2. Gene
  3. ADAMTS19 - ADAM metallopeptidase with thrombospondin type 1 motif 19 Gene

ADAMTS19 - ADAM metallopeptidase with thrombospondin type 1 motif 19 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 19

种属: Homo sapiens

同用名: CVDP2

基因 ID: 171019 | 基因类型: protein coding

关于 ADAMTS19

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:129,460,298-129,738,683 (from NCBI)

This gene has 4 transcripts (splice variants), 139 orthologues and 25 paralogues. Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 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) 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。该基因编码的蛋白质与另一个家族成员 ADAMTS16 编码的蛋白质具有高度序列相似性。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]

ADAMTS19 基因产物(1)

mRNA Protein Name
NM_133638.6 NP_598377.4 A disintegrin and metalloproteinase with thrombospondin motifs 19
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 aortic valve morphogenesis IMP
IMP: 通过突变表型推断
31844321 GOA
involved in mitral valve morphogenesis IMP
IMP: 通过突变表型推断
31844321 GOA
involved in pulmonary valve morphogenesis IMP
IMP: 通过突变表型推断
32323311 GOA
involved in tricuspid valve morphogenesis IMP
IMP: 通过突变表型推断
32323311 GOA
involved in ventricular septum morphogenesis IMP
IMP: 通过突变表型推断
32323311 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

ADAMTS19 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (157 - 273)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (327 - 543)

TSP_1

TSP_1: Thrombospondin type 1 domain (638 - 685)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (790 - 900)

TSP_1

TSP_1: Thrombospondin type 1 domain (983 - 1036)

TSP_1

TSP_1: Thrombospondin type 1 domain (1044 - 1088)

TSP_1

TSP_1: Thrombospondin type 1 domain (1094 - 1143)

PLAC

PLAC: PLAC (protease and lacunin) domain (1163 - 1196)

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  • 1207 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 19

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

关联疾病

疾病名称 别名
Cardiac Valvular Dysplasia 2

CVDP2
Discrete Subaortic Stenosis
Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis

Subaortic Stenosis

Aortic Stenosis, Subvalvular
Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome
Nanophthalmos

Nanophthalmia
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
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos
Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00300 ADAMTS19 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19846 Adamts19 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26344 Adamts19 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ADAMTS19 VGNC VGNC:102153
Mus musculus ADAMTS19 MGD MGI:2442875
Bos taurus ADAMTS19 VGNC VGNC:25623
Rattus norvegicus ADAMTS19 RGD RGD:1308359
Macaca mulatta ADAMTS19 VGNC VGNC:110490
Canis familiaris ADAMTS19 VGNC VGNC:37597
Others ADAMTS19 NCBI
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