PLOD2 Chromosome 3
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Upload your DNA to see your personal genotypes for variants in PLOD2.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Procollagen-lysine,2-oxoglutarate 5-dioxygenase family
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000152952
Associated Conditions (11)
PLOD2-related disorder
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Familial cancer of breast
Bruck syndrome 2
Inborn genetic diseases
Cervical cancer
Osteogenesis imperfecta
9 conditions
Key Variants
RS115199093
Conflicting classifications of pathogenicity
PLOD2-related disorder, PLOD2-related disorder
Health Risk
RS138948307
Conflicting classifications of pathogenicity
Health Risk
RS140613062
Conflicting classifications of pathogenicity
Clear cell carcinoma of kidney, Ovarian serous cystadenocarcinoma, Hepatocellular carcinoma
Health Risk
RS142909885
Conflicting classifications of pathogenicity
Bruck syndrome 2, Bruck syndrome 2
Health Risk
RS145189838
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147402171
Conflicting classifications of pathogenicity
Inborn genetic diseases, PLOD2-related disorder, Inborn genetic diseases
Health Risk
RS149019740
Conflicting classifications of pathogenicity
Bruck syndrome 2, Hepatocellular carcinoma, Cervical cancer
Health Risk
RS368727638
Conflicting classifications of pathogenicity
Bruck syndrome 2, Bruck syndrome 2
Health Risk
RS376009508
Conflicting classifications of pathogenicity
Bruck syndrome 2, Bruck syndrome 2
Health Risk
RS376704588
Conflicting classifications of pathogenicity
Bruck syndrome 2, Bruck syndrome 2
Health Risk
RS555534138
Conflicting classifications of pathogenicity
Bruck syndrome 2, Bruck syndrome 2
Health Risk
RS558336915
Conflicting classifications of pathogenicity
Bruck syndrome 2, Osteogenesis imperfecta, Bruck syndrome 2
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115199093 | Health Risk | Conflicting classifications of pathogenicity | PLOD2-related disorder, PLOD2-related disorder |
| RS138948307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140613062 | Health Risk | Conflicting classifications of pathogenicity | Clear cell carcinoma of kidney, Ovarian serous cystadenocarcinoma, Hepatocellular carcinoma |
| RS142909885 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS145189838 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147402171 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PLOD2-related disorder, Inborn genetic diseases |
| RS149019740 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Hepatocellular carcinoma, Cervical cancer |
| RS368727638 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS376009508 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS376704588 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS555534138 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS558336915 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Osteogenesis imperfecta, Bruck syndrome 2 |
| RS748652746 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761346369 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Bruck syndrome 2 |
| RS762644377 | Health Risk | Conflicting classifications of pathogenicity | PLOD2-related disorder, PLOD2-related disorder |
| RS778360818 | Health Risk | Conflicting classifications of pathogenicity | 9 conditions, Bruck syndrome 2, 9 conditions |
| RS893004444 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Osteogenesis imperfecta, Bruck syndrome 2 |
| RS967744523 | Health Risk | Conflicting classifications of pathogenicity | Bruck syndrome 2, Osteogenesis imperfecta, Bruck syndrome 2 |
| RS1057524250 | Health Risk | Likely pathogenic | — |
| RS121434461 | Health Risk | Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS1248510301 | Health Risk | Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS1936109638 | Health Risk | Likely pathogenic | — |
| RS1937608887 | Health Risk | Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS201501322 | Health Risk | Likely pathogenic | — |
| RS2473220795 | Health Risk | Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS753497692 | Health Risk | Likely pathogenic | — |
| RS1057524251 | Health Risk | Pathogenic | — |
| RS121434459 | Health Risk | Pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS121434460 | Health Risk | Pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS1248502995 | Health Risk | Pathogenic | — |
| RS1936187674 | Health Risk | Pathogenic | — |
| RS2108010958 | Health Risk | Pathogenic | — |
| RS2108010991 | Health Risk | Pathogenic | — |
| RS2108057452 | Health Risk | Pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS2108157679 | Health Risk | Pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS2473222978 | Health Risk | Pathogenic | — |
| RS2473262415 | Health Risk | Pathogenic | — |
| RS2473271217 | Health Risk | Pathogenic | — |
| RS2473328425 | Health Risk | Pathogenic | — |
| RS749709000 | Health Risk | Pathogenic | Bruck syndrome 2, Osteogenesis imperfecta, Bruck syndrome 2 |
| RS750664256 | Health Risk | Pathogenic | — |
| RS1353563172 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Bruck syndrome 2, Osteogenesis imperfecta |
| RS1436930576 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS1936442200 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS778254905 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 2, Bruck syndrome 2 |
| RS780770356 | Health Risk | Pathogenic/Likely pathogenic | 9 conditions, Bruck syndrome 2, 9 conditions |