ARMS2 - age-related maculopathy susceptibility 2 Gene

中文名称：年龄相关性黄斑病易感性 2

种属: Homo sapiens

同用名: ARMD8

基因 ID: 387715 | 基因类型: protein coding

关于 ARMS2

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:122,454,653-122,457,352 (from NCBI)

This gene has 1 transcript (splice variant), 9 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.0), placenta (RPKM 1.0) and 6 other tissues.

功能概要

该基因编码一种灵长类动物特有的小分泌蛋白。这种蛋白质是眼睛脉络膜细胞外基质的组成部分。该基因的突变与年龄相关性黄斑变性有关。[RefSeq 提供，2017 年 9 月]

This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]

ARMS2 基因产物(1)

mRNA	Protein	Name
NM_001099667.3	NP_001093137.1	age-related maculopathy susceptibility protein 2

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	19696174	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in retina homeostasis	IMP IMP: 通过突变表型推断	18511946	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	18511946	GOA
located in photoreceptor inner segment	IDA IDA: 通过直接分析推断	18511946	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

蛋白主名

其他名称

age-related maculopathy susceptibility protein 2

ARMS2 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
种属内	ARMS2	P0C7Q2	HMCN1	Homo sapiens	Q96RW7	Pull Down	19696174
种属内	ARMS2	P0C7Q2	HMCN1	Homo sapiens	Q96RW7	Anti Tag CoIP	19696174
种属内	ARMS2	P0C7Q2	CFP	Homo sapiens	P27918	ELISA	28086806

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

Macular Degeneration, Age-Related, 8

Age Related Macular Degeneration 8	ARMD8
Macular Degeneration, Age-Related, Type 8

Retinal Drusen

Central Serous Chorioretinopathy

Central Serous Chorioretinopathy After Bone Marrow Transplantation	Central Serous Choroidopathy
Cscr	Central Serous Retinopathy
Central Serous Choroidoretinopathy

Choroiditis

Posterior Uveitis

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Kuhnt-Junius Degeneration

Neovascular Age-Related Macular Degeneration	Exudative Senile Macular Degeneration Of Retina
Senile Macular Degeneration, Wet	Wet Senile Macular Retinal Degeneration
Exudative Age-Related Macular Degeneration	Exudative Macular Degeneration

Histoplasmosis

Darling Disease	Reticuloendotheliosis, X-Linked
Infection By Histoplasma Capsulatum	Histoplasma Infection
Reticuloendothelial Cytomycosis	Cytomycosis
Darling Histoplasmosis	African Histoplasmosis
Histoplasmosis Duboisii

Basal Laminar Drusen

Drusen Of Bruch Membrane	Drusen, Cuticular
Drusen, Early Adult-Onset, Grouped	Cuticular Drusen
Early Adult-Onset Grouped Drusen	BLD
Drusen Cuticular	Drusen Early Adult-Onset Grouped

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina	Degeneration Of Macula Or Posterior Pole
Macular Degeneration Nos	Degenerative Disorder Of Macula
Drusen Macular Degeneration	Posterior Pole Macular Degeneration Of Eye
Macular Eye Degeneration	Macular Degeneration Of Retina, Unspecified
Pseudohole Degeneration Of Macula Of Retina

Retinal Detachment

Retinal Detachments	Rhegmatogenous Retinal Detachment
Ruptured Retina With Detachment	Retinal Hole With Detachment

Sorsby Fundus Dystrophy

SFD	Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Sorsby'S Fundus Dystrophy	Macular Dystrophy, Hemorrhagic
Hemorrhagic Macular Dystrophy	Pseudoinflammatory Fundus Dystrophy Of Sorsby
Sorsby'S Pseudoinflammatory Macular Dystrophy	Sorsby Pseudoinflammatory Fundus Dystrophy
Dystrophy, Fundus, Sorsby

Eye Degenerative Disease

Angioid Streaks

Toxic Maculopathy

Toxic Maculopathy Of Retina

Degenerative Myopia

Pathological Myopia	Myopia, Degenerative
Degenerative Progressive High Myopia	Progressive High Myopia
Progressive High Myopia

Doyne Honeycomb Retinal Dystrophy

DHRD	Doyne Honeycomb Degeneration Of Retina
Dhd	Malattia Leventinese
Ml	Mlvt
Dystrophy, Retinal, Doyne Honeycomb

Ocular Hyperemia

Hyperemia Eye

Hyperemia Of Conjunctiva

Retinal Disease

Retinal Diseases	Retinal Disorder
Retinal Disorders

Complement Component 2 Deficiency

C2D	C2 Deficiency
Complement 2 Deficiency	Complement Component-2

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Lens Disease

Lens Diseases

Refractive Error

Refractive Errors

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Sensory System Disease

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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ARMS2 - age-related maculopathy susceptibility 2 Gene

关于 ARMS2

功能概要

ARMS2 基因产物(1)

ARMS2 蛋白互作信息

关联疾病

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ARMS2 - age-related maculopathy susceptibility 2 Gene

关于 ARMS2

功能概要

ARMS2 基因产物(1)

ARMS2 蛋白互作信息

关联疾病

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热门区域

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C

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G

H

J

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N

Q

S

T

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Y

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