Human Gene PLOD2 (ENST00000282903.10) from GENCODE V44
Description: Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA. (from RefSeq NM_182943) RefSeq Summary (NM_182943): 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]. Gencode Transcript: ENST00000282903.10 Gencode Gene: ENSG00000152952.14 Transcript (Including UTRs) Position: hg38 chr3:146,069,440-146,161,184 Size: 91,745 Total Exon Count: 20 Strand: - Coding Region Position: hg38 chr3:146,070,717-146,160,989 Size: 90,273 Coding Exon Count: 20
ID:PLOD2_HUMAN DESCRIPTION: RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; EC=1.14.11.4; AltName: Full=Lysyl hydroxylase 2; Short=LH2; Flags: Precursor; FUNCTION: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. CATALYTIC ACTIVITY: L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2). COFACTOR: Iron (By similarity). COFACTOR: Ascorbate (By similarity). SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. TISSUE SPECIFICITY: Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta. DISEASE: Defects in PLOD2 are the cause of Bruck syndrome type 2 (BRKS2) [MIM:609220]. Bruck syndrome, also known as osteogenesis imperfecta with congenital joint contractures, is an autosomal recessive disease characterized by generalized osteopenia, joint contractures at birth, fragile bones and short stature. It can be distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. The molecular defect is an aberrant cross-linking of bone collagen, due to underhydroxylation of lysine residues within the telopeptides of type I collagen, whereas the lysine residues in the triple helix are normal. SIMILARITY: Contains 1 Fe2OG dioxygenase domain. SEQUENCE CAUTION: Sequence=BAD93116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (PLOD2); URL="http://oi.gene.le.ac.uk/home.php?select_db=PLOD2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00469
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005506 iron ion binding GO:0008475 procollagen-lysine 5-dioxygenase activity GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0031418 L-ascorbic acid binding GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:0033823 procollagen glucosyltransferase activity
Biological Process: GO:0001666 response to hypoxia GO:0006464 cellular protein modification process GO:0017185 peptidyl-lysine hydroxylation GO:0046947 hydroxylysine biosynthetic process GO:0055114 oxidation-reduction process GO:0006493 protein O-linked glycosylation