2. Gene
  3. MESD - mesoderm development LRP chaperone Gene

MESD - mesoderm development LRP chaperone Gene

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

中文名称：中胚层发育 LRP 伴侣

种属: Homo sapiens

同用名: BOCA; OI20; MESDC2

基因 ID: 23184 | 基因类型: protein coding

关于 MESD

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:80,946,289-80,989,819 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues.

功能概要

预测可启用低密度脂蛋白颗粒受体结合活性。参与骨化和蛋白质折叠。位于内质网。涉及 20 型成骨不全症。[由基因组资源联盟提供，2022 年 4 月]

Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Apr 2022]

MESD 基因产物(1)

mRNA Protein Name
NM_015154.3 NP_055969.1 LRP chaperone MESD precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ossification IMP
IMP: 通过突变表型推断
31564437 GOA
involved in protein folding IMP
IMP: 通过突变表型推断
31564437 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IMP
IMP: 通过突变表型推断
31564437 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

MESD 蛋白结构

Mesd

Mesd: Chaperone for wingless signalling and trafficking of LDL receptor (51 - 222)

  • 0
  • 100
  • 200
  • 234 a.a.
蛋白主名 其他名称

LRP chaperone MESD

LDLR chaperone MESD

重组 MESD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76492 MESDC2 Protein, Human (HEK293, His) Q14696-1 (A34-K230) ≥95%

关联疾病

疾病名称 别名
Osteogenesis Imperfecta, Type Xx

OI20

Osteogenesis Imperfecta Type 20

Osteogenesis Imperfecta, Type 20

Osteogenesis Imperfecta Type Xx

Osteogenesis Imperfecta 20
Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Type 2

OI2

Oi, Type Ii

Osteogenesis Imperfecta Congenita

Oic

Osteogenesis Imperfecta Type Ii

Lethal Osteogenesis Imperfecta

Oi Type 2

Osteogenesis Imperfecta Congenita Perinatal Lethal Form

Osteogenesis Imperfecta Congenita, Perinatal Lethal Form

Perinatal Lethal Osteogenesis Imperfecta Congenita

Perinatally Lethal Oi

Osteogenesis Imperfecta 2

Oi-Ii

Oi-Iia

Oi Type Iia

Osteogenesis Imperfecta Type Iia

Osteogenesis Imperfecta Type Ii Autosomal Dominant

Oi Type Ii

Osteogenesis Imperfecta, Dominant Perinatal Lethal
Epilepsy, Nocturnal Frontal Lobe, 2

Epilepsy, Nocturnal Frontal Lobe, Type 2

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

ENFL2

Nocturnal Frontal Lobe Epilepsy 2
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
Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility
Brittle Cornea Syndrome 1

Brittle Cornea Syndrome

Fragilitas Oculi With Joint Hyperextensibility

Dysgenesis Mesodermalis Corneae Et Sclerae

BCS1

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Type Vib Ehlers-Danlos Syndrome

Eds Vib

Ehlers-Danlos Syndrome Type 6b

Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos Syndrome Type 6

Cornea, Brittle, Syndrome

Cornea, Brittle, Syndrome, Type 1

Ehlers-Danlos Syndrome 6b
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
Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure
Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-D0858S MES-d13 98.78% 否
HY-RS08341 MESD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus MESD VGNC VGNC:63452
Mus musculus MESD MGD MGI:1891421
Rattus norvegicus MESD RGD RGD:1310344
Macaca mulatta MESD VGNC VGNC:74507
Bos taurus MESD VGNC VGNC:31392
Others MESD NCBI
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