EXT2

Summary

EXT2 (exostosin glycosyltransferase 2, HGNC:3513) is a protein-coding gene on chromosome 11p11.2, encoding Exostosin-2 (Q93063). Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone. It is a selective cancer dependency (DepMap: 12.9% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Source: NCBI Gene 2132 — RefSeq curated summary.

At a glance

• Gene–disease (curated): exostoses, multiple, type 2 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 1,033 total — 196 pathogenic, 41 likely-pathogenic
• Phenotypes (HPO): 142
• Cancer dependency (DepMap): dependent in 12.9% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_207122

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3513
Approved symbol	EXT2
Name	exostosin glycosyltransferase 2
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	SOTV
Ensembl gene	ENSG00000151348
Ensembl biotype	protein_coding
OMIM	608210
Entrez	2132

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 17 protein_coding, 6 retained_intron, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000343631, ENST00000358681, ENST00000395673, ENST00000525559, ENST00000528159, ENST00000529186, ENST00000531161, ENST00000533608, ENST00000534048, ENST00000682359, ENST00000682711, ENST00000682815, ENST00000682947, ENST00000682993, ENST00000683000, ENST00000683204, ENST00000683299, ENST00000683870, ENST00000683881, ENST00000684039, ENST00000684124, ENST00000684437, ENST00000684533, ENST00000860016, ENST00000860017, ENST00000860018, ENST00000860019, ENST00000860020, ENST00000860021, ENST00000860022, ENST00000958404, ENST00000958405

RefSeq mRNA: 5 — MANE Select: NM_207122 NM_000401, NM_001178083, NM_001389628, NM_001389630, NM_207122

CCDS: CCDS53619, CCDS7908

Canonical transcript exons

ENST00000533608 — 14 exons

Exon	Start	End
ENSE00000824551	44197829	44198018
ENSE00000999053	44124789	44124984
ENSE00001101378	44236293	44236375
ENSE00001324401	44095678	44095852
ENSE00002176251	44244149	44251962
ENSE00003477895	44171611	44171742
ENSE00003505813	44206793	44206959
ENSE00003519127	44114185	44114301
ENSE00003525485	44130045	44130138
ENSE00003545357	44107683	44108248
ENSE00003556991	44232353	44232496
ENSE00003558187	44109194	44109283
ENSE00003646599	44234115	44234243
ENSE00003663664	44126816	44126955

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.8422 / max 315.0899, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113981	36.3265	1821
113980	6.8219	1745
113982	6.7590	1751
113983	6.7248	1704
113984	1.2100	570

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.35	gold quality
cartilage tissue	UBERON:0002418	94.92	gold quality
smooth muscle tissue	UBERON:0001135	94.87	gold quality
tibia	UBERON:0000979	94.53	gold quality
islet of Langerhans	UBERON:0000006	94.21	gold quality
body of uterus	UBERON:0009853	93.53	gold quality
thoracic aorta	UBERON:0001515	93.49	gold quality
ascending aorta	UBERON:0001496	93.47	gold quality
right coronary artery	UBERON:0001625	93.47	gold quality
descending thoracic aorta	UBERON:0002345	93.30	gold quality
ventricular zone	UBERON:0003053	93.29	gold quality
periodontal ligament	UBERON:0008266	93.15	gold quality
left uterine tube	UBERON:0001303	92.87	gold quality
left coronary artery	UBERON:0001626	92.60	gold quality
endocervix	UBERON:0000458	92.51	gold quality
aorta	UBERON:0000947	92.39	gold quality
coronary artery	UBERON:0001621	92.23	gold quality
gall bladder	UBERON:0002110	92.15	gold quality
pericardium	UBERON:0002407	92.11	gold quality
myometrium	UBERON:0001296	92.00	gold quality
left ovary	UBERON:0002119	91.93	gold quality
right ovary	UBERON:0002118	91.91	gold quality
popliteal artery	UBERON:0002250	91.66	gold quality
tibial artery	UBERON:0007610	91.66	gold quality
placenta	UBERON:0001987	91.59	gold quality
ectocervix	UBERON:0012249	91.56	gold quality
peritoneum	UBERON:0002358	91.52	gold quality
omental fat pad	UBERON:0010414	91.52	gold quality
decidua	UBERON:0002450	91.40	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting EXT2, 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-188-3P	100.00	68.76	1240
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-1207-3P	98.99	66.22	1532

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 12.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins (PMID:12907669)
• 112delAT causes multiple exostoses, indicating full penetrance since relatives with isolated exotoses lacked this deletion. (PMID:14654969)
• Variations in EXT2 gene is associated with multiple osteochondromas (PMID:15586175)
• Promoter methylation was not detected in any of the chondrosarcoma cases in EXT2. (PMID:15796962)
• analysis of multiple osteochondroma-related mutations in EXT1 and EXT2 (PMID:16088908)
• We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene)in hereditary multiple exostoses (PMID:16638657)
• Detection of mutations in EXT2 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas. (PMID:17301954)
• Hereditary multiple exostosis patients with mutations in EXT1 gene have more anatomic abnormality and burden than those with EXT2 mutations. (PMID:17589361)
• Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature. (PMID:17676624)
• capacity of wild type EXT2 to enhance heparan sulfate chain length together with EXT1 was not shared by the EXT2-Y419X mutant (PMID:17761672)
• A novel mutation, c505 G > T, in the EXT2 gene was identified in two unrelated Chinese families with hereditary multiple exostoses. (PMID:18294062)
• found EXT1 to be responsible in seven families (19 affected members) and EXT2 in four families (17 affected members) with multiple osteochondromas (PMID:18373409)
• A novel mutation in EXT2 gene in a Chinese family with hereditary exostoses is reported. (PMID:18666861)
• Data show that SNPs in EXT2 did not confer a significant risk for type 2 diabetes in Pima Indians. (PMID:19008344)
• The tumor suppressor gene EXT2 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. (PMID:19179614)
• A previously unreported stop mutation, the substitution c.817C>T, was observed in the EXT2 gene in an Indian pedigree of hereditary multiple exostoses families. (PMID:19309273)
• Novel mutations have been identified in the EXT1 and the EXT2 gene in 17 Multiple Osteochondromas patients. (PMID:19344451)
• Two novel EXT1 gene mutations and two novel EXT2 gene mutations were identified in two and three hereditary multiple exostoses pedigrees, respectively. (PMID:19839753)
• The nonsens mutation 536G>A in the EXT2 is the disease-causing mutation in a family with hereditary multiple exostoses. (PMID:20140877)
• results clearly indicate that, in most cases, biallelic inactivation of EXT genes does not account for osteochondromas formation; this mechanism should be regarded as a common feature for hereditary osteochondromas transformation (PMID:20418910)
• Loss of heterozygosity for EXT2 is associated with multiple osteochondromas. (PMID:20813973)
• primary defect in EXT2 mRNA level can produce profound effect on the synthesis of HS chains in cartilage, the consequence of which impacts on the regulation of chondrocyte proliferation and differentiation. (PMID:20872591)
• 8 novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses were identified. (PMID:21039224)
• Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis. (PMID:21499719)
• Association of genetic variations in EXT2 with Type 2 diabetes mellitus in Tunisia (PMID:21510814)
• Molecular characterization of EXT1- and EXT2-deletion breakpoints in multiple osteochondroma indicates that non-allelic homologous recombination between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring. (PMID:21703028)
• Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas. (PMID:22040554)
• analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients (PMID:22820392)
• A meta analysis indicates variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes. (PMID:23052945)
• 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis. (PMID:23262345)
• we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel. (PMID:23439489)
• No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease. (PMID:23450490)
• Novel and recurrent mutations occur in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. (PMID:23629877)
• This study demonstrated no association of rs1113132, rs3740878 and rs11037909 EXT2 variants with type 2 diabetes mellitus. (PMID:23871501)
• these findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of multiple osteochondromas in Chinese patients. (PMID:24120389)
• EXT1 and EXT2 heterozygous mutations in 18 (54.6 %) and ten (30.3 %) probands respectively, which represents a total of 28 (84.9 %) index cases. (PMID:24532482)
• The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2. (PMID:24728384)
• EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population. (PMID:25207843)
• EXT2 mutation is associated with multiple osteochondromatosis. (PMID:25230886)
• The second exon of EXT2. A c.244delG mutation is associated with hereditary multiple exostosis. (PMID:25449079)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ext2	ENSDARG00000056648
mus_musculus	Ext2	ENSMUSG00000027198
rattus_norvegicus	Ext2	ENSRNOG00000008944
drosophila_melanogaster	sotv	FBGN0029175

Paralogs (4): EXTL3 (ENSG00000012232), EXTL1 (ENSG00000158008), EXTL2 (ENSG00000162694), EXT1 (ENSG00000182197)

Protein

Protein identifiers

Exostosin-2 — Q93063 (reviewed: Q93063)

Alternative names: Exostosin glycosyltransferase 2, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Heparan sulfate co-polymerase subunit EXT1, Multiple exostoses protein 2

All UniProt accessions (8): A0A804HHX4, A0A804HIU8, A0A804HJW9, A0A804HKG2, A0A804HKG8, A0A804HL74, A0A804HLF7, Q93063

UniProt curated annotations — full annotation on UniProt →

Function. Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signaling.

Subunit / interactions. Part of the heparan sulfate polymerase, a dimeric complex composed of EXT1 and EXT2. Could also form homooligomeric complexes. Interacts with NDST1. Interacts with GALNT5.

Subcellular location. Golgi apparatus membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum membrane. Secreted.

Tissue specificity. Widely expressed.

Post-translational modifications. N-glycosylated at Asn-637. A soluble form is generated by proteolytic processing.

Disease relevance. Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. The disease is caused by variants affecting the gene represented in this entry. Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) [MIM:616682] An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 47 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q93063-1	1	yes
Q93063-2	2
Q93063-3	3

RefSeq proteins (5): NP_000392, NP_001171554, NP_001376557, NP_001376559, NP_997005* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004263	Exostosin	Family
IPR015338	GT64_dom	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR040911	Exostosin_GT47	Domain

Pfam: PF03016, PF09258

Enzyme classification (BRENDA):

• EC 2.4.1.224 — glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase (BRENDA: 10 organisms, 19 substrates, 0 inhibitors, 8 Km, 0 kcat entries)
• EC 2.4.1.225 — N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase (BRENDA: 9 organisms, 7 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-D-GLUCOSAMINE	0.094–1.2	4
(MANNOSE)9-N-ACETYL-D-GLUCOSAMINE	0.65	1
[D-GLUCURONIC ACID-N-ACETYL-GLUCOSAMINE]14 -D-GL	0.006	1
[D-GLUCURONIC ACID-N-ACETYL-GLUCOSAMINE]4 -D-GLU	0.06	1

Catalyzed reactions (Rhea), 1 shown:

• 3-O-{(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP + H(+) (RHEA:16213)

UniProt features (120 total): strand 28, helix 25, binding site 21, sequence variant 11, mutagenesis site 10, turn 9, disulfide bond 5, sequence conflict 3, topological domain 2, glycosylation site 2, splice variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7SCK	ELECTRON MICROSCOPY	2.8
7ZAY	ELECTRON MICROSCOPY	2.8
7UQY	ELECTRON MICROSCOPY	3
7SCH	ELECTRON MICROSCOPY	3.1
7UQX	ELECTRON MICROSCOPY	3.3
7SCJ	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q93063-F1	87.59	0.67

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 (21): 517; 522; 538; 538; 539; 539; 540; 540; 582; 584; 627; 628 …

Disulfide bonds (5): 85–90, 96–151, 286–300, 318–339, 626–676

Glycosylation sites (2): 288, 637

Mutagenesis-validated functional residues (10):

Position	Phenotype
266	no effect on n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity.
308	increased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. decreased glucuronosyl-n-acetylgluc
325	increased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg
328	no effect on n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acet
538	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. loss of glucuronosyl-n-acetylglucos
538	decreased glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity; when associat
540	increased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. decreased glucuronosyl-n-acetylgluc
540	decreased glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity; when associat
569	increased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. loss of glucuronosyl-n-acetylglucos
585	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. decreased glucuronosyl-n-acetylgluc

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2022928	HS-GAG biosynthesis
R-HSA-3656237	Defective EXT2 causes exostoses 2
R-HSA-3656253	Defective EXT1 causes exostoses 1, TRPS2 and CHDS

MSigDB gene sets: 453 (showing top): GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_SULFATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, CCANNAGRKGGC_UNKNOWN

GO Biological Process (19): polysaccharide biosynthetic process (GO:0000271), ossification (GO:0001503), mesoderm formation (GO:0001707), chondrocyte differentiation (GO:0002062), glycosaminoglycan biosynthetic process (GO:0006024), protein N-linked glycosylation (GO:0006487), regulation of blood pressure (GO:0008217), gene expression (GO:0010467), heparan sulfate proteoglycan biosynthetic process (GO:0015012), heparin proteoglycan biosynthetic process (GO:0030210), fluid transport (GO:0042044), vasodilation (GO:0042311), cellular response to fibroblast growth factor stimulus (GO:0044344), multicellular organismal-level water homeostasis (GO:0050891), sulfation (GO:0051923), sodium ion homeostasis (GO:0055078), heart contraction (GO:0060047), endochondral bone morphogenesis (GO:0060350), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (10): glucuronosyltransferase activity (GO:0015020), glycosyltransferase activity (GO:0016757), heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508), N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509), protein binding (GO:0005515), acetylglucosaminyltransferase activity (GO:0008375), transferase activity (GO:0016740)

GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020), UDP-N-acetylglucosamine transferase complex (GO:0043541), extracellular exosome (GO:0070062), catalytic complex (GO:1902494), extracellular region (GO:0005576), endoplasmic reticulum membrane (GO:0005789)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Diseases associated with glycosaminoglycan metabolism	2
Heparan sulfate/heparin (HS-GAG) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macromolecule biosynthetic process	2
blood circulation	2
protein O-linked glycosylation via xylose	2
UDP-glycosyltransferase activity	2
hexosyltransferase activity	2
acetylglucosaminyltransferase activity	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
polysaccharide metabolic process	1
carbohydrate biosynthetic process	1
multicellular organismal process	1
formation of primary germ layer	1
mesoderm morphogenesis	1
cell differentiation	1
cartilage development	1
aminoglycan biosynthetic process	1
glycosaminoglycan metabolic process	1
glycoprotein biosynthetic process	1
regulation of biological quality	1
proteoglycan biosynthetic process	1
heparan sulfate proteoglycan metabolic process	1
heparin proteoglycan metabolic process	1
transport	1
blood vessel diameter maintenance	1
cellular response to growth factor stimulus	1
response to fibroblast growth factor	1
regulation of body fluid levels	1
multicellular organismal-level chemical homeostasis	1
sulfur compound metabolic process	1
monoatomic cation homeostasis	1
inorganic ion homeostasis	1
heart process	1
bone morphogenesis	1
transferase activity	1
cation binding	1
protein dimerization activity	1
glucuronosyltransferase activity	1
binding	1

Protein interactions and networks

STRING

1044 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXT2	EXT1	Q16394	986
EXT2	NDST1	P52848	941
EXT2	ALX4	Q9H161	912
EXT2	HHEX	Q03014	784
EXT2	HS2ST1	Q7LGA3	774
EXT2	SLC30A8	Q8IWU4	768
EXT2	POLR1F	Q3B726	748
EXT2	NDST2	P52849	742
EXT2	DUSP16	Q9BY84	677
EXT2	SLC35B2	Q8TB61	670
EXT2	B4GALT7	Q9UBV7	668
EXT2	TRAP1	Q12931	663
EXT2	K7EP71	K7EP71	663
EXT2	KIF11	P52732	658
EXT2	B3GAT3	O94766	657

IntAct

88 interactions, top by confidence:

A	B	Type	Score
PIK3CA	PIK3R2	psi-mi:“MI:0914”(association)	0.900
EXT1	EXT2	psi-mi:“MI:2364”(proximity)	0.890
EXT1	EXT2	psi-mi:“MI:0407”(direct interaction)	0.890
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
EXT2	SLC22A2	psi-mi:“MI:0915”(physical association)	0.550
GSKIP	EXT2	psi-mi:“MI:0915”(physical association)	0.370
EXT2	ANXA7	psi-mi:“MI:0915”(physical association)	0.370
CDKN1A	EXT2	psi-mi:“MI:0915”(physical association)	0.370
PFDN1	EXT2	psi-mi:“MI:0915”(physical association)	0.370
EXT2	SMN1	psi-mi:“MI:0915”(physical association)	0.370
TK1	EXT2	psi-mi:“MI:0915”(physical association)	0.370
M2	IPO5	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
TMEM106A	QSOX1	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
EXT2	EXTL3	psi-mi:“MI:0914”(association)	0.350
TMEM106A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (110): EXT2 (Affinity Capture-MS), INVS (Affinity Capture-MS), TTC19 (Affinity Capture-MS), RBFA (Affinity Capture-MS), EXT1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), USP30 (Affinity Capture-MS), NOP9 (Affinity Capture-MS), HLA-DPB1 (Affinity Capture-MS), STK16 (Affinity Capture-MS), SNCG (Affinity Capture-MS), HYOU1 (Affinity Capture-MS), CNTF (Affinity Capture-MS)

ESM2 similar proteins: A4IID1, A5D7I4, A5PK45, A9X1C8, G5E897, O12971, O60568, O77783, O95803, P52848, P52849, P52850, P70428, P97464, Q02353, Q16394, Q3UHN9, Q5F407, Q5IGR6, Q5IGR7, Q5IGR8, Q5M854, Q5R6K5, Q5RBC3, Q5U367, Q5U4X8, Q6EV56, Q6GMK0, Q6GQI7, Q6GQK9, Q6IS24, Q6UW63, Q6ZQ11, Q7TT15, Q7Z4H8, Q812F8, Q86X52, Q8K297, Q8NBJ5, Q8VHI3

Diamond homologs: A2Y6Z7, O01705, O43909, O77783, P70428, Q53WK1, Q5IGR8, Q5RBC3, Q84WB7, Q93063, Q9WVL6, Q9XZ08, Q9Y169, A5D7I4, A9X1C8, O01704, P97464, Q16394, Q33AH8, Q5IGR6, Q5IGR7, Q92935, Q9C975, Q9ES89, Q9JK82, Q9JKV7, Q9LY62, Q9SSE8, Q9UBQ6, Q9V730, A9RGD8, Q10SX7, Q3E9A4, Q3EAR7, Q6H4N0, Q6NMM8, Q7XLG3, Q8S1X7, Q8S1X8, Q8S1X9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EXT2	“form complex”	EXT1/EXT2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

1033 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	196
Likely pathogenic	41
Uncertain significance	404
Likely benign	247
Benign	55

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069929	NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)	Pathogenic
1073638	NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)	Pathogenic
1073639	NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)	Pathogenic
1074447	NM_207122.2(EXT2):c.64_68del (p.His22fs)	Pathogenic
1076808	NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)	Pathogenic
1076816	NM_207122.2(EXT2):c.783_784del (p.His262fs)	Pathogenic
1175790	NM_207122.2(EXT2):c.484C>T (p.Gln162Ter)	Pathogenic
1211965	NM_207122.2(EXT2):c.536+1G>A	Pathogenic
1224433	NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)	Pathogenic
1251963	NM_207122.2(EXT2):c.728del (p.Pro243fs)	Pathogenic
1351327	NM_207122.2(EXT2):c.516del (p.Ala173fs)	Pathogenic
1352684	NM_207122.2(EXT2):c.680A>G (p.Asp227Gly)	Pathogenic
1376872	NM_207122.2(EXT2):c.1080-2A>G	Pathogenic
1378644	NM_207122.2(EXT2):c.1080-1G>A	Pathogenic
1382216	NM_207122.2(EXT2):c.729del (p.Glu244fs)	Pathogenic
1386232	NM_207122.2(EXT2):c.398_402del (p.Leu133fs)	Pathogenic
1392678	NM_207122.2(EXT2):c.537-4_561del	Pathogenic
1405824	NM_207122.2(EXT2):c.620_626+158del	Pathogenic
1407563	NM_207122.2(EXT2):c.705_706del (p.Leu236fs)	Pathogenic
1409142	NM_207122.2(EXT2):c.779del (p.Gly260fs)	Pathogenic
1414023	NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter)	Pathogenic
1417949	NM_207122.2(EXT2):c.1013del (p.Gly338fs)	Pathogenic
1427412	NM_207122.2(EXT2):c.750del (p.Gln251fs)	Pathogenic
1432441	NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs)	Pathogenic
1451350	NM_207122.2(EXT2):c.939+1del	Pathogenic
1454141	NM_207122.2(EXT2):c.89del (p.Phe30fs)	Pathogenic
1455305	NM_207122.2(EXT2):c.1201del (p.Gln401fs)	Pathogenic
1456520	NM_207122.2(EXT2):c.1080-1G>T	Pathogenic
1456787	NM_207122.2(EXT2):c.1080-2del	Pathogenic
1457792	NM_207122.2(EXT2):c.244dup (p.Asp82fs)	Pathogenic

SpliceAI

2264 predictions. Top by Δscore:

Variant	Effect	Δscore
11:44104768:G:GT	donor_gain	1.0000
11:44107673:T:A	acceptor_gain	1.0000
11:44114179:TTTCA:T	acceptor_loss	1.0000
11:44114180:TTCA:T	acceptor_loss	1.0000
11:44114181:TCA:T	acceptor_loss	1.0000
11:44114182:CAGG:C	acceptor_loss	1.0000
11:44114183:A:C	acceptor_loss	1.0000
11:44114184:G:GT	acceptor_loss	1.0000
11:44114300:GG:G	donor_gain	1.0000
11:44114301:GG:G	donor_gain	1.0000
11:44124787:A:AG	acceptor_gain	1.0000
11:44124788:G:GG	acceptor_gain	1.0000
11:44126811:TGCAG:T	acceptor_loss	1.0000
11:44126812:GCAGG:G	acceptor_loss	1.0000
11:44126813:CA:C	acceptor_loss	1.0000
11:44126813:CAGG:C	acceptor_gain	1.0000
11:44126814:AG:A	acceptor_gain	1.0000
11:44126814:AGGA:A	acceptor_gain	1.0000
11:44126814:AGGAG:A	acceptor_gain	1.0000
11:44126815:GG:G	acceptor_gain	1.0000
11:44126815:GGAG:G	acceptor_gain	1.0000
11:44126815:GGAGG:G	acceptor_gain	1.0000
11:44126951:AAGAG:A	donor_loss	1.0000
11:44126952:AGAGG:A	donor_loss	1.0000
11:44126953:GAG:G	donor_gain	1.0000
11:44126953:GAGG:G	donor_loss	1.0000
11:44126954:AGG:A	donor_loss	1.0000
11:44126957:T:G	donor_loss	1.0000
11:44126961:T:TA	donor_gain	1.0000
11:44126962:A:AA	donor_gain	1.0000

AlphaMissense

4723 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:44107998:T:A	C96S	1.000
11:44107999:G:C	C96S	1.000
11:44108163:T:C	C151R	1.000
11:44108164:G:A	C151Y	1.000
11:44108165:T:G	C151W	1.000
11:44171687:G:C	R417P	1.000
11:44197890:T:C	F456S	1.000
11:44197896:C:A	A458D	1.000
11:44197905:T:C	L461P	1.000
11:44197917:G:C	R465P	1.000
11:44197983:T:A	V487D	1.000
11:44197986:T:A	V488D	1.000
11:44197988:T:A	W489R	1.000
11:44197988:T:C	W489R	1.000
11:44197990:G:C	W489C	1.000
11:44197990:G:T	W489C	1.000
11:44197993:T:A	N490K	1.000
11:44197993:T:G	N490K	1.000
11:44206853:T:C	L519S	1.000
11:44206855:A:C	S520R	1.000
11:44206857:T:A	S520R	1.000
11:44206857:T:G	S520R	1.000
11:44206861:C:A	R522S	1.000
11:44206864:T:C	F523L	1.000
11:44206865:T:C	F523S	1.000
11:44206866:C:A	F523L	1.000
11:44206866:C:G	F523L	1.000
11:44206901:T:C	L535P	1.000
11:44206909:G:C	D538H	1.000
11:44206910:A:C	D538A	1.000

dbSNP variants (sampled 300 via entrez): RS1000002649 (11:44146601 T>C), RS1000009999 (11:44192850 G>C), RS1000023977 (11:44160639 A>G), RS1000035219 (11:44146903 T>A), RS1000038363 (11:44238900 A>G,T), RS1000040374 (11:44106264 G>C), RS1000051872 (11:44101584 C>A,G,T), RS1000096303 (11:44179535 G>A), RS1000103115 (11:44139899 G>A), RS1000118498 (11:44160295 T>C), RS1000126742 (11:44251951 G>A,C), RS1000146507 (11:44113198 G>T), RS1000153488 (11:44126064 T>C), RS1000170676 (11:44226430 G>A), RS1000190878 (11:44219825 C>G)

Disease associations

OMIM: gene MIM:608210 | disease phenotypes: MIM:133701, MIM:133700, MIM:616682, MIM:167000

GenCC curated gene-disease

Disease	Classification	Inheritance
exostoses, multiple, type 2	Definitive	Autosomal dominant
seizures-scoliosis-macrocephaly syndrome	Strong	Autosomal recessive
hereditary multiple osteochondromas	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
exostoses, multiple, type 2	Definitive	AD

Mondo (7): exostoses, multiple, type 2 (MONDO:0007586), hereditary multiple osteochondromas (MONDO:0005508), seizures-scoliosis-macrocephaly syndrome (MONDO:0014731), exostoses, multiple, type 1 (MONDO:0007585), hepatoblastoma (MONDO:0018666), ovarian cancer (MONDO:0008170), hereditary neoplastic syndrome (MONDO:0015356)

Orphanet (5): Multiple osteochondromas (Orphanet:321), Seizures-scoliosis-macrocephaly syndrome (Orphanet:466926), Hepatoblastoma (Orphanet:449), Rare ovarian cancer (Orphanet:213500), Inherited cancer-predisposing syndrome (Orphanet:140162)

HPO phenotypes

142 total (30 of 142 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000016	Urinary retention
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000077	Abnormality of the kidney
HP:0000093	Proteinuria
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000356	Abnormality of the outer ear
HP:0000384	Preauricular skin tag
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000437	Depressed nasal tip
HP:0000455	Broad nasal tip
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000717	Autism
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000750	Delayed speech and language development

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST008163_130	Height	8.000000e-06
GCST010002_236	Refractive error	2.000000e-24
GCST010396_281	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D005097	Exostoses, Multiple Hereditary	C04.557.450.565.575.610.615.325; C04.700.330; C05.116.099.708.670.615.325; C05.116.540.310.500; C16.320.700.330
D018197	Hepatoblastoma	C04.557.435.380
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	5
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	3
Air Pollutants	decreases expression, increases abundance	2
bisphenol F	increases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
perfluorooctanoic acid	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Cycloheximide	decreases expression, decreases reaction	1
Cytarabine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Selenium	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tetrachlorodibenzodioxin	decreases reaction, decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C768	ESe026-A	Embryonic stem cell	Male
CVCL_SM62	HAP1 EXT2 (-) 1	Cancer cell line	Male
CVCL_SM63	HAP1 EXT2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
NCT01932125	PHASE4	COMPLETED	An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer
NCT01953107	PHASE4	COMPLETED	Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates.
NCT02035345	PHASE4	TERMINATED	Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment
NCT02243059	PHASE4	WITHDRAWN	Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer
NCT03164980	PHASE4	TERMINATED	QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03543462	PHASE4	COMPLETED	Diaphragmatic Resection And Gynecological Ovarian Neoplasm
NCT03752216	PHASE4	COMPLETED	NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib.
NCT03858166	PHASE4	TERMINATED	Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer
NCT04024254	PHASE4	COMPLETED	A Study of Serum Folate Levels in Patients Treated With Olaparib
NCT04330040	PHASE4	COMPLETED	Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
NCT04352439	PHASE4	COMPLETED	Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy
NCT05187208	PHASE4	UNKNOWN	PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer
NCT05606692	PHASE4	RECRUITING	Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics)
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06412120	PHASE4	RECRUITING	Study Evaluating Safety, Tolerability, and Metabolism of Niraparib
NCT06871787	PHASE4	NOT_YET_RECRUITING	Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery
NCT06887933	PHASE4	NOT_YET_RECRUITING	A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer
NCT07469202	PHASE4	NOT_YET_RECRUITING	CYTALUX Dose Extension Study
NCT03017326	PHASE3	ACTIVE_NOT_RECRUITING	Paediatric Hepatic International Tumour Trial
NCT03533582	PHASE3	ACTIVE_NOT_RECRUITING	Cisplatin and Combination Chemotherapy in Treating Children and Young Adults With Hepatoblastoma or Liver Cancer After Surgery
NCT04478292	PHASE3	RECRUITING	A Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy
NCT00001806	PHASE3	COMPLETED	Methods in Education for Breast Cancer Genetics
NCT00002477	PHASE3	UNKNOWN	Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer
NCT00002568	PHASE3	COMPLETED	Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002717	PHASE3	COMPLETED	Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00002819	PHASE3	TERMINATED	Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer
NCT00002894	PHASE3	COMPLETED	Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer
NCT00002895	PHASE3	COMPLETED	Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer
NCT00003120	PHASE3	COMPLETED	S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission