Homo sapiens Gene: PLOD2
Summary
InnateDB Gene IDBG-60000.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLOD2
Gene Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
Synonyms LH2; TLH;
Species Homo sapiens
Ensembl Gene ENSG00000152952
Encoded Proteins
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:146069440-146163653
Strand Reverse strand
Band q24
Transcripts
ENST00000282903 ENSP00000282903
ENST00000360060 ENSP00000353170
ENST00000461497 ENSP00000419354
ENST00000494950 ENSP00000420094
ENST00000495700
ENST00000475505
ENST00000478436
ENST00000460520
ENST00000469350 ENSP00000419963
ENST00000480704 ENSP00000419880
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
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:0016706 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
GO:0031418 L-ascorbic acid binding
Biological Process
GO:0001666 response to hypoxia
GO:0006464 cellular protein modification process
GO:0030198 extracellular matrix organization
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005581 collagen trimer
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0030867 rough endoplasmic reticulum membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Collagen formation pathway
KEGG
Lysine degradation pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.477866
RefSeq NM_000935 NM_182943 XM_005247535
HUGO
OMIM
CCDS CCDS3131 CCDS3132
HPRD 03519
IMGT
EMBL
GenPept
RNA Seq Atlas