PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Summary
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]
Known Variants374 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886058061 | 3:145,787,293 | G/A | — | uncertain significance |
| rs1576566139 | 3:145,787,335 | A/G | — | uncertain significance |
| rs569145930 | 3:145,787,347 | A/G | — | uncertain significance |
| rs576223865 | 3:145,787,455 | C/A | — | uncertain significance |
| rs1936052669 | 3:145,787,470 | T/G | — | uncertain significance |
| rs757669792 | 3:145,787,574 | T/G | — | uncertain significance |
| rs183566908 | 3:145,787,656 | C/T | — | likely benign |
| rs3792347 | 3:145,787,657 | A/G | — | benign |
| rs540984133 | 3:145,787,695 | A/G | — | uncertain significance |
| rs141834169 | 3:145,787,740 | T/C | — | benign |
| rs192883327 | 3:145,787,745 | A/G | — | uncertain significance |
| rs1255788955 | 3:145,787,762 | T/C | — | uncertain significance |
| rs566705549 | 3:145,787,821 | G/A | — | uncertain significance |
| rs1413215458 | 3:145,787,831 | T/A | — | uncertain significance |
| rs886058062 | 3:145,787,917 | C/T | — | uncertain significance |
| rs904592942 | 3:145,788,003 | G/A | — | uncertain significance |
| rs1936077742 | 3:145,788,086 | T/A | — | uncertain significance |
| rs886058063 | 3:145,788,212 | G/A | — | uncertain significance |
| rs13079521 | 3:145,788,333 | A/C | — | benign |
| rs886058064 | 3:145,788,356 | A/G | — | uncertain significance |
| rs1446618037 | 3:145,788,441 | A/C | — | uncertain significance |
| rs6710 | 3:145,788,467 | T/C | — | benign |
| rs148862685 | 3:145,788,472 | A/G | — | likely benign |
| rs143499824 | 3:145,788,479 | T/G | — | uncertain significance |
| rs1936095846 | 3:145,788,511 | T/A | — | uncertain significance |
| rs561992291 | 3:145,788,513 | T/C | — | uncertain significance |
| rs2107990046 | 3:145,788,535 | C/A | — | uncertain significance |
| rs78976445 | 3:145,788,552 | A/G | — | likely benign |
| rs772298692 | 3:145,788,557 | G/C | — | uncertain significance |
| rs2473215752 | 3:145,788,559 | C/T | — | uncertain significance |
| rs2473215934 | 3:145,788,611 | G/A | — | uncertain significance |
| rs377413994 | 3:145,788,623 | T/C | — | uncertain significance |
| rs2473216005 | 3:145,788,638 | T/C | — | uncertain significance |
| rs776917428 | 3:145,788,646 | T/C | — | uncertain significance |
| rs1344864014 | 3:145,788,654 | A/G | — | likely benign |
| rs762644377 | 3:145,788,661 | T/C | — | conflicting classifications of pathogenicity |
| rs766060544 | 3:145,788,667 | A/T | — | uncertain significance |
| rs2305274 | 3:145,788,803 | T/C | — | benign |
| rs376009508 | 3:145,788,815 | A/G | — | conflicting classifications of pathogenicity |
| rs370059614 | 3:145,788,820 | C/G | — | likely benign |
| rs140079753 | 3:145,788,840 | C/T | — | uncertain significance |
| rs147997412 | 3:145,788,844 | C/G | — | likely benign |
| rs780062874 | 3:145,788,846 | C/A | — | uncertain significance |
| rs555534138 | 3:145,788,847 | G/A | — | conflicting classifications of pathogenicity |
| rs1312638939 | 3:145,788,856 | T/G | — | likely benign |
| rs748422284 | 3:145,788,876 | T/C | — | uncertain significance |
| rs1936109638 | 3:145,788,890 | T/C | — | likely pathogenic |
| rs1461071943 | 3:145,788,893 | G/A | — | uncertain significance |
| rs144675042 | 3:145,788,896 | C/T | — | uncertain significance |
| rs760643773 | 3:145,788,911 | C/T | — | uncertain significance |
| rs780770356 | 3:145,788,912 | G/A | stop gained | pathogenic |
| rs763894955 | 3:145,788,928 | T/A | — | likely benign |
| rs1936114630 | 3:145,788,959 | A/C | — | likely benign |
| rs758749377 | 3:145,788,962 | A/T | — | likely benign |
| rs1270815625 | 3:145,788,963 | G/T | — | likely benign |
| rs1439424168 | 3:145,788,972 | G/A | — | likely benign |
| rs1205001480 | 3:145,788,973 | C/T | — | likely benign |
| rs183644336 | 3:145,789,045 | G/C | — | benign |
| rs1936119443 | 3:145,789,064 | C/T | — | uncertain significance |
| rs765108706 | 3:145,789,077 | C/T | — | uncertain significance |
| rs2473217597 | 3:145,789,078 | C/T | — | uncertain significance |
| rs967744523 | 3:145,789,101 | G/C | — | conflicting classifications of pathogenicity |
| rs151018419 | 3:145,789,104 | G/A | — | uncertain significance |
| rs1057524250 | 3:145,789,110 | A/G | missense variant | pathogenic |
| rs748652746 | 3:145,789,116 | C/T | — | conflicting classifications of pathogenicity |
| rs368177696 | 3:145,789,117 | G/A | — | uncertain significance |
| rs535406800 | 3:145,789,119 | A/G | — | uncertain significance |
| rs1296425489 | 3:145,789,160 | G/C | — | uncertain significance |
| rs1453077675 | 3:145,789,166 | A/G | — | likely benign |
| rs121434459 | 3:145,789,173 | G/A | missense variant | pathogenic |
| rs1248510301 | 3:145,789,187 | A/C | — | likely pathogenic |
| rs2473217960 | 3:145,789,191 | C/G | — | uncertain significance |
| rs121434460 | 3:145,789,194 | C/A | missense variant | pathogenic |
| rs762788421 | 3:145,789,195 | C/A | — | uncertain significance |
| rs121434461 | 3:145,789,203 | C/T | missense variant | pathogenic |
| rs759871520 | 3:145,789,204 | G/A | — | uncertain significance |
| rs372524052 | 3:145,789,205 | G/A | — | likely benign |
| rs1467565642 | 3:145,789,228 | G/A | — | likely benign |
| rs3804670 | 3:145,790,046 | C/T | — | benign |
| rs112122519 | 3:145,790,292 | A/G | — | benign |
| rs1254386697 | 3:145,790,336 | A/G | — | likely benign |
| rs2473220795 | 3:145,790,347 | C/A | — | likely pathogenic |
| rs1002092343 | 3:145,790,348 | A/G | — | uncertain significance |
| rs2473220833 | 3:145,790,354 | T/A | — | uncertain significance |
| rs767824565 | 3:145,790,362 | C/G | — | uncertain significance |
| rs867911541 | 3:145,790,363 | A/G | — | likely benign |
| rs1559831570 | 3:145,790,383 | C/T | — | uncertain significance |
| rs772058882 | 3:145,790,398 | A/G | — | likely benign |
| rs1936187674 | 3:145,790,432 | C/A | — | pathogenic |
| rs374567883 | 3:145,790,452 | G/C | — | uncertain significance |
| rs376704588 | 3:145,790,463 | T/C | — | conflicting classifications of pathogenicity |
| rs201071953 | 3:145,790,472 | G/A | — | likely benign |
| rs3762694 | 3:145,790,519 | T/A | — | benign |
| rs1449444 | 3:145,790,803 | G/T | — | benign |
| rs147506063 | 3:145,790,850 | G/T | — | likely benign |
| rs7639592 | 3:145,790,948 | A/G | — | benign |
| rs558336915 | 3:145,791,085 | T/C | — | conflicting classifications of pathogenicity |
| rs376497013 | 3:145,791,114 | C/T | — | uncertain significance |
| rs1440794726 | 3:145,791,128 | T/G | — | uncertain significance |
| rs775318546 | 3:145,791,143 | T/C | — | likely benign |
Showing 100 of 374 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.