2. Gene
  3. VWA2 - von Willebrand factor A domain containing 2 Gene

VWA2 - von Willebrand factor A domain containing 2 Gene

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

中文名称：含 von Willebrand 因子 A 结构域 2

种属: Homo sapiens

同用名: AMACO; CCSP2; NET42; CCSP-2

基因 ID: 340706 | 基因类型: protein coding

关于 VWA2

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:114,239,254-114,294,500 (from NCBI)

This gene has 3 transcripts (splice variants), 179 orthologues and 12 paralogues. Broad expression in stomach (RPKM 3.7), prostate (RPKM 3.3) and 18 other tissues.

功能概要

该基因编码 von Willebrand 因子 A 样域蛋白超家族的成员。编码的蛋白质定位于细胞外基质，可作为基底膜中的结构成分或胶原蛋白 VII 或原纤维蛋白支架上的锚定结构。该基因与 1A 型糖尿病有关，是结肠癌的候选血清学标志物。[RefSeq 提供，2013 年 1 月]

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon Cancer. [provided by RefSeq, Jan 2013]

VWA2 基因产物(2)

mRNA Protein Name
NM_001272046.2 NP_001258975.1 von Willebrand factor A domain-containing protein 2 precursor
NM_001320804.1 NP_001307733.1 von Willebrand factor A domain-containing protein 2 precursor
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 identical protein binding IDA
IDA: 通过直接分析推断
14506275 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of insulin receptor signaling pathway IMP
IMP: 通过突变表型推断
15699509 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
14506275 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

VWA2 蛋白结构

VWA

VWA: von Willebrand factor type A domain (51 - 208)

EGF

EGF: EGF-like domain (299 - 325)

VWA

VWA: von Willebrand factor type A domain (343 - 510)

VWA

VWA: von Willebrand factor type A domain (531 - 690)

EGF

EGF: EGF-like domain (716 - 746)

  • 0
  • 200
  • 400
  • 600
  • 755 a.a.
蛋白主名 其他名称

von Willebrand factor A domain-containing protein 2

a domain-containing protein similar to matrilin and collagen

VWA2 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
VWA2 Q5GFL6 TRAF2 Homo sapiens Q12933
Validated Y2H
25416956
种属内
VWA2 Q5GFL6 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
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
Vesicoureteral Reflux

Vesico-Ureteral Reflux
Type 1 Diabetes Mellitus 17

Diabetes Mellitus, Insulin-Dependent, 17

Iddm17

Insulin-Dependent Diabetes Mellitus 17

TID17

Insulin-Dependent Diabetes Mellitus-17
Type 1 Diabetes Mellitus 7

Diabetes Mellitus, Insulin-Dependent, 7

Iddm7

Insulin-Dependent Diabetes Mellitus 7

T1D7
Inflammatory Bowel Disease 13

IBD13

Bowel Disease, Inflammatory, Type 13
Kummell'S Disease

Traumatic Spondylopathy

Kummell Disease

Kummell'S Spondylitis

Kümmelll-Verneuil Disease

Kümmell Spondylitis

Kümmell Disease

Traumatic Spondylosis
Deafness, Autosomal Recessive 103

DFNB103

Autosomal Recessive Nonsyndromic Deafness 103

Autosomal Recessive Deafness 103

Deafness, Autosomal Recessive, 103

Deafness, Autosomal Recessive, Type 103
Colon Adenoma

Adenomatous Polyp Of Colon
Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]
Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos
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-RS15726 VWA2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris VWA2 VGNC VGNC:48319
Bos taurus VWA2 VGNC VGNC:36851
Rattus norvegicus VWA2 RGD RGD:1562000
Mus musculus VWA2 MGD MGI:2684334
Macaca mulatta VWA2 VGNC VGNC:79449
Felis catus VWA2 VGNC VGNC:82515
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