PLOD2 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Gene

Also Known as LH2; TLH; BRKS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5352

About PLOD2

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:146,069,440-146,161,184 (from NCBI)

This gene has 23 transcripts (splice variants), 214 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in thyroid (RPKM 48.4), fat (RPKM 35.4) and 19 other tissues.

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]

PLOD2 Products (2)

mRNA	Protein	Name
NM_000935.3	NP_000926.2	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 2 precursor
NM_182943.3	NP_891988.1	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
NOT enables procollagen glucosyltransferase activity	IDA IDA: Inferred from direct assay	10934207	GOA
enables procollagen-lysine 5-dioxygenase activity	IDA IDA: Inferred from direct assay	10934207	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hydroxylysine biosynthetic process	IDA IDA: Inferred from direct assay	10934207	GOA
involved in peptidyl-lysine hydroxylation	IDA IDA: Inferred from direct assay	10934207	GOA
NOT involved in protein O-linked glycosylation	IDA IDA: Inferred from direct assay	10934207	GOA
involved in response to hypoxia	IEP IEP: Inferred from expression pattern	15174142	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLOD2 Protein Structure

2OG-FeII_Oxy

0
200
400
600
737 a.a.

Protein Preferred Names	Protein Names
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	lysine hydroxylase 2

Related Diseases

Diseases	Alias
Bruck Syndrome 2	BRKS2 Osteogenesis Imperfecta With Congenital Joint Contractures Bruck Syndrome, Type 2
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Nevo Syndrome Eds Vi Ehlers-Danlos Syndrome, Type Vi Eds Via Ehlers-Danlos Syndrome Type 6 EDSKSCL1 Eds6 Ehlers-Danlos Syndrome Kyphoscoliotic Type 1 Kyphoscoliotic Ehlers-Danlos Syndrome Cutis Hyperelastica Ehlers-Danlos Syndrome Type 6a Ehlers-Danlos Syndrome Oculoscoliotic Type Kyphoscoliotic Eds Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency Lysyl Hydroxylase-Deficient Eds Ocular-Scoliotic Eds Keds Keds-Plod1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1 Ehlers-Danlos Syndrome, Ocular-Scoliotic Type Ehlers-Danlos Syndrome, Type Via, Formerly Eds6a, Formerly Eds 6 Eds, Kyphoscoliotic Type Eds, Oculoscoliotic Type Ehlers-Danlos Syndrome, Kyphoscoliosis Type Ehlers-Danlos Syndrome, Kyphoscoliotic Type Ehlers-Danlos Syndrome, Oculoscoliotic Type Eds6a Ehlers-Danlos Syndrome 6 Ehlers-Danlos Syndrome Kyphoscoliotic Type
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Talipes Equinovarus	Congenital Equinovarus Congenital Talipes Equinovarus Equinovarus Congenital Varus Clubfoot
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	CCF Familial Clubfoot Due To 5q31 Microdeletion Familial Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To 5q31 Microdeletion Talipes Equinovarus Tev Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Congenital Hydrocephalus	Hydrocephalus Hydrocephalus Adverse Event Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus In Newborn Congenital Hydrocephaly
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Scoliosis
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10729	PLOD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18400	Plod2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24881	Plod2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PLOD2	VGNC	VGNC:68908
Mus musculus	PLOD2	MGD	MGI:1347007
Macaca mulatta	PLOD2	VGNC	VGNC:76176
Bos taurus	PLOD2	VGNC	VGNC:33040
Canis familiaris	PLOD2	VGNC	VGNC:44702
Rattus norvegicus	PLOD2	RGD	RGD:3353
Others	PLOD2	NCBI