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

Homo sapiens

Also known as LH2; TLH; BRKS2

Gene ID: 5352 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10729	PLOD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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