• Gene id: 5352

Gene Summary

• Gene Symbol: PLOD2   Gene   UCSC   Ensembl
• Aliases: BRKS2, LH2, TLH
• Gene name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• Alternate names: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2, lysine hydroxylase 2, lysyl hydroxlase 2, lysyl hydroxylase 2, procollagen-lysine 5-dioxygenase, telopeptide lysyl hydroxylase,
• Gene location: 3q24 (146161494: 146069436)     Exons: 23     NC_000003.12
• Gene summary(Entrez): 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 peptide
• OMIM: 601865

Protein Summary

• Protein general information: O00469  
  • Name: Procollagen lysine,2 oxoglutarate 5 dioxygenase 2 (EC 1.14.11.4) (Lysyl hydroxylase 2) (LH2)
  • Length: 737  
  • Mass: 84686
  • 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
• Sequence:

  MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEW
  RGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRL
  ADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGA
  VDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSI
  GVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMG
  MDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQG
  NRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSH
  YNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRIS
  GGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTIN
  IALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP

• Structural information:
  • Protein Domains: (644..73-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR029044  IPR005123  IPR006620  IPR001006  
  • Prosite: PS51471 PS01325
  • STRING: ENSP00000282903
• Other Databases: GeneCards:  PLOD2  Malacards:  PLOD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017185	peptidyl-lysine hydroxylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0008475	procollagen-lysine 5-dioxygenase activity	IBA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008475	procollagen-lysine 5-dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006464	cellular protein modification process	TAS	biological process
GO:0008475	procollagen-lysine 5-dioxygenase activity	TAS	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0006493	protein O-linked glycosylation	IDA	NOT|biological process
GO:0017185	peptidyl-lysine hydroxylation	ISS	biological process
GO:0017185	peptidyl-lysine hydroxylation	IDA	biological process
GO:0008475	procollagen-lysine 5-dioxygenase activity	ISS	molecular function
GO:0046947	hydroxylysine biosynthetic process	IDA	biological process
GO:0008475	procollagen-lysine 5-dioxygenase activity	IDA	molecular function
GO:0033823	procollagen glucosyltransferase activity	IDA	NOT|molecular function
GO:0001666	response to hypoxia	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Bruck syndrome	KEGG:H00514
Bruck syndrome	KEGG:H00514
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)