2. Gene
  3. ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

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

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

ADAMTS18 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (62 - 203)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (295 - 498)

TSP_1

TSP_1: Thrombospondin type 1 domain (593 - 643)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (750 - 861)

TSP_1

TSP_1: Thrombospondin type 1 domain (938 - 991)

TSP_1

TSP_1: Thrombospondin type 1 domain (998 - 1021)

TSP_1

TSP_1: Thrombospondin type 1 domain (1059 - 1087)

TSP_1

TSP_1: Thrombospondin type 1 domain (1131 - 1177)

PLAC

PLAC: PLAC (protease and lacunin) domain (1187 - 1219)

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  • 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
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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