ADAMTSL2 - ADAMTS like 2 Gene

中文名称：亚当斯样 2

种属: Homo sapiens

同用名: GPHYSD1; ADAMTSL-2

基因 ID: 9719 | 基因类型: protein coding

关于 ADAMTSL2

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,532,164-133,575,519 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 10.4), adrenal (RPKM 9.6) and 18 other tissues.

功能概要

该基因编码 ADAMTS (一种具有血小板反应蛋白基序的去整合素和金属蛋白酶) 和 ADAMTS 样蛋白家族的成员。该家族的成员共享几个不同的蛋白质模块，包括前肽区域、金属蛋白酶结构域、解整合素样结构域和 1 型血小板反应蛋白 (TS) 基序。这个家族的个别成员在 C 端 TS 基序的数量上有所不同，有些成员具有独特的 C 端结构域。由该基因编码的蛋白质缺少蛋白酶结构域，因此属于 ADAMTS 样蛋白质亚家族的成员。它是一种结合细胞表面和细胞外基质的分泌型糖蛋白；它还与潜在的转化生长因子 β 结合蛋白 1 相互作用。该基因的突变与地球物理发育不良有关。[RefSeq 提供，2009 年 2 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

ADAMTSL2 基因产物(2)

mRNA	Protein	Name
NM_001145320.2	NP_001138792.1	ADAMTS-like protein 2 precursor
NM_014694.4	NP_055509.2	ADAMTS-like protein 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	18677313	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: 通过突变表型推断	18677313	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

ADAMTSL2 蛋白结构

TSP_1

ADAM_spacer1

TSP_1

PLAC

0
200
400
600
800
951 a.a.

蛋白主名

其他名称

ADAMTS-like protein 2

关联疾病

疾病名称

别名

Geleophysic Dysplasia 1

GPHYSD1	Geleophysic Dwarfism
Geleophysic Dysplasia

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Ehlers-Danlos Syndrome, Dermatosparaxis Type

Dermatosparaxis	EDSDERMS
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive	Eds Viic
Eds7c	Ehlers-Danlos Syndrome Dermatosparaxis Type
Dermatosparaxis Ehlers-Danlos Syndrome	Dermatosparaxis Eds
Ehlers-Danlos Syndrome Type 7c	Deds
Human Dermatosparaxis Eds Viic	Ehlers-Danlos Syndrome 7c
Ehlers-Danlos Syndrome, Type Viic

Tracheal Stenosis

Stenosis Of Trachea

Tracheal Disease

Tracheal Diseases	Tracheal Anomaly
Tracheal Disorders

Geleophysic Dysplasia 2

GPHYSD2	Geleophysic Dwarfism
Dysplasia, Geleophysic, Type 2	Geleophysic Dysplasia

Acromicric Dysplasia

ACMICD	Acromicric Skeletal Dysplasia
Dysplasia, Acromicric

Geleophysic Dysplasia 3

GPHYSD3

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Stiff Skin Syndrome

SSKS	Stiff Skin

Isolated Ectopia Lentis

Familial Ectopia Lentis	Ectopia Lentis
Ectopia Lentis Syndrome	Lens Subluxation
Iel	Congenital Ectopia Lentis
Subluxation Of Lens	Ectopia Lentis, Isolated
Ectopia Lentis Isolated

Weill-Marchesani Syndrome

Gemss Syndrome	Spherophakia-Brachymorphia Syndrome
Marchesani-Weill Syndrome	Wms
Congenital Mesodermal Dystrophy	Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome	Mesodermal Dysmorphodystrophy Congenital
Wm Syndrome	Brachydactyly-Spherophakia Syndrome
Brachymorphy With Spherophakia Syndrome	Congenital Mesodermal Dysmorphodystrophy
Marchesani Syndrome	Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Radial Nerve Lesion

Lesion Of Radial Nerve	Radial Nerve Lesions
Radial Neuropathy	Radial Nerve Mononeuritis

Accommodative Esotropia

Esotropia With Accommodative Compensation

Lens Subluxation

Subluxation Of Lens

Radial Neuropathy

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly	Beals Syndrome
CCA	Beals-Hecht Syndrome
Distal Arthrogryposis Type 9	Arthrogryposis, Distal, Type 9
Da9	Arachnodactyly, Contractural Beals Type
Contractures, Multiple With Arachnodactyly	Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis
Arthrogyroposis, Distal, Type 9	Distal Arthrogyropsis Type 9
Cca Syndrome	Arachnodactyly

Bone Development Disease

Winchester Syndrome

WNCHRS	Winchester Disease
Winchester-Grossman Syndrome

Scoliosis

Brachydactyly

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

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-RS00311	ADAMTSL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ADAMTSL2	RGD	RGD:1305459
Mus musculus	ADAMTSL2	MGD	MGI:1925044
Felis catus	ADAMTSL2	VGNC	VGNC:59600
Bos taurus	ADAMTSL2	VGNC	VGNC:25631
Macaca mulatta	ADAMTSL2	VGNC	VGNC:69399
Canis familiaris	ADAMTSL2	VGNC	VGNC:37607

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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）

ADAMTSL2 - ADAMTS like 2 Gene

关于 ADAMTSL2

功能概要

ADAMTSL2 基因产物(2)

ADAMTSL2 蛋白结构

关联疾病

直系同源

热门区域

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ADAMTSL2 - ADAMTS like 2 Gene

关于 ADAMTSL2

功能概要

ADAMTSL2 基因产物(2)

ADAMTSL2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z