138653), HS3ST3A1 (ENSG00000153976), HS3ST6 (ENSG00000162040), NDST3 (ENSG00000164100), NDST2 (ENSG00000166507), HS3ST4 (ENSG00000182601), HS3ST5 (ENSG00000249853)

Protein

Protein identifiers

Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 — Q9Y662 (reviewed: Q9Y662)

Alternative names: Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1

All UniProt accessions (1): Q9Y662

UniProt curated annotations — full annotation on UniProt →

Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Ubiquitous. Most abundant in liver and placenta, followed by heart and kidney.

Similarity. Belongs to the sulfotransferase 1 family.

RefSeq proteins (1): NP_006032* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000863	Sulfotransferase_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR037359	NST/OST	Family

Pfam: PF00685

Enzyme classification (BRENDA):

• EC 2.8.2.30 — [heparan sulfate]-glucosamine 3-sulfotransferase 3 (BRENDA: 5 organisms, 27 substrates, 0 inhibitors, 1 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• alpha-D-glucosaminyl-heparan sulfate + 3’-phosphoadenylyl sulfate = 3-sulfo-alpha-D-glucosaminyl-heparan sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:15461)

UniProt features (18 total): binding site 7, topological domain 2, glycosylation site 2, region of interest 2, compositionally biased region 2, chain 1, disulfide bond 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y662-F1	83.45	0.69

Functional residue map

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

Ligand- & substrate-binding residues (7): 200–203; 228; 236; 268–269; 353–357; 147–151; 169–175

Disulfide bonds (1): 336–348

Glycosylation sites (2): 258, 329

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022928	HS-GAG biosynthesis

MSigDB gene sets: 291 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TGGTGCT_MIR29A_MIR29B_MIR29C, chr17p12, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, TGCGCANK_UNKNOWN, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEPHRON_EPITHELIUM_DEVELOPMENT, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_RENAL_TUBULE_DEVELOPMENT

GO Biological Process (3): branching involved in ureteric bud morphogenesis (GO:0001658), glycosaminoglycan biosynthetic process (GO:0006024), heparan sulfate proteoglycan biosynthetic process (GO:0015012)

GO Molecular Function (3): [heparan sulfate]-glucosamine 3-sulfotransferase activity (GO:0008467), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)

GO Cellular Component (4): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Heparan sulfate/heparin (HS-GAG) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
aminoglycan biosynthetic process	1
glycosaminoglycan metabolic process	1
proteoglycan biosynthetic process	1
heparan sulfate proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
heparan sulfate sulfotransferase activity	1
transferase activity, transferring sulphur-containing groups	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
membrane	1
cell periphery	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HS3ST3B1	SULT1C3	Q6IMI6	830
HS3ST3B1	SULT1C4	O75897	827
HS3ST3B1	SULT1B1	O43704	825
HS3ST3B1	HS2ST1	Q7LGA3	653
HS3ST3B1	CDRT15	Q96T59	605
HS3ST3B1	HS6ST1	O60243	571
HS3ST3B1	UST	Q9Y2C2	555
HS3ST3B1	HS6ST3	Q8IZP7	547
HS3ST3B1	GLCE	O94923	524
HS3ST3B1	K7EP71	K7EP71	520
HS3ST3B1	HS6ST2	Q96MM7	510
HS3ST3B1	OR52E8	Q6IFG1	496
HS3ST3B1	CHSY1	Q86X52	487
HS3ST3B1	CSGALNACT2	Q8N6G5	478
HS3ST3B1	CHST12	Q9NRB3	470

IntAct

5 interactions, top by confidence:

A	B	Type	Score
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
HS3ST3B1	HSPA9	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): HS3ST3B1 (Affinity Capture-MS), HS3ST3B1 (Affinity Capture-MS), ATL3 (Affinity Capture-MS), HS3ST3B1 (Affinity Capture-MS), ARHGAP40 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), HSPA9 (Affinity Capture-MS), HS3ST3B1 (Affinity Capture-MS), HS3ST3B1 (Affinity Capture-MS), HS3ST3B1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, A2A5I3, O19010, O19011, O42596, P01137, P04202, P04629, P07200, P09533, P16562, P17246, P18341, P35739, P50414, P54108, P54831, P57110, Q01974, Q38HS2, Q3KPV7, Q3UFB7, Q505J3, Q5R7Y0, Q5T4F7, Q60477, Q658N2, Q6UWX4, Q7T141, Q7TSQ1, Q80XH4, Q8BG58, Q91009, Q99JR5, Q9CXM0, Q9D2G9, Q9EQT5, Q9GZM7, Q9H3Y0

Diamond homologs: O14792, O35310, O95803, O97583, Q5GFD5, Q673U1, Q80W66, Q8BKN6, Q8BSL4, Q8IZT8, Q96QI5, Q9EQW8, Q9ESG5, Q9H3R1, Q9QZS6, Q9Y278, Q9Y661, Q9Y662, Q9Y663, P52849, Q60V90, Q966W3, Q9EQH7, Q9V3L1, P52848, P52850, Q02353, Q3UHN9, Q5U4X8, Q6GQK9, Q55GK8, Q91XQ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	63
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3899836	Single allele	Pathogenic

SpliceAI

726 predictions. Top by Δscore:

Variant	Effect	Δscore
17:14345018:C:CA	acceptor_gain	1.0000
17:14302073:G:GG	donor_gain	0.9900
17:14345023:CTCA:C	acceptor_loss	0.9900
17:14345024:TCAG:T	acceptor_loss	0.9900
17:14345025:CAGG:C	acceptor_loss	0.9900
17:14345026:A:AG	acceptor_gain	0.9900
17:14345026:AG:A	acceptor_gain	0.9900
17:14345026:AGG:A	acceptor_gain	0.9900
17:14345027:G:A	acceptor_loss	0.9900
17:14345027:G:GG	acceptor_gain	0.9900
17:14345027:GG:G	acceptor_gain	0.9900
17:14345027:GGG:G	acceptor_gain	0.9900
17:14345027:GGGAC:G	acceptor_gain	0.9900
17:14345640:GGAT:G	donor_gain	0.9900
17:14345641:GAT:G	donor_gain	0.9900
17:14345656:GGC:G	donor_gain	0.9900
17:14345657:GC:G	donor_gain	0.9900
17:14345710:AAAT:A	donor_gain	0.9900
17:14302070:CCGGT:C	donor_loss	0.9800
17:14302073:G:GA	donor_loss	0.9800
17:14302074:TGAG:T	donor_loss	0.9800
17:14302075:GAGT:G	donor_loss	0.9800
17:14318941:G:GT	donor_gain	0.9800
17:14345027:GGGA:G	acceptor_gain	0.9800
17:14345658:C:G	donor_gain	0.9800
17:14345703:G:GG	donor_gain	0.9800
17:14345016:T:TA	acceptor_gain	0.9700
17:14345565:G:GA	donor_gain	0.9700
17:14302046:C:G	donor_gain	0.9600
17:14302070:CCG:C	donor_gain	0.9500

AlphaMissense

2542 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:14301948:G:C	G144R	1.000
17:14301949:G:A	G144D	1.000
17:14301956:G:C	K146N	1.000
17:14301956:G:T	K146N	1.000
17:14301957:A:C	K147Q	1.000
17:14301958:A:T	K147M	1.000
17:14301959:G:C	K147N	1.000
17:14301959:G:T	K147N	1.000
17:14301964:G:A	G149D	1.000
17:14301970:G:C	R151P	1.000
17:14301976:T:C	L153P	1.000
17:14301979:T:C	L154P	1.000
17:14302029:C:G	H171D	1.000
17:14345071:A:C	K200Q	1.000
17:14345073:G:C	K200N	1.000
17:14345073:G:T	K200N	1.000
17:14345078:C:A	P202H	1.000
17:14345171:G:C	R233T	1.000
17:14345171:G:T	R233M	1.000
17:14345172:G:C	R233S	1.000
17:14345172:G:T	R233S	1.000
17:14345179:T:C	S236P	1.000
17:14345183:A:G	D237G	1.000
17:14345183:A:T	D237V	1.000
17:14345293:G:C	G274R	1.000
17:14345320:T:A	W283R	1.000
17:14345320:T:C	W283R	1.000
17:14345372:T:C	L300P	1.000
17:14345450:T:C	F326S	1.000
17:14345469:G:C	K332N	1.000

dbSNP variants (sampled 300 via entrez): RS1000015927 (17:14310391 C>G,T), RS1000016544 (17:14347835 T>C), RS1000031440 (17:14341965 G>C), RS1000051577 (17:14335138 C>A), RS1000059430 (17:14303348 A>G), RS1000085118 (17:14341742 C>T), RS1000087675 (17:14303319 A>G,T), RS1000171338 (17:14341709 A>G), RS1000184192 (17:14314610 G>T), RS1000239195 (17:14309422 T>A,C), RS1000300219 (17:14319354 G>C), RS1000343845 (17:14345293 G>A), RS1000440586 (17:14313728 A>G,T), RS1000543064 (17:14303138 A>G), RS1000611451 (17:14325725 T>G)

Disease associations

OMIM: gene MIM:604058 | disease phenotypes: MIM:118220, MIM:118300, MIM:162500

GenCC curated gene-disease

Mondo (3): Charcot-Marie-Tooth disease type 1A (MONDO:0007309), Charcot-Marie-Tooth disease type 1E (MONDO:0007311), hereditary neuropathy with liability to pressure palsies (MONDO:0008087)

Orphanet (3): Charcot-Marie-Tooth disease type 1A (Orphanet:101081), Hereditary neuropathy with liability to pressure palsies (Orphanet:640), Charcot-Marie-Tooth disease type 1E (Orphanet:90658)

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000189_48	Protein quantitative trait loci	8.000000e-09
GCST001806_26	Corneal structure	7.000000e-10
GCST003817_14	Mortality in sepsis	9.000000e-06
GCST004640_15	Western dietary pattern	5.000000e-06
GCST005667_42	Central corneal thickness	3.000000e-12
GCST006224_7	Right lateral prefrontal cortical growth	1.000000e-06
GCST006585_629	Blood protein levels	3.000000e-06
GCST006979_808	Heel bone mineral density	3.000000e-09
GCST008395_12	End-stage kidney disease	9.000000e-07
GCST009414_8	Central corneal thickness	1.000000e-08
GCST010002_121	Refractive error	4.000000e-27
GCST90000654_66	Central corneal thickness	3.000000e-17

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008392	triiodothyronine measurement
EFO:0004345	corneal topography
EFO:0004352	mortality
EFO:0008111	diet measurement
EFO:0005213	central corneal thickness
EFO:0009270	heel bone mineral density

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C537986	Charcot-Marie-Tooth disease, Type 1E (supp.)
C536965	Tomaculous neuropathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression, decreases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	increases expression, increases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
sotorasib	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
monobutyl phthalate	increases methylation	1
cupric chloride	increases expression	1
resorcinol	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02579759	PHASE3	COMPLETED	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
NCT02600286	PHASE2	TERMINATED	Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT07140614	PHASE1	RECRUITING	A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT06328712	PHASE1/PHASE2	RECRUITING	Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
NCT02357355	Not specified	COMPLETED	Driving Ability in Patients With CMT 1A
NCT02596191	Not specified	ACTIVE_NOT_RECRUITING	Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
NCT03278093	Not specified	UNKNOWN	Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy
NCT06794489	Not specified	RECRUITING	Longitudinal Biomarkers With Selected Outcome Measures In CMT
NCT07049588	Not specified	RECRUITING	Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
NCT07461896	Not specified	RECRUITING	Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP
NCT07476365	Not specified	RECRUITING	A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
NCT07570446	Not specified	RECRUITING	AUTONOMOUS DISORDERS IN CMT
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease