InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-60002

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

IDBP-60004

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

IDBP-475067

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

IDBP-476489

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

IDBP-475753

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

IDBP-473638

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

ENSMUSG00000032374

View Gene Order

ENSBTAG00000007331

Not yet available

Pathways

NETPATH

REACTOME

REACT_121139

Collagen biosynthesis and modifying enzymes pathway

REACT_118779

Extracellular matrix organization pathway

REACT_120729

Collagen formation pathway

KEGG

hsa00310

Lysine degradation pathway

INOH

PID NCI

Cross-References

SwissProt

O00469

TrEMBL

B3KWS3 C9JXZ0 E7ETU9 F8WEW3 Q96AR9 Q96QU5 Q9Y6D3

UniProt Splice Variant

Entrez Gene

5352

UniGene

Hs.477866

RefSeq

NM_000935 NM_182943 XM_005247535

HUGO

HGNC:9082

OMIM

601865

CCDS

CCDS3131 CCDS3132

HPRD

IMGT

EMBL

AB209879 AC092982 AC107021 AF085277 AK125700 AY026757 BC016834 BC037169 U84573

GenPept

AAB58363 AAD40977 AAH16834 AAH37169 AAK20119 BAD93116 BAG54235

RNA Seq Atlas

5352