GNE
Chr 9glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Also known as: DMRV, GLCNE, IBM2, NM, THC12, Uae1
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. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GNE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Ivosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 Systemic Treatment Regimen
RECRUITINGA Study to Test How Well BI 3000202 is Tolerated by People With Type 1 Interferonopathies
ACTIVE NOT RECRUITINGFollow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
ACTIVE NOT RECRUITINGA Study of LY4005130 in Adult Participants With Non-Segmental Vitiligo
RECRUITINGPrediction of Surgical Resectability After FOLFIRINOX Chemotherapy for Borderline Resectable and Locally Advanced Pancreatic Cancer: the Role of Diffusion Weighted Magnetic Resonance Imaging, Radiomics and Liquid Biopsy (PeRFormanCe Trial)
RECRUITINGStudy to Evaluate Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) Long-term Safety and Efficacy in Subjects Without F508del
ACTIVE NOT RECRUITINGA Clinical Study of Sacituzumab Tirumotecan (Sac-TMT, MK-2870) in People With Breast Cancer (MK-2870-032)
RECRUITINGA Study of Metastases Free Survival With Saruparib vs Placebo Added to a Standard RT/ADT in Men With High-risk Prostate Cancer With a BRCA Mutation
RECRUITINGRegistry for Patients With X-Linked Hypophosphatemia
RECRUITINGOpen-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Gene Therapy (SPVN20) in Subjects With Rod-Cone Dystrophy
RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
ACTIVE NOT RECRUITINGA Study of Maribavir in Adults With Post-transplant Cytomegalovirus (CMV) Infection in Belgium
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools