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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：前胶原-赖氨酸，2-酮戊二酸 5-双加氧酶 2

种属: Homo sapiens

同用名: LH2; TLH; BRKS2

基因 ID: 5352 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种膜结合的同型二聚体酶，位于粗面内质网的池中。该酶 (辅助因子铁和抗坏血酸) 催化胶原样肽中赖氨酰残基的羟基化。生成的羟赖氨酰基团是胶原蛋白中碳水化合物的附着位点，因此对于分子间交联的稳定性至关重要。一些患有 Ehlers-Danlos 综合征类型 VIB 的患者存在赖氨酰羟化酶活性缺陷。该基因编码区的突变与布鲁克综合征有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables procollagen glucosyltransferase activity IDA
IDA: 通过直接分析推断
10934207 GOA
enables procollagen-lysine 5-dioxygenase activity IDA
IDA: 通过直接分析推断
10934207 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in hydroxylysine biosynthetic process IDA
IDA: 通过直接分析推断
10934207 GOA
involved in peptidyl-lysine hydroxylation IDA
IDA: 通过直接分析推断
10934207 GOA
NOT involved in protein O-linked glycosylation IDA
IDA: 通过直接分析推断
10934207 GOA
involved in response to hypoxia IEP
IEP: 通过表达模式推断
15174142 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PLOD2 蛋白结构

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (652 - 737)

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
蛋白主名 其他名称

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

lysine hydroxylase 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10729 PLOD2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18400 Plod2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24881 Plod2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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