MEGF8 - multiple EGF like domains 8 Gene

中文名称：多个 EGF 样结构域 8

种属: Homo sapiens

同用名: SBP1; CRPT2; EGFL4; C19orf49

基因 ID: 1954 | 基因类型: protein coding

关于 MEGF8

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,325,635-42,378,765 (from NCBI)

This gene has 7 transcripts (splice variants), 179 orthologues, 27 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.9), fat (RPKM 6.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种功能未知的单程 I 型膜蛋白，包含多个 EGF 样结构域、Kelch 重复序列和 PSI 结构域。该基因的缺陷是 Carpenter 综合征 2 的一个原因。已发现该基因的两种编码不同亚型的转录物变体。[RefSeq 提供，2012 年 12 月]

The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

MEGF8 基因产物(2)

mRNA	Protein	Name
NM_001271938.2	NP_001258867.1	multiple epidermal growth factor-like domains protein 8 isoform 1 precursor
NM_001410.3	NP_001401.2	multiple epidermal growth factor-like domains protein 8 isoform 2 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
enables protein binding	IPI IPI: 通过物理相互作用推断	21078624	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cell migration involved in gastrulation	IMP IMP: 通过突变表型推断	23063620	GOA
involved in craniofacial suture morphogenesis	IMP IMP: 通过突变表型推断	23063620	GOA
involved in determination of heart left/right asymmetry	IMP IMP: 通过突变表型推断	23063620	GOA
involved in epiboly involved in gastrulation with mouth forming second	IMP IMP: 通过突变表型推断	23063620	GOA
involved in left/right pattern formation	IMP IMP: 通过突变表型推断	23063620	GOA
involved in limb morphogenesis	IMP IMP: 通过突变表型推断	23063620	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

MEGF8 蛋白结构

CUB

Kelch_4

PSI

EGF_CA

Laminin_EGF

Kelch_4

Laminin_EGF

0
500
1000
1500
2000
2500
2845 a.a.

蛋白主名

其他名称

multiple epidermal growth factor-like domains protein 8

EGF-like domain-containing protein 4

MEGF8 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	MEGF8	Q7Z7M0	ATXN7	Homo sapiens	O15265	Pull Down	21078624

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Carpenter Syndrome 2

CRPT2

Carpenter Syndrome, Type 2

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Carpenter Syndrome 1

Carpenter Syndrome	Acrocephalopolysyndactyly Type Ii
Acps Ii	CRPT1
Acrocephalopolysyndactyly Type 2	Acrocephalosyndactyly, Type Ii
Acrocephalopolysyndactyly 2	Acps2
Acps 2	Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1	Apert-Crouzon Disease

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Umbilical Hernia

Hernia, Umbilical

Simpson-Golabi-Behmel Syndrome, Type 1

Simpson-Golabi-Behmel Syndrome Type 1	Simpson-Golabi-Behmel Syndrome
SGBS1	Golabi-Rosen Syndrome
Simpson Dysmorphia Syndrome	Sgbs
Bulldog Syndrome	Dgsx
Sdys	Dysplasia Gigantism Syndrome, X-Linked
X-Linked Dysplasia Gigantism Syndrome	Dgsx Golabi-Rosen Syndrome
Sara Angers Syndrome	Sgb Syndrome
Mental Retardation-Overgrowth Syndrome	Simpson Dysplasia Syndrome
Simpson Syndrome	Simpson-Golabi-Behmel Syndrome 1
Dysplasia Gigantism Syndrome X-Linked

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

Prostate Small Cell Carcinoma

Small Cell Carcinoma Of Prostate

Prostate Oat Cell Carcinoma

Apert Syndrome

Acrocephalosyndactyly Type I	Acs1
Acrocephalosyndactylia	Acrocephalosyndactyly
Acs I	Apert-Crouzon Disease
Acrocephalosyndactyly Type 1	Acrocephalosyndactyly, Type I
Acs 1	Acrocephalo-Syndactyly Type 1
Syndactylic Oxycephaly	Apert'S Syndrome
Type I Acrocephalosyndactyly	APRS

Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency	Familial Apoc2 Deficiency
C-Ii Anapolipoproteinemia	Hyperlipoproteinemia, Type 1b
Hyperlipoproteinemia, Type Ib	Hyperlipoproteinemia Type I

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08317	MEGF8 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	MEGF8	VGNC	VGNC:63445
Mus musculus	MEGF8	MGD	MGI:2446294
Macaca mulatta	MEGF8	VGNC	VGNC:74630
Canis familiaris	MEGF8	VGNC	VGNC:43148
Rattus norvegicus	MEGF8	RGD	RGD:621190
Bos taurus	MEGF8	VGNC	VGNC:31376
Others	MEGF8	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MEGF8 - multiple EGF like domains 8 Gene

关于 MEGF8

功能概要

MEGF8 基因产物(2)

MEGF8 蛋白结构

MEGF8 蛋白互作信息

关联疾病

直系同源

热门区域

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MEGF8 - multiple EGF like domains 8 Gene

关于 MEGF8

功能概要

MEGF8 基因产物(2)

MEGF8 蛋白结构

MEGF8 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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