The PLOD2 gene homepage


Osteogenesis Imperfecta Variant Database
General information
Gene symbol PLOD2
Gene name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
Chromosome 3
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_009251.1
Transcript reference NM_182943.2
Exon/intron information NM_182943.2 exon/intron table
Associated with diseases BRKS, BRKS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 73
Unique public DNA variants reported 52
Individuals with public variants 43
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created July 02, 2010
Date last updated February 26, 2024
Version PLOD2:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_182943.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PLOD2
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 9082
Entrez Gene 5352
PubMed articles PLOD2
OMIM - Gene 601865
OMIM - Diseases BRKS2 (Bruck syndrome, type 2 (BRKS2))
HGMD PLOD2
GeneCards PLOD2
GeneTests PLOD2
Orphanet PLOD2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025505 3 transcript variant 1 NM_182943.2 NP_891988.1 73


Copyright & disclaimer
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