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MGP002331

UniProt Annotations

Entry Information

Gene Name	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
Protein Entry	PLOD2_HUMAN
UniProt ID	O00469
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=O00469-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O00469-2; Sequence=VSP_013467; Name=3; IsoId=O00469-3; Sequence=VSP_057221, VSP_057222, VSP_013467; Note=No experimental confirmation available.;
Catalytic Activity	L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2).
Cofactor	Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
Cofactor	Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000250};
Disease	Bruck syndrome 2 (BRKS2) [MIM:609220]: An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. {ECO:0000269\|PubMed:12881513, ECO:0000269\|PubMed:15523624}. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect leading to Bruck syndrome 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.
Disease	Note=PLOD2 mutations give rise to a broad variety of phenotypes with variable degrees of severity of bone fragility and joint contractures. Disease-associated mutations have been found in patients with autosomal recessive osteogenesis imperfecta (AR- OI) (PubMed:22689593). {ECO:0000269\|PubMed:22689593}.
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.
Sequence Caution	Sequence=BAD93116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Contains 1 Fe2OG dioxygenase domain. {ECO:0000255\|PROSITE-ProRule:PRU00805}.
Subcellular Location	Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.
Subunit	Homodimer. {ECO:0000250}.
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. {ECO:0000269\|PubMed:10372558}.
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";