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  2. RSPO3 - R-spondin 3 Gene

RSPO3 - R-spondin 3 Gene

中文名称:R-spondin 3

种属: Homo sapiens

同用名: PWTSR; THSD2; CRISTIN1

基因 ID: 84870 | 基因类型: protein coding

关于 RSPO3

Cytogenetic location: 6q22.33 Genomic coordinates (GRCh38): 6:127,118,671-127,199,481 (from NCBI)

This gene has 3 transcripts (splice variants), 242 orthologues, 3 paralogues and is associated with 61 phenotypes. Broad expression in endometrium (RPKM 18.7), placenta (RPKM 8.3) and 14 other tissues.

功能概要

该基因属于 R-spondin 家族。编码的蛋白质在 Wnt (无翼型 MMTV 整合位点家族) /β-连环蛋白和 Wnt/平面细胞极性 (PCP) 信号通路的调控中发挥作用,这些信号通路参与发育、细胞生长和疾病发病机制。全基因组关联研究表明该基因与骨矿物质密度和骨折风险相关。该基因可能参与肿瘤的发展。[RefSeq 提供,2013 年 7 月]

This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]

RSPO3 基因产物(1)

mRNA Protein Name
NM_032784.5 NP_116173.2 R-spondin-3 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 signaling receptor binding IPI
IPI: 通过物理相互作用推断
22615920 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of Wnt signaling pathway IDA
IDA: 通过直接分析推断
29769720 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

RSPO3 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (151 - 202)

  • 0
  • 100
  • 200
  • 272 a.a.
蛋白主名 其他名称

R-spondin-3

R-spondin 3 homolog

重组 RSPO3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70557 RSPO3/R-spondin-3 Protein, Human (HEK293, Fc-His) Q9BXY4-1 (Q22-V201) ≥95%
HY-P700262 R-spondin 3 Protein, Human (HEK293, His) Q9BXY4-1 (Q22-V146) ≥95%

关联疾病

疾病名称 别名
Tetraamelia Syndrome

Tetra-Amelia Syndrome

Tetraamelia-Multiple Malformations Syndrome

Tetra-Amelia

Tetra-Amelia, Autosomal Recessive

Tetraamelia, Autosomal Recessive

Total Amelia

Zimmer Phocomelia

Tetams

Zimmer Taub Sova Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RSPO3 RGD RGD:1563246
Felis catus RSPO3 VGNC VGNC:64798
Bos taurus RSPO3 VGNC VGNC:106906
Mus musculus RSPO3 MGD MGI:1920030
Canis familiaris RSPO3 VGNC VGNC:49764
Macaca mulatta RSPO3 VGNC VGNC:77066
Others RSPO3 NCBI