GNE

Summary

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase, HGNC:23657) is a protein-coding gene on chromosome 9p13.3, encoding Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (Q9Y223). Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of s….

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.

Source: NCBI Gene 10020 — RefSeq curated summary.

At a glance

• Gene–disease (curated): macrothrombocytopenia, isolated (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,253 total — 86 pathogenic, 105 likely-pathogenic
• Phenotypes (HPO): 105
• Druggable target: yes
• MANE Select transcript: NM_005476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23657
Approved symbol	GNE
Name	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Uae1
Ensembl gene	ENSG00000159921
Ensembl biotype	protein_coding
OMIM	603824
Entrez	10020

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000396594, ENST00000447283, ENST00000539208, ENST00000543356, ENST00000642385, ENST00000644762, ENST00000968451

RefSeq mRNA: 7 — MANE Select: NM_005476 NM_001128227, NM_001190383, NM_001190384, NM_001190388, NM_001374797, NM_001374798, NM_005476

CCDS: CCDS47965, CCDS55308, CCDS55309, CCDS55310, CCDS6602

Canonical transcript exons

ENST00000642385 — 12 exons

Exon	Start	End
ENSE00001048444	36229021	36229108
ENSE00001048449	36227248	36227458
ENSE00001048451	36233920	36234132
ENSE00001048452	36223373	36223502
ENSE00001048454	36236832	36236984
ENSE00001048456	36219838	36220020
ENSE00001048458	36218183	36218299
ENSE00001048460	36222777	36222998
ENSE00003658747	36246031	36246482
ENSE00003679197	36249192	36249397
ENSE00003822280	36258321	36258448
ENSE00003903332	36214441	36217600

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 95.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8502 / max 184.9992, expressed in 1763 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100675	11.4277	1744
100679	0.9115	155
100674	0.5111	297

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	95.87	gold quality
colonic mucosa	UBERON:0000317	95.12	gold quality
nasal cavity epithelium	UBERON:0005384	94.69	gold quality
rectum	UBERON:0001052	94.31	gold quality
liver	UBERON:0002107	94.24	gold quality
trachea	UBERON:0003126	94.17	gold quality
palpebral conjunctiva	UBERON:0001812	93.16	gold quality
islet of Langerhans	UBERON:0000006	92.12	gold quality
right lobe of liver	UBERON:0001114	91.96	gold quality
nasal cavity mucosa	UBERON:0001826	91.21	gold quality
cartilage tissue	UBERON:0002418	90.79	gold quality
placenta	UBERON:0001987	89.07	gold quality
renal medulla	UBERON:0000362	88.91	gold quality
bronchial epithelial cell	CL:0002328	88.89	gold quality
amniotic fluid	UBERON:0000173	88.22	gold quality
epithelium of nasopharynx	UBERON:0001951	87.97	gold quality
bronchus	UBERON:0002185	87.86	gold quality
epithelium of bronchus	UBERON:0002031	87.73	gold quality
esophagus squamous epithelium	UBERON:0006920	87.06	gold quality
pharyngeal mucosa	UBERON:0000355	86.88	gold quality
cerebellar vermis	UBERON:0004720	86.66	gold quality
transverse colon	UBERON:0001157	86.23	gold quality
stromal cell of endometrium	CL:0002255	85.99	gold quality
mucosa of transverse colon	UBERON:0004991	85.58	gold quality
epithelium of esophagus	UBERON:0001976	85.46	gold quality
colonic epithelium	UBERON:0000397	85.37	gold quality
large intestine	UBERON:0000059	85.32	gold quality
tibia	UBERON:0000979	85.32	gold quality
calcaneal tendon	UBERON:0003701	85.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting GNE, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 40)

• Suggested as a candidate gene for a dominant syndrome that consists of inclusion body myopathy, Paget disease of bone, and dementia. (PMID:11749051)
• Two siblings heterozygous for the mutations A460V and V572L. Both sibs had Nonaka myopathy (OMIM 605820). (PMID:11916006)
• Three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene have been detected in Japanese patients with distal myopathy with rimmed vacuoles (DMRV). (PMID:12177386)
• A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees (PMID:12325084)
• Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (PMID:12497639)
• Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. (PMID:12921793)
• UDP-GlcNAc 2-epimerase/ManNAc kinase expression is regulated on the transcriptional level by DNA methylation (PMID:12927803)
• identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid (PMID:14707127)
• These results indicate that although mutations in each of the two GNE domains result in an impaired enzymatic activity and the same HIBM phenotype, they do not equally affect sialylation of muscle cells. (PMID:15670773)
• A regulatory role for GNE shifting between the nuclear and the Golgi compartment is proposed. Further insight into GNE regulation may promote the understanding of hereditary inclusion body myopathy pathogenesis. (PMID:15748884)
• This report two unrelated Tunisian families with clinical and pathological features of AR HIBM. One distinct homozygous GNE missense mutation, M712T and L379H. (PMID:15833430)
• The cell-free system was validated for GNE activity, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W) affected not only that domain’s enzyme activity, but also the activity of the other domain. (PMID:15987957)
• Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with distal myopathy with rimmed vacuoles (PMID:16810679)
• UDP-GlcNAc 2-epimerase/ManNAc 6-kinase has roles in modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation (PMID:16847058)
• Two novel isoforms of human GNE, namely GNE2 and GNE3, which possess extended and deleted N-termini, respectively, were characterized. (PMID:17597614)
• Impaired UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) enzyme function, not lack of expression, may be the key pathogenic factor in hereditary inclusion body myopathy (HIBM). (PMID:17698786)
• GNE mutation develops distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy (PMID:17704511)
• Hereditary inclusion body myopathy with a novel mutation(P511H ) in the GNE gene associated with proximal leg weakness and necrotizing myopathy. (PMID:17718674)
• interaction of GNE with alpha-actinin 1 might point to its involvement in alpha-actinin mediated processes (PMID:18560563)
• inhibition of GNE-epimerase activity by CMP-sialic acid recovered after silencing demonstrating specificity of this effect. (PMID:18653764)
• Ceramide and its metabolite-induced cell death are regulated by the amount of sialic acid on the cell surface which in turn is regulated by mRNA expression of UDP-GlcNAc2-epimerase [uridine diphosphate-N-acetylglucosamine 2-epimerase] (PMID:18698493)
• These data therefore suggest a role of GNE1 in basic supply of cells with sialic acids, whereas splice variants GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway. (PMID:18815882)
• the crystal structure of the kinase domain of GNE provides a structural basis for understanding disease-causing mutations and a model of hexameric wild type full length enzyme (PMID:19841673)
• in myonuclei seems to play some role in rimmed vacuole formation in distal myopathy with rimmed vacuoles (PMID:19845164)
• modeling of active sites of human GNE/MNK and identification of critical amino acid residues responsible for interactions with substrates. (PMID:19917666)
• Ten novel mutations were identified among nine patients, including four nonsense (p.R8X, p.W204X, p.Q436X, and p.S615X) and five missense (p.R71W, p.I142T, p.I298T, p.L556S, and p.E2G) variations spanning both the epimerase and kinase domains of GNE. (PMID:20059379)
• in 2 sibs with hereditary inclusion body myopathy,mutation analysis revealed compound heterozygous mutations in GNE gene:missense mutation (c.2086G >A; p.V696M) & novel frame shift mutation(c.1295delA; p.K432RfsX17)leading to a premature stopcodon (PMID:20175955)
• Based on our clinical experience and on the growing number of mutations reported, GNE mutations are not rare and should be ruled out in all patients presenting with a distal vacuolar myopathy, either autosomically recessive inherited or sporadic. (PMID:20300792)
• 2 Italian sisters affected with autosomal-recessive hereditary inclusion-body myopathy were compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.R246W mutation on second allele both in the epimerase domain (PMID:20346669)
• two unrelated American hereditary inclusion body myopathy type 2 patients with novel GNE mutations (PMID:21131200)
• Stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the sialic acid biosynthetic pathway, dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins. (PMID:21584309)
• The linkage scan excluded the majority of known myopathy genes, but one linkage peak included the gene GNE, in which mutations cause autosomal recessive hereditary inclusion body myopathy type 2 (HIBM2). (PMID:21708040)
• One nonsense mutation and 5 missense mutations wre identified in the GNE gene in chinese patients with distal myopathy with rimmed vacuoles. (PMID:21868336)
• Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase (PMID:21910480)
• GNE up-regulation occurred predominantly in pancreatic cancer but also in other malignancies. (PMID:22049060)
• Eighteen mutations in GNE gene are identified in Chinese distal myopathy with rimmed vacuoles patients. (PMID:22196754)
• The results of this study defined a pattern of muscle involvement that appears peculiar to GNE myopathy (PMID:22231866)
• analysis of the crystal structures of the human N-acetylmannosamine kinase (MNK) domain of UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase in complexes with ManNAc (PMID:22343627)
• The results of this study indicated that no cases showed missense mutations in the GNE. (PMID:22349865)
• Participants with homozygous mutations in the N-acetylmannosamine kinase domain have an earlier disease onset than heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase domains. (PMID:22507750)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gne	ENSDARG00000099771
mus_musculus	Gne	ENSMUSG00000028479
rattus_norvegicus	Gne	ENSRNOG00000014365

Protein

Protein identifiers

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase — Q9Y223 (reviewed: Q9Y223)

Alternative names: UDP-GlcNAc-2-epimerase/ManAc kinase

All UniProt accessions (2): Q9Y223, A0A7I2SU25

UniProt curated annotations — full annotation on UniProt →

Function. Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. By catalyzing this pivotal and rate-limiting step in sialic acid biosynthesis, this enzyme assumes a pivotal role in governing the regulation of cell surface sialylation, playing a role in embryonic angiogenesis. Sialic acids represent a category of negatively charged sugars that reside on the surface of cells as terminal components of glycoconjugates and mediate important functions in various cellular processes, including cell adhesion, signal transduction, and cellular recognition.

Subunit / interactions. Homodimer. Homotetramer. Homohexamer. The hexameric form exhibits both enzyme activities, whereas the dimeric form only catalyzes the phosphorylation of N-acyl-D-mannosamine.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.

Post-translational modifications. Phosphorylated. Phosphorylation by PKC activates the UDP-N-acetylglucosamine 2-epimerase activity.

Disease relevance. Sialuria (SIALURIA) [MIM:269921] In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Nonaka myopathy (NM) [MIM:605820] An autosomal recessive myopathy characterized by early adult onset and progressive distal muscle weakness that preferentially affects the anterior tibial muscles, usually sparing the quadriceps femoris. Some individuals may have involvement of the upper limbs or proximal muscles. Muscle biopsy reveals presence of rimmed vacuoles. The disease is caused by variants affecting the gene represented in this entry. Thrombocytopenia 12 with or without myopathy (THC12) [MIM:620757] A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC12 is an autosomal recessive form manifesting from infancy or early childhood with bleeding episodes. Clinical features include petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery. Rare patients may have thrombocytopenia without bleeding. Some affected individuals have myopathic features, usually apparent in the second or third decades of life. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The UDP-N-acetylglucosamine 2-epimerase activity, in contrast to the N-acetylmannosamine kinase activity, exhibits allosteric regulation by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac), the end product of neuraminic acid biosynthesis. Moreover, the activity is contingent upon the oligomeric state of the enzyme. The monomeric form is inactive, while the dimeric form selectively catalyzes the phosphorylation of N-acetylmannosamine. The hexameric form, on the other hand, demonstrates full proficiency in both enzyme activities. Furthermore, the UDP-N-acetylglucosamine 2-epimerase activity is increased by PKC-mediated phosphorylation.

Pathway. Amino-sugar metabolism; N-acetylneuraminate biosynthesis.

Similarity. In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family. In the C-terminal section; belongs to the ROK (NagC/XylR) family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9Y223-1	1, GNE1	yes
Q9Y223-2	2, GNE2
Q9Y223-3	3, GNE3
Q9Y223-4	4
Q9Y223-5	5

RefSeq proteins (7): NP_001121699, NP_001177312, NP_001177313, NP_001177317, NP_001361726, NP_001361727, NP_005467* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000600	ROK	Family
IPR003331	UDP_GlcNAc_Epimerase_2_dom	Domain
IPR020004	UDP-GlcNAc_Epase	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00480, PF02350

Enzyme classification (BRENDA):

• EC 2.7.1.60 — N-acylmannosamine kinase (BRENDA: 7 organisms, 31 substrates, 39 inhibitors, 21 Km, 8 kcat entries)
• EC 3.2.1.183 — UDP-N-acetylglucosamine 2-epimerase (hydrolysing) (BRENDA: 10 organisms, 5 substrates, 11 inhibitors, 10 Km, 8 kcat entries)
• EC 5.1.3.14 — UDP-N-acetylglucosamine 2-epimerase (non-hydrolysing) (BRENDA: 19 organisms, 94 substrates, 85 inhibitors, 25 Km, 12 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-D-GLUCOSAMINE	0.011–20.9	18
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	0.0005–11	10
N-ACETYL-D-MANNOSAMINE	0.093–1.34	8
ATP	0.73–4.4	7
UDP-N-ACETYL-ALPHA-D-MANNOSAMINE	0.22–5.2	4
N-ACETYL-D-GLUCOSAMINE	0.049–0.26	3
D-GLUCOSE	15	1
N-ACYL-D-MANNOSAMINE	0.127	1
N-GLYCOLYLMANNOSAMINE	1.2	1
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	3.6	1
UDP-N-ACETYLGLUCOSAMINE	0.63	1

Catalyzed reactions (Rhea), 2 shown:

• an N-acyl-D-mannosamine + ATP = an N-acyl-D-mannosamine 6-phosphate + ADP + H(+) (RHEA:23832)
• UDP-N-acetyl-alpha-D-glucosamine + H2O = aldehydo-N-acetyl-D-mannosamine + UDP + H(+) (RHEA:30683)

UniProt features (165 total): sequence variant 49, binding site 39, helix 31, strand 26, sequence conflict 6, splice variant 5, turn 4, region of interest 2, chain 1, active site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2YHW	X-RAY DIFFRACTION	1.64
2YHY	X-RAY DIFFRACTION	1.82
2YI1	X-RAY DIFFRACTION	2.15
4ZHT	X-RAY DIFFRACTION	2.69
3EO3	X-RAY DIFFRACTION	2.84

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y223-F1	92.96	0.88

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): 517

Ligand- & substrate-binding residues (39): 271; 280; 281; 282; 301; 302; 307; 321; 413; 416; 417; 418 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
517	loss of n-acylmannosamine kinase activity. decreased affinity for n-acyl-d-mannosamine. no effect on structure.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-4085001	Sialic acid metabolism
R-HSA-4085011	Defective GNE causes sialuria, NK and IBM2

MSigDB gene sets: 418 (showing top): GCM_ZNF198, GOBP_CARBOHYDRATE_PHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, UEDA_PERIFERAL_CLOCK, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, chr9p13

GO Biological Process (7): N-acetylglucosamine biosynthetic process (GO:0006045), UDP-N-acetylglucosamine metabolic process (GO:0006047), CMP-N-acetylneuraminate biosynthetic process (GO:0006055), N-acetylneuraminate biosynthetic process (GO:0046380), N-acetylneuraminate metabolic process (GO:0006054), carbohydrate phosphorylation (GO:0046835), obsolete glycosylation (GO:0070085)

GO Molecular Function (11): hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), ATP binding (GO:0005524), UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761), N-acylmannosamine kinase activity (GO:0009384), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), hydrolase activity (GO:0016787)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
Diseases associated with glycosylation precursor biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
amino sugar metabolic process	2
catalytic activity	2
cellular anatomical structure	2
N-acetylglucosamine metabolic process	1
glucosamine-containing compound biosynthetic process	1
nucleotide-sugar metabolic process	1
nucleotide-sugar biosynthetic process	1
CMP-N-acetylneuraminate metabolic process	1
N-acetylneuraminate metabolic process	1
amino sugar biosynthetic process	1
carboxylic acid biosynthetic process	1
carboxylic acid metabolic process	1
carbohydrate metabolic process	1
phosphorylation	1
hydrolase activity, acting on glycosyl bonds	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
phosphotransferase activity, alcohol group as acceptor	1
carbohydrate kinase activity	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2022 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNE	RNF38	Q9H0F5	952
GNE	CRMP1	Q14194	898
GNE	NANS	Q9NR45	880
GNE	SLC17A5	Q9NRA2	848
GNE	PODXL	O00592	769
GNE	SLC35A1	P78382	761
GNE	ATP7A	Q04656	757
GNE	GALE	Q14376	736
GNE	MYH2	Q9UKX2	727
GNE	MYOT	Q9UBF9	668
GNE	UAP1	Q16222	657
GNE	ZBTB16	Q05516	646
GNE	CMAS	Q8NFW8	621
GNE	ACTN1	P12814	611
GNE	NAGK	Q9UJ70	579

IntAct

59 interactions, top by confidence:

A	B	Type	Score
NOTCH2NLA	GNE	psi-mi:“MI:0915”(physical association)	0.670
GNE	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
GAS2L2	MAPRE1	psi-mi:“MI:0914”(association)	0.670
GNE	ACTN1	psi-mi:“MI:0407”(direct interaction)	0.590
GNE	ACTN1	psi-mi:“MI:0915”(physical association)	0.590
	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	SPRY2	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
KRT31	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.560
GTPBP3	GNE	psi-mi:“MI:0915”(physical association)	0.560
KRTAP4-12	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
SPRY2	GNE	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRT31	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	GNE	psi-mi:“MI:0915”(physical association)	0.560
GNE	GTPBP3	psi-mi:“MI:0915”(physical association)	0.560
GNE	KRTAP4-12	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (129): GNE (Two-hybrid), GNE (Two-hybrid), GNE (Two-hybrid), SPRY2 (Two-hybrid), ADAMTSL4 (Two-hybrid), KRTAP4-12 (Two-hybrid), KRTAP9-2 (Two-hybrid), GTPBP3 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), GNE (Affinity Capture-MS)

ESM2 similar proteins: A0REB4, A3N2D3, A4IPB3, A5YBJ5, A6M229, A7ZAH9, B2V4J8, B5XII4, B8DCT6, C1EVJ1, C1KZA1, C3LHY4, C3PAZ0, O34768, O35826, O82616, P0DC12, P0DC13, P37829, P42414, P50845, P77493, Q1J4Q3, Q42896, Q4V1F7, Q55480, Q5KYR3, Q5WKY9, Q5X9Y3, Q63B75, Q65D02, Q65EY9, Q6HIK4, Q6LK43, Q723S9, Q7TQ49, Q7XJ81, Q81QB7, Q898F0, Q8Y9Y2

Diamond homologs: A0KYQ6, A1AA13, A1JL75, A5F7C0, A7FH52, A7ZKM3, A7ZZ76, A8AHU6, A9MG95, A9N4M6, B1IUE6, B1JI57, B1LI25, B1XA29, B2K721, B2VDQ9, B4T3Q8, B4TFJ6, B4TTJ1, B5BAF5, B5F8D3, B5FEF2, B5FK86, B5QXB6, B5RB82, B5YWJ2, B6EKQ4, B6I9J7, B7LG53, B7LPQ4, B7LX53, B7MJA6, B7MTP9, B7NAZ7, B7NKG0, B7UPY3, B7VNU4, C0Q772, C3LNA1, C4ZS59

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PKC	“up-regulates activity”	GNE	phosphorylation
GNE	“down-regulates quantity”	UDP-N-acetyl-alpha-D-glucosamine	“chemical modification”
GNE	“up-regulates quantity”	“N-acyl-D-mannosamine 6-phosphate(2-)”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
Keratinization	7	15.0×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

1253 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	86
Likely pathogenic	105
Uncertain significance	471
Likely benign	393
Benign	47

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068026	NM_005476.7(GNE):c.2005_2011del (p.Gly669fs)	Pathogenic
1069453	NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer)	Pathogenic
1072426	NM_005476.7(GNE):c.1816+5G>A	Pathogenic
1075047	NM_005476.7(GNE):c.221_222del (p.Thr74fs)	Pathogenic
1323024	NM_005476.7(GNE):c.1220dup (p.Ser408fs)	Pathogenic
1323025	NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)	Pathogenic
1371995	NM_005476.7(GNE):c.454_616+70delinsTAG	Pathogenic
1377078	NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)	Pathogenic
1412885	NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer)	Pathogenic
1413067	NM_005476.7(GNE):c.997dup (p.His333fs)	Pathogenic
1428290	NM_005476.7(GNE):c.952_953del (p.Leu318fs)	Pathogenic
1448509	NM_005476.7(GNE):c.174_177dup (p.Met60fs)	Pathogenic
1452395	NM_005476.7(GNE):c.1501_1529del (p.Arg501fs)	Pathogenic
1453995	NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)	Pathogenic
1458582	NC_000009.11:g.(?36227235)(36227465_?)del	Pathogenic
162151	NM_005476.7(GNE):c.711G>A (p.Leu237=)	Pathogenic
188882	NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	Pathogenic
188916	NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	Pathogenic
2014927	NM_005476.7(GNE):c.798del (p.Lys267fs)	Pathogenic
2018618	NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)	Pathogenic
2021712	NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)	Pathogenic
2108109	NM_005476.7(GNE):c.2135del (p.Met712fs)	Pathogenic
2121685	NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)	Pathogenic
2128738	NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)	Pathogenic
2195084	NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)	Pathogenic
2423766	NC_000009.11:g.(?36246018)(36246489_?)del	Pathogenic
2423767	NC_000009.11:g.(?36246008)(36276941_?)del	Pathogenic
2423768	NC_000009.11:g.(?36227225)(36276941_?)del	Pathogenic
2436626	NM_005476.7(GNE):c.-42-1G>T	Pathogenic
2436630	NM_005476.7(GNE):c.831_833delinsATCCCAA (p.Ala278fs)	Pathogenic

SpliceAI

1816 predictions. Top by Δscore:

Variant	Effect	Δscore
9:36217597:CCAG:C	acceptor_gain	1.0000
9:36217598:CAG:C	acceptor_gain	1.0000
9:36217598:CAGC:C	acceptor_gain	1.0000
9:36217600:GCT:G	acceptor_loss	1.0000
9:36217601:C:CC	acceptor_gain	1.0000
9:36217601:CTATA:C	acceptor_loss	1.0000
9:36218298:CT:C	acceptor_gain	1.0000
9:36218300:C:CC	acceptor_gain	1.0000
9:36218305:C:CT	acceptor_gain	1.0000
9:36218309:G:GC	acceptor_gain	1.0000
9:36223372:CCTA:C	donor_gain	1.0000
9:36223375:A:AC	donor_gain	1.0000
9:36223376:C:CC	donor_gain	1.0000
9:36223376:CT:C	donor_gain	1.0000
9:36223378:C:CA	donor_gain	1.0000
9:36223501:CC:C	acceptor_gain	1.0000
9:36223502:CC:C	acceptor_gain	1.0000
9:36223502:CCTA:C	acceptor_loss	1.0000
9:36223503:CTAAA:C	acceptor_loss	1.0000
9:36223504:T:A	acceptor_loss	1.0000
9:36227242:TTTTA:T	donor_loss	1.0000
9:36227243:TTTA:T	donor_loss	1.0000
9:36227244:TTACC:T	donor_loss	1.0000
9:36227245:TA:T	donor_loss	1.0000
9:36227247:CCTT:C	donor_gain	1.0000
9:36227454:TTGAA:T	acceptor_gain	1.0000
9:36227455:TGAA:T	acceptor_gain	1.0000
9:36227456:GAA:G	acceptor_gain	1.0000
9:36227457:AA:A	acceptor_gain	1.0000
9:36227458:AC:A	acceptor_gain	1.0000

AlphaMissense

4763 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:36233927:T:A	R325S	1.000
9:36233927:T:G	R325S	1.000
9:36233928:C:G	R325T	1.000
9:36233996:G:C	S302R	1.000
9:36233996:G:T	S302R	1.000
9:36233998:T:G	S302R	1.000
9:36234002:G:C	N300K	1.000
9:36234002:G:T	N300K	1.000
9:36234006:C:T	G299E	1.000
9:36234007:C:A	G299W	1.000
9:36236942:T:C	H220R	1.000
9:36246144:A:G	L168P	1.000
9:36246189:A:G	L153P	1.000
9:36246202:C:G	A149P	1.000
9:36246207:C:A	R147I	1.000
9:36246207:C:G	R147T	1.000
9:36246219:T:A	D143V	1.000
9:36246220:C:G	D143H	1.000
9:36246309:C:A	R113M	1.000
9:36246312:T:A	D112V	1.000
9:36246312:T:C	D112G	1.000
9:36246312:T:G	D112A	1.000
9:36246313:C:G	D112H	1.000
9:36246378:A:G	L90P	1.000
9:36246381:C:T	G89D	1.000
9:36246382:C:G	G89R	1.000
9:36246388:A:G	S87P	1.000
9:36222927:A:G	W495R	0.999
9:36222927:A:T	W495R	0.999
9:36227270:C:G	R420P	0.999

dbSNP variants (sampled 300 via entrez): RS1000005237 (9:36255233 A>C,G), RS1000033749 (9:36255581 G>A,C), RS1000042394 (9:36230707 T>C), RS1000048314 (9:36217120 G>C,T), RS1000393245 (9:36243870 A>G,T), RS1000412711 (9:36278278 A>G), RS1000449038 (9:36234986 G>A,C), RS1000540824 (9:36273341 C>G), RS1000550083 (9:36266789 G>A,T), RS1000551297 (9:36222375 C>G,T), RS1000654782 (9:36215413 A>C), RS1000660522 (9:36271847 T>G), RS1000782184 (9:36236467 T>G), RS1000788413 (9:36273143 A>C,G), RS1000815421 (9:36236161 G>A,T)

Disease associations

OMIM: gene MIM:603824 | disease phenotypes: MIM:269921, MIM:605820, MIM:620757, MIM:147421, MIM:609500, MIM:120435

GenCC curated gene-disease

Disease	Classification	Inheritance
GNE myopathy	Definitive	Autosomal recessive
sialuria	Strong	Autosomal dominant
thrombocytopenia 12 with or without myopathy	Strong	Autosomal recessive
platelet-type bleeding disorder 19	Supportive	Autosomal recessive
congenital myopathy	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
macrothrombocytopenia, isolated	Definitive	AR

Mondo (9): sialuria (MONDO:0010028), GNE myopathy (MONDO:0011603), thrombocytopenia 12 with or without myopathy (MONDO:0958325), thrombocytopenia (MONDO:0002049), inclusion body myositis (MONDO:0007827), myopathy, autophagic vacuolar, infantile-onset (MONDO:0012286), hereditary nonpolyposis colon cancer (MONDO:0018630), platelet-type bleeding disorder 19 (MONDO:0014518), congenital myopathy (MONDO:0019952)

Orphanet (5): Sialuria (Orphanet:3166), GNE myopathy (Orphanet:602), Inclusion body myositis (Orphanet:611), Isolated hereditary giant platelet disorder (Orphanet:220452), Hereditary nonpolyposis colon cancer (Orphanet:443909)

HPO phenotypes

105 total (30 of 105 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000132	Menorrhagia
HP:0000158	Macroglossia
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000421	Epistaxis
HP:0000431	Wide nasal bridge
HP:0000629	Periorbital fullness
HP:0000664	Synophrys
HP:0000821	Hypothyroidism
HP:0000943	Dysostosis multiplex
HP:0000967	Petechiae
HP:0000978	Bruising susceptibility
HP:0001007	Hirsutism
HP:0001081	Cholelithiasis
HP:0001250	Seizure
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002815_5	Bipolar disorder (inflammation and infection response interaction)	6.000000e-06
GCST008097_31	Bisphosphonate-associated atypical femoral fracture	2.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007050	HSV1 seropositivity
EFO:0009958	response to bisphosphonate
EFO:0009960	atypical femoral fracture

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018979	Myositis, Inclusion Body	C05.651.594.600; C10.668.491.562.500
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523504 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	5
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Particulate Matter	increases abundance, affects expression, increases reaction, decreases expression	2
aristolochic acid I	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
periodate-oxidized adenosine	affects expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1
14-deoxy-11,12-didehydroandrographolide	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
fatostatin	decreases expression	1
Arsenic Trioxide	decreases expression	1
Troglitazone	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Vehicle Emissions	affects expression, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4369794	Binding	Binding affinity to His-tagged human MNK expressed in Escherichia coli BL21(DE3) in presence of ATP by 9F-NMR spectroscopy analysis	Ligand-Based Fluorine NMR Screening: Principles and Applications in Drug Discovery Projects. — J Med Chem

Cellosaurus cell lines

8 cell lines: 6 cancer cell line, 1 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D1MW	Abcam K-562 GNE KO	Cancer cell line	Female
CVCL_D2JG	Abcam Raji GNE KO	Cancer cell line	Male
CVCL_D9FN	Ubigene HEK293 GNE KO	Transformed cell line	Female
CVCL_E4G7	FDHSi005-A	Induced pluripotent stem cell	Male
CVCL_SQ15	HAP1 GNE (-) 1	Cancer cell line	Male
CVCL_SQ16	HAP1 GNE (-) 2	Cancer cell line	Male
CVCL_SQ17	HAP1 GNE (-) 3	Cancer cell line	Male
CVCL_UQ63	Abcam Jurkat GNE KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT07240649	PHASE4	NOT_YET_RECRUITING	Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications
NCT02377921	PHASE3	COMPLETED	Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
NCT02736188	PHASE3	TERMINATED	Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
NCT04671472	PHASE3	COMPLETED	Efficacy Confirmation Study of NPC-09
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
NCT00261924	PHASE3	COMPLETED	Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
NCT00415532	PHASE3	COMPLETED	Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura
NCT00420914	PHASE3	TERMINATED	Strategies for Transfusion of Platelets (SToP)
NCT00501345	PHASE3	TERMINATED	Aspirin in Patients With Myocardial Infarction and Thrombocytopenia
NCT00508820	PHASE3	COMPLETED	An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP
NCT00678587	PHASE3	TERMINATED	Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures
NCT01438840	PHASE3	COMPLETED	Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02)
NCT01444417	PHASE3	COMPLETED	Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia