PLOD2 Back

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PLOD2
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

Community Annotation of PLOD2 Add / Edit PLOD2: Annotations

No community annotations yet for PLOD2.
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

PLOD2 is highly significantly mutated in
(none)
PLOD2 is significantly mutated in
(none)
PLOD2 is near significance in
(none)

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

Data details


• Mutation list for PLOD2