InnateDB Protein
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IDBP-60002.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PLOD2
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Protein Name
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procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
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Synonyms
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LH2; TLH;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000282903
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InnateDB Gene
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IDBG-60000 (PLOD2)
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Protein Structure
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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.
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Subcellular Localization |
Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.
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Disease Associations |
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:0000269PubMed:12881513, ECO:0000269PubMed: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.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:0000269PubMed:22689593}.
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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:0000269PubMed:10372558}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
44
[view]
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Protein-Protein |
44
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005506
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iron ion binding
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GO:0008475
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procollagen-lysine 5-dioxygenase activity
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GO:0016491
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oxidoreductase activity
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GO:0016705
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oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
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GO:0016706
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oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
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GO:0031418
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L-ascorbic acid binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005123
Oxoglutarate/iron-dependent dioxygenase
IPR006620
Prolyl 4-hydroxylase, alpha subunit
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF03171
PF13640
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PRINTS |
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PIRSF |
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SMART |
SM00702
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TIGRFAMs |
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Modification |
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SwissProt |
O00469
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PhosphoSite |
PhosphoSite-O00469
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TrEMBL |
Q9Y6D3
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UniProt Splice Variant |
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Entrez Gene |
5352
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UniGene |
Hs.477866
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RefSeq |
NP_891988
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HUGO |
HGNC:9082
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OMIM |
601865
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CCDS |
CCDS3132
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HPRD |
03519
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IMGT |
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EMBL |
AB209879
AC092982
AC107021
AF085277
AY026757
BC016834
BC037169
U84573
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GenPept |
AAB58363
AAD40977
AAH16834
AAH37169
AAK20119
BAD93116
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