ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

中文名称：具有 1 型血小板反应蛋白基序的 ADAM 金属肽酶 18

种属: Homo sapiens

同用名: KNO2; MMCAT; ADAMTS21

基因 ID: 170692 | 基因类型: protein coding

关于 ADAMTS18

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:77,282,128-77,435,034 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues, 25 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue.

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) 蛋白家族的成员。 ADAMTS 家族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。编码的前原蛋白经过蛋白水解处理以产生成熟蛋白，该蛋白可以调节止血平衡并起到肿瘤抑制因子的作用。该基因的突变可能与人类患者的小角膜、近视性脉络膜视网膜萎缩、远斜肌 (MMCAT) 和锥杆营养不良有关。[RefSeq 提供，2016 年 5 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]

ADAMTS18 基因产物(2)

mRNA	Protein	Name
NM_001326358.2	NP_001313287.1	A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 3
NM_199355.4	NP_955387.1	A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein

基因本体论

生物过程

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in eye development	IMP IMP: 通过突变表型推断	23818446	GOA
acts upstream of or within negative regulation of platelet aggregation	IDA IDA: 通过直接分析推断	19218546	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

ADAMTS18 蛋白结构

Pep_M12B_propep

Reprolysin

TSP_1

ADAM_spacer1

TSP_1

PLAC

0
200
400
600
800
1000
1221 a.a.

蛋白主名

其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 18

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18

关联疾病

疾病名称

别名

Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus

MMCAT	Microcornea-Myopic Chorioretinal Atrophy-Telecanthus Syndrome
Mmcat Syndrome	Microcornea, Myopic Chorioretinal Atrophy And Telecanthus

Telecanthus

Knobloch Syndrome

Knobloch-Layer Syndrome	Retinal Detachment-Occipital Encephalocele Syndrome
Myopia Retinal Detachment Encephalocele	Retinal Detachment And Occipital Encephalocele

Hemometra

Hematometra

Scheuermann Disease

Scheuermann'S Disease	Spinal Osteochondrosis
Juvenile Osteochondrosis Of Spine	Familial Scheuermann Disease
Familial Scheuermann Juvenile Kyphosis	Familial Spinal Osteochondrosis
Scheuermann Juvenile Kyphosis	Juvenile Osteochondritis Of The Spine
Juvenile Osteochondrosis Of Scheurermann	Scheuermann'S Kyphosis
Sherman'S Disease	Juvenile Kyphosis
Scheuermann Kyphosis	[X]Spinal Osteochondrosis, Unspecified

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

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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-RS00299	ADAMTS18 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	ADAMTS18	VGNC	VGNC:59591
Rattus norvegicus	ADAMTS18	RGD	RGD:1560118
Mus musculus	ADAMTS18	MGD	MGI:2442600
Canis familiaris	ADAMTS18	VGNC	VGNC:37596
Bos taurus	ADAMTS18	VGNC	VGNC:25622
Macaca mulatta	ADAMTS18	VGNC	VGNC:69442
Others	ADAMTS18	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）

ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

关于 ADAMTS18

功能概要

ADAMTS18 基因产物(2)

ADAMTS18 蛋白结构

关联疾病

直系同源

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ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

关于 ADAMTS18

功能概要

ADAMTS18 基因产物(2)

ADAMTS18 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