COLGALT2

Summary

COLGALT2 (collagen beta(1-O)galactosyltransferase 2, HGNC:16790) is a protein-coding gene on chromosome 1q25.3, encoding Procollagen galactosyltransferase 2 (Q8IYK4). Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen.

Source: NCBI Gene 23127 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 17
• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_015101

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16790
Approved symbol	COLGALT2
Name	collagen beta(1-O)galactosyltransferase 2
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0584
Ensembl gene	ENSG00000198756
Ensembl biotype	protein_coding
OMIM	617533
Entrez	23127

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361927, ENST00000367520, ENST00000367521, ENST00000486375, ENST00000649786

RefSeq mRNA: 3 — MANE Select: NM_015101 NM_001303420, NM_001303421, NM_015101

CCDS: CCDS1360, CCDS91126

Canonical transcript exons

ENST00000361927 — 12 exons

Exon	Start	End
ENSE00000959463	183978410	183978520
ENSE00000959464	183975097	183975214
ENSE00000959465	183973616	183973750
ENSE00000959466	183969269	183969473
ENSE00000959467	183963901	183964020
ENSE00000959468	183954762	183954838
ENSE00000959469	183951007	183951113
ENSE00000959470	183945432	183945564
ENSE00000959471	183944196	183944323
ENSE00000959472	183940581	183940787
ENSE00003843454	183935834	183939037
ENSE00003846808	184037095	184037728

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 97.17.

FANTOM5 (CAGE): breadth broad, TPM avg 6.3328 / max 307.4100, expressed in 908 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16253	5.2251	830
16249	0.5410	237
16252	0.2403	126
16250	0.2296	120
16251	0.0968	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	97.17	gold quality
corpus callosum	UBERON:0002336	92.69	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.95	gold quality
inferior olivary complex	UBERON:0002127	91.89	gold quality
inferior vagus X ganglion	UBERON:0005363	91.81	gold quality
medial globus pallidus	UBERON:0002477	91.59	gold quality
spinal cord	UBERON:0002240	91.14	gold quality
middle temporal gyrus	UBERON:0002771	91.05	gold quality
globus pallidus	UBERON:0001875	90.70	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.66	gold quality
middle frontal gyrus	UBERON:0002702	90.61	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.19	gold quality
substantia nigra	UBERON:0002038	88.54	gold quality
Ammon’s horn	UBERON:0001954	88.39	gold quality
midbrain	UBERON:0001891	88.38	gold quality
subthalamic nucleus	UBERON:0001906	88.07	gold quality
endothelial cell	CL:0000115	88.06	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.90	gold quality
primary visual cortex	UBERON:0002436	87.52	gold quality
prefrontal cortex	UBERON:0000451	87.49	gold quality
cartilage tissue	UBERON:0002418	87.43	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.38	gold quality
medulla oblongata	UBERON:0001896	87.36	gold quality
frontal cortex	UBERON:0001870	86.94	gold quality
calcaneal tendon	UBERON:0003701	86.94	gold quality
occipital lobe	UBERON:0002021	86.90	gold quality
parietal lobe	UBERON:0001872	86.89	gold quality
right frontal lobe	UBERON:0002810	86.81	gold quality
postcentral gyrus	UBERON:0002581	86.79	gold quality
orbitofrontal cortex	UBERON:0004167	86.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.23
E-MTAB-6108	no	132.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting COLGALT2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6733-5P	99.74	67.94	2759

Literature-anchored findings (GeneRIF, showing 5)

• Two collagen beta(1-O)galactosyltransferases corresponding to the GLT25D1 and GLT25D2 proteins were identified. (PMID:19075007)
• Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis. (PMID:33760386)
• COLGALT2 is overexpressed in ovarian cancer and interacts with PLOD3. (PMID:33783989)
• Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2. (PMID:36538011)
• Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues. (PMID:37208701)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	colgalt2b	ENSDARG00000014670
danio_rerio	colgalt2a	ENSDARG00000078299
mus_musculus	Colgalt2	ENSMUSG00000032649
rattus_norvegicus	Colgalt2	ENSRNOG00000028207
drosophila_melanogaster	CG31915	FBGN0051915
caenorhabditis_elegans		WBGENE00008426

Paralogs (5): PLOD1 (ENSG00000083444), PLOD3 (ENSG00000106397), COLGALT1 (ENSG00000130309), PLOD2 (ENSG00000152952), CERCAM (ENSG00000167123)

Protein

Protein identifiers

Procollagen galactosyltransferase 2 — Q8IYK4 (reviewed: Q8IYK4)

Alternative names: Collagen beta(1-O)galactosyltransferase 2, Glycosyltransferase 25 family member 2, Hydroxylysine galactosyltransferase 2

All UniProt accessions (4): Q8IYK4, A0A3B3IT37, Q5SXQ3, Q5SXQ5

UniProt curated annotations — full annotation on UniProt →

Function. Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Expressed in brain and skeletal muscle.

Similarity. Belongs to the glycosyltransferase 25 family.

RefSeq proteins (3): NP_001290349, NP_001290350, NP_055916* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002654	Glyco_trans_25	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR050757	Collagen_mod_GT25	Family

Pfam: PF01755, PF13704

Enzyme classification (BRENDA):

• EC 2.4.1.50 — procollagen galactosyltransferase (BRENDA: 7 organisms, 62 substrates, 25 inhibitors, 19 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
COLLAGEN	0.0008–0.0072	2
UDP-GALACTOSE	0.0188–0.0335	2
UDPGALACTOSE	0.03–0.049	2
CALF SKIN COLLAGEN	0.028	1
ICHTHYOCOL	0.28	1

Catalyzed reactions (Rhea), 1 shown:

• (5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP + H(+) (RHEA:12637)

UniProt features (9 total): glycosylation site 4, signal peptide 1, chain 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYK4-F1	88.44	0.78

Functional residue map

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

Glycosylation sites (4): 97, 185, 382, 580

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1650814	Collagen biosynthesis and modifying enzymes

MSigDB gene sets: 149 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, MORF_MSH3, MORF_BRCA1, MORF_RAD51L3, MODULE_205, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_IL4, MARTIN_NFKB_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, DBP_Q6, MORF_ATF2, MODULE_11, MORF_BCL2L11, RIGGI_EWING_SARCOMA_PROGENITOR_UP

GO Biological Process (1): collagen fibril organization (GO:0030199)

GO Molecular Function (4): procollagen galactosyltransferase activity (GO:0050211), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (2): endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Collagen formation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix organization	1
UDP-galactosyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
transferase activity	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COLGALT2	RWDD2B	P57060	486
COLGALT2	P3H2	Q8IVL5	371
COLGALT2	RPL10A	P52859	371
COLGALT2	PRAMEF19	Q5SWL8	371
COLGALT2	SSMEM1	Q8WWF3	363
COLGALT2	P3H4	Q92791	354
COLGALT2	B3GALNT2	Q8NCR0	341
COLGALT2	BBOF1	Q8ND07	331
COLGALT2	PLOD3	O60568	327
COLGALT2	PLOD1	Q02809	311
COLGALT2	EFR3A	Q14156	311
COLGALT2	CMTM5	Q96DZ9	309
COLGALT2	B4GALT4	O60513	308
COLGALT2	GALNT3	Q14435	303
COLGALT2	FAM53A	Q6NSI3	301

IntAct

59 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
HPCAL1	COLGALT2	psi-mi:“MI:0915”(physical association)	0.600
COLGALT2	HPCAL1	psi-mi:“MI:0915”(physical association)	0.600
C1QTNF3	COLGALT2	psi-mi:“MI:0915”(physical association)	0.590
COLGALT2	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	COLGALT2	psi-mi:“MI:0915”(physical association)	0.560
SEMG1	COLGALT2	psi-mi:“MI:0915”(physical association)	0.560
COLGALT2	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
PSG9	CCDC85C	psi-mi:“MI:0914”(association)	0.530
COL10A1	C1QL1	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
COLGALT2	COL1A1	psi-mi:“MI:0914”(association)	0.530
CACNB4	CACNB3	psi-mi:“MI:0914”(association)	0.530
CNPY3	SELENOT	psi-mi:“MI:0914”(association)	0.530
CNKSR3	COLGALT2	psi-mi:“MI:0914”(association)	0.530
C1QTNF9B	PLOD3	psi-mi:“MI:0914”(association)	0.530
ADIPOQ	C1QL1	psi-mi:“MI:0914”(association)	0.530
PLOD3	COL4A1	psi-mi:“MI:0914”(association)	0.530
COLQ	PLOD2	psi-mi:“MI:0914”(association)	0.350
COL8A2	P4HA2	psi-mi:“MI:0914”(association)	0.350
MSR1	COL4A2	psi-mi:“MI:0914”(association)	0.350
COLEC11	COL6A1	psi-mi:“MI:0914”(association)	0.350

BioGRID (105): UBQLN1 (Two-hybrid), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS)

ESM2 similar proteins: A0JPH3, A1YGR5, A3KGW5, A5PMF6, A7MB73, O00469, O14638, O43909, O77588, P06802, P15396, P24802, P26572, P27115, P27808, P50127, P79948, P79949, P97675, Q02809, Q09325, Q32NJ7, Q3L7M0, Q5IGR6, Q5R5M5, Q5R9N3, Q5T4B2, Q5U309, Q5U483, Q5XPT3, Q5ZLK4, Q63321, Q66PG1, Q66PG2, Q66PG4, Q6DYE8, Q6NVG7, Q6P7A1, Q6P9A2, Q6PA90

Diamond homologs: A0JPH3, A3KGW5, A5PK45, A5PMF6, A7MB73, O77588, Q17FB8, Q29NU5, Q5T4B2, Q5U309, Q5U367, Q5U483, Q6NVG7, Q7Q021, Q811A3, Q8IPK4, Q8IYK4, Q8K297, Q8NBJ5, Q9R0E1, Q9R0E2, P57033, P71398, Q50947, Q50950, Q51116, Q51117, Q57394, Q5UQ62, Q5UQC3, Q02809, Q5R9N3, Q9VTH0, Q03974, Q63321, O00469, O60568, P24802, Q20679, Q5R6K5

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
COLGALT2	“up-regulates activity”	COL1A1	glycosylation
COLGALT2	“up-regulates activity”	COL1A2	glycosylation
COLGALT2	“up-regulates activity”	COL3A1	glycosylation
COLGALT2	“up-regulates activity”	COL4A1	glycosylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Scavenging by Class A Receptors	6	100.2×	4e-10
Collagen chain trimerization	10	72.1×	4e-15
Collagen biosynthesis and modifying enzymes	14	66.3×	6e-21
Collagen degradation	10	48.8×	2e-13
NCAM1 interactions	7	48.3×	2e-09
Assembly of collagen fibrils and other multimeric structures	8	44.5×	2e-10
Integrin cell surface interactions	10	37.3×	2e-12
ECM proteoglycans	6	25.0×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
collagen fibril organization	7	35.0×	5e-07
cellular response to amino acid stimulus	5	34.0×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2401 predictions. Top by Δscore:

Variant	Effect	Δscore
1:183939038:C:CC	acceptor_gain	1.0000
1:183940574:GACT:G	donor_loss	1.0000
1:183940575:ACTC:A	donor_loss	1.0000
1:183940576:CTC:C	donor_loss	1.0000
1:183940578:CACAC:C	donor_loss	1.0000
1:183940579:A:AC	donor_gain	1.0000
1:183940579:A:T	donor_loss	1.0000
1:183940580:C:CC	donor_gain	1.0000
1:183940580:C:CG	donor_loss	1.0000
1:183940580:CA:C	donor_gain	1.0000
1:183940580:CACG:C	donor_gain	1.0000
1:183940616:AT:A	donor_gain	1.0000
1:183940617:T:C	donor_gain	1.0000
1:183940783:TATAA:T	acceptor_gain	1.0000
1:183940785:TAA:T	acceptor_gain	1.0000
1:183940788:C:CC	acceptor_gain	1.0000
1:183944187:GTCAC:G	donor_loss	1.0000
1:183944188:TCACT:T	donor_loss	1.0000
1:183944189:CACTC:C	donor_loss	1.0000
1:183944190:ACTC:A	donor_loss	1.0000
1:183944191:CTCA:C	donor_loss	1.0000
1:183944192:TCA:T	donor_loss	1.0000
1:183944193:C:CG	donor_loss	1.0000
1:183944194:A:AC	donor_gain	1.0000
1:183944194:A:AT	donor_loss	1.0000
1:183944195:C:CC	donor_gain	1.0000
1:183944195:CA:C	donor_gain	1.0000
1:183944195:CAT:C	donor_gain	1.0000
1:183944321:TACC:T	acceptor_loss	1.0000
1:183944322:ACCT:A	acceptor_loss	1.0000

AlphaMissense

4114 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:183944283:T:A	D437V	1.000
1:183944284:C:G	D437H	1.000
1:183940617:T:A	D523V	0.999
1:183940699:A:G	W496R	0.999
1:183940699:A:T	W496R	0.999
1:183940775:C:A	R470S	0.999
1:183940775:C:G	R470S	0.999
1:183940776:C:A	R470M	0.999
1:183940776:C:G	R470T	0.999
1:183944280:T:A	D438V	0.999
1:183944283:T:G	D437A	0.999
1:183944286:T:A	E436V	0.999
1:183945440:A:G	W421R	0.999
1:183945440:A:T	W421R	0.999
1:183945453:G:C	S416R	0.999
1:183945453:G:T	S416R	0.999
1:183945455:T:G	S416R	0.999
1:183951079:C:A	R355M	0.999
1:183951088:C:G	R352T	0.999
1:183951097:A:G	L349P	0.999
1:183938932:A:C	S570R	0.998
1:183938932:A:T	S570R	0.998
1:183938934:T:G	S570R	0.998
1:183940616:A:C	D523E	0.998
1:183940616:A:T	D523E	0.998
1:183940617:T:G	D523A	0.998
1:183940618:C:G	D523H	0.998
1:183944199:A:G	L465P	0.998
1:183944279:A:C	D438E	0.998
1:183944279:A:T	D438E	0.998

dbSNP variants (sampled 300 via entrez): RS1000000445 (1:183946922 T>C), RS1000007086 (1:183989208 A>T), RS1000110919 (1:184016547 G>C), RS1000143237 (1:183947160 A>T), RS1000195740 (1:183941150 G>A), RS1000237277 (1:184025476 A>C,G), RS1000264543 (1:183983464 A>G), RS1000267174 (1:184009645 T>A), RS1000291396 (1:184025752 T>C), RS1000353542 (1:183938903 T>C), RS1000362846 (1:183995821 A>G), RS1000370317 (1:183976653 A>G), RS1000406491 (1:183935633 C>G), RS1000414315 (1:183973404 AT>A,ATT), RS1000538109 (1:184032022 T>C)

Disease associations

OMIM: gene MIM:617533 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (1): Tourette syndrome (MONDO:0007661)

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000175_36	Height	8.000000e-09
GCST000253_7	Attention deficit hyperactivity disorder and conduct disorder	9.000000e-06
GCST000611_14	Height	7.000000e-06
GCST001956_59	Height	2.000000e-13
GCST002647_92	Height	5.000000e-51
GCST002702_29	Height	1.000000e-18
GCST006993_2	Hippocampal volume in Alzheimer’s disease dementia	3.000000e-07
GCST008163_339	Height	1.000000e-08
GCST008839_400	Height	7.000000e-45
GCST012226_592	Waist circumference adjusted for body mass index	5.000000e-09
GCST012227_1173	Hip circumference adjusted for BMI	2.000000e-08
GCST90000025_836	Appendicular lean mass	2.000000e-19
GCST90020028_272	Hip circumference adjusted for BMI	1.000000e-13
GCST90020028_273	Hip circumference adjusted for BMI	1.000000e-14
GCST90020028_274	Hip circumference adjusted for BMI	3.000000e-23
GCST90020029_1012	Waist circumference adjusted for body mass index	8.000000e-13
GCST90020029_1111	Waist circumference adjusted for body mass index	5.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	5
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
belinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, affects cotreatment	1
trichostatin A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	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	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation, affects cotreatment, increases methylation	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Asbestos	affects methylation	1
Carbamazepine	affects expression	1
Dexamethasone	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	PHASE4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	PHASE4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	PHASE4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	PHASE4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	PHASE4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	PHASE4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00004376	PHASE3	COMPLETED	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323	PHASE3	COMPLETED	A Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336	PHASE3	COMPLETED	An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842	PHASE3	COMPLETED	Pallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863	PHASE3	TERMINATED	Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695	PHASE3	COMPLETED	Phase III Study of 5LGr to Treat Tic Disorder
NCT03087201	PHASE3	COMPLETED	CANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783	PHASE3	COMPLETED	Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291	PHASE3	TERMINATED	Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256	PHASE3	COMPLETED	A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
NCT00004393	PHASE2	COMPLETED	Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652	PHASE2	COMPLETED	Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985	PHASE2	COMPLETED	Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909	PHASE2	COMPLETED	Thalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308	PHASE2	COMPLETED	Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467	PHASE2	COMPLETED	Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549	PHASE2	TERMINATED	Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353	PHASE2	WITHDRAWN	A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383	PHASE2	WITHDRAWN	Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269	PHASE2	COMPLETED	A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773	PHASE2	COMPLETED	Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698	PHASE2	COMPLETED	Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007	PHASE2	WITHDRAWN	A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206	PHASE2	COMPLETED	VoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084	PHASE2	COMPLETED	Subthalamic Stimulation in Tourette’s Syndrome
NCT02679079	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578	PHASE2	COMPLETED	Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193	PHASE2	COMPLETED	Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244	PHASE2	TERMINATED	Safety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010	PHASE2	COMPLETED	Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038	PHASE2	COMPLETED	Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome