POMGNT1 Back

protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of POMGNT1
The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.

Community Annotation of POMGNT1 Add / Edit POMGNT1: Annotations

No community annotations yet for POMGNT1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

POMGNT1 is highly significantly mutated in
(none)
POMGNT1 is significantly mutated in
(none)
POMGNT1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for POMGNT1