GNE Chromosome 9

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
243 variants 243 Health Risk

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What This Gene Does
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]
Associated Conditions (12)
Sialuria
GNE myopathy
GNE-related disorder
Thrombocytopenia 12 with or without myopathy
Inborn genetic diseases
Malignant tumor of urinary bladder
Thrombocytopenia
Lung cancer
Hereditary nonpolyposis colon cancer
Myopathy
autophagic vacuolar
infantile-onset
Key Variants
RS1022557448
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS112824871
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS1173945551
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS121908625
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS121908627
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
RS121908630
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS1258671706
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS138694766
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
RS139442869
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS1401082365
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy
Health Risk
RS141172610
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS141814943
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
All Variants (243)
RSID Category Clinical Significance Conditions
RS1829294478 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS199877522 Health Risk Likely pathogenic GNE myopathy, Sialuria, Inborn genetic diseases
RS2133067872 Health Risk Likely pathogenic Sialuria, GNE myopathy, Sialuria
RS2489580541 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489580920 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489591319 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489591806 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489592662 Health Risk Likely pathogenic Sialuria, GNE myopathy, Sialuria
RS2489631969 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489662458 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489664378 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489680991 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489681092 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489715788 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489715838 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489716585 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489734471 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489735126 Health Risk Likely pathogenic Sialuria, GNE myopathy, Sialuria
RS2489785254 Health Risk Likely pathogenic —
RS2489786046 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489786751 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489786839 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489791629 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489933374 Health Risk Likely pathogenic GNE myopathy, Sialuria, GNE myopathy
RS747496165 Health Risk Likely pathogenic GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy
RS755743750 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS758253709 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS758814313 Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS774867424 Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1057516374 Health Risk Pathogenic GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy
RS1057516657 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS111302956 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
RS1212623980 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908621 Health Risk Pathogenic Sialuria, Inborn genetic diseases, Sialuria
RS121908622 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
RS121908628 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908632 Health Risk Pathogenic GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy
RS121908633 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908634 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS1276168825 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
RS1357906793 Health Risk Pathogenic GNE myopathy, Sialuria, GNE myopathy
RS1479027996 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
RS1554658453 Health Risk Pathogenic GNE myopathy, Sialuria, GNE myopathy
RS1554658877 Health Risk Pathogenic —
RS1554658924 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
RS1554658955 Health Risk Pathogenic GNE myopathy, Sialuria, GNE myopathy
RS1554661552 Health Risk Pathogenic GNE myopathy, Sialuria, GNE myopathy
RS1554661574 Health Risk Pathogenic GNE myopathy, Sialuria, GNE myopathy
RS1554663295 Health Risk Pathogenic GNE myopathy, GNE myopathy
RS1554663368 Health Risk Pathogenic Sialuria, GNE myopathy, Sialuria
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