2. Gene
  3. MEGF10 - multiple EGF like domains 10 Gene

MEGF10 - multiple EGF like domains 10 Gene

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

中文名称：多个 EGF 样域 10

种属: Homo sapiens

同用名: SR-F3; EMARDD

基因 ID: 84466 | 基因类型: protein coding

关于 MEGF10

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:127,229,300-127,461,222 (from NCBI)

This gene has 10 transcripts (splice variants), 193 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.7), adrenal (RPKM 1.0) and 4 other tissues.

功能概要

该基因编码多个表皮生长因子样结构域蛋白家族的成员。编码的蛋白质在细胞粘附、运动和增殖中发挥作用，并且是凋亡细胞吞噬作用以及大脑中淀粉样蛋白-β 肽摄取的关键介质。该基因的表达可能与精神分裂症有关，并且该基因的突变是早发性肌病、反射消失、呼吸窘迫和吞咽困难 (EMARDD) 以及伴有微核的先天性肌病的原因。已观察到该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 4 月]

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

MEGF10 基因产物(4)

mRNA Protein Name
NM_001256545.2 NP_001243474.1 multiple epidermal growth factor-like domains protein 10 isoform a precursor
NM_001308119.2 NP_001295048.1 multiple epidermal growth factor-like domains protein 10 isoform b precursor
NM_001308121.2 NP_001295050.1 multiple epidermal growth factor-like domains protein 10 isoform b precursor
NM_032446.3 NP_115822.1 multiple epidermal growth factor-like domains protein 10 isoform a 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 Notch binding IPI
IPI: 通过物理相互作用推断
28498977 GOA
enables complement component C1q complex binding IDA
IDA: 通过直接分析推断
27170117 GOA
enables scavenger receptor activity IDA
IDA: 通过直接分析推断
27170117 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in homotypic cell-cell adhesion IDA
IDA: 通过直接分析推断
22407321 GOA
involved in muscle cell development IMP
IMP: 通过突变表型推断
22101682 GOA
involved in muscle cell proliferation IMP
IMP: 通过突变表型推断
28498977 GOA
involved in myoblast migration IMP
IMP: 通过突变表型推断
28498977 GOA
involved in positive regulation of cell-cell adhesion IMP
IMP: 通过突变表型推断
31267131 GOA
involved in positive regulation of myoblast proliferation IMP
IMP: 通过突变表型推断
31267131 GOA
involved in regulation of muscle cell differentiation IMP
IMP: 通过突变表型推断
22101682 GOA
involved in regulation of skeletal muscle tissue development IMP
IMP: 通过突变表型推断
22101682 GOA
involved in skeletal muscle satellite cell differentiation IMP
IMP: 通过突变表型推断
22101682 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in phagocytic cup IDA
IDA: 通过直接分析推断
17205124 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
27170117 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

MEGF10 蛋白结构

hEGF

hEGF: Human growth factor-like EGF (209 - 221)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (281 - 319)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (368 - 411)

hEGF

hEGF: Human growth factor-like EGF (557 - 568)

hEGF

hEGF: Human growth factor-like EGF (645 - 656)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (759 - 796)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (802 - 830)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1140 a.a.
蛋白主名 其他名称

multiple epidermal growth factor-like domains protein 10

重组 MEGF10 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76490 MEGF10 Protein, Human (HEK293, Fc) Q96KG7-1 (L26-G857) ≥95%
HY-P76491 MEGF10 Protein, Human (HEK293, His) Q96KG7-1 (L26-G857) ≥95%

关联疾病

疾病名称 别名
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset

EMARDD

Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant

Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome

Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia

Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Myopathy

Muscular Diseases

Myopathies
Scoliosis
Rhabdomyolysis-Myalgia Syndrome
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
Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Cortical Dysplasia, Complex, With Other Brain Malformations 6

Complex Cortical Dysplasia With Other Brain Malformations 6

CDCBM6

Cdcbm56

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6
Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2
Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion
Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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-RS08314 MEGF10 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18007 Megf10 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24480 Megf10 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MEGF10 VGNC VGNC:74617
Bos taurus MEGF10 VGNC VGNC:31375
Canis familiaris MEGF10 VGNC VGNC:43147
Felis catus MEGF10 VGNC VGNC:102255
Mus musculus MEGF10 MGD MGI:2685177
Rattus norvegicus MEGF10 RGD RGD:735084
Others MEGF10 NCBI
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