1. Gene
  2. BMPER - BMP binding endothelial regulator Gene

BMPER - BMP binding endothelial regulator Gene

中文名称:BMP 结合内皮调节因子

种属: Homo sapiens

同用名: CV2; CV-2; CRIM3

基因 ID: 168667 | 基因类型: protein coding

关于 BMPER

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,904,915-34,156,427 (from NCBI)

This gene has 28 transcripts (splice variants), 212 orthologues, 19 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 4.5), brain (RPKM 3.2) and 19 other tissues.

功能概要

该基因编码一种分泌蛋白,该蛋白与骨形态发生蛋白 (BMP) 功能相互作用并抑制其功能。它已被证明可以抑制 BMP2 和 BMP4 依赖性成骨细胞分化和 BMP 依赖性软骨细胞分化。该基因的突变与致命的骨骼疾病,即透椎骨发育不良有关。[RefSeq 提供,2011 年 12 月]

This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]

BMPER 基因产物(3)

mRNA Protein Name
NM_001365308.1 NP_001352237.1 BMP-binding endothelial regulator protein isoform a precursor
NM_001410872.1 NP_001397801.1 BMP-binding endothelial regulator protein isoform b
NM_133468.5 NP_597725.1 BMP-binding endothelial regulator protein isoform a precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
IDA: 通过直接分析推断
18787191 GOA
involved in endothelial cell activation IDA
IDA: 通过直接分析推断
18787191 GOA
involved in positive regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
18787191 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: 通过直接分析推断
18787191 GOA
involved in positive regulation of sprouting angiogenesis IGI
IGI: 通过遗传相互作用推断
28124060 GOA
involved in regulation of endothelial cell migration IDA
IDA: 通过直接分析推断
18787191 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
18787191 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

BMPER 蛋白结构

VWC

VWC: von Willebrand factor type C domain (166 - 224)

VWC

VWC: von Willebrand factor type C domain (301 - 357)

VWD

VWD: von Willebrand factor type D domain (364 - 509)

C8

C8: C8 domain (555 - 625)

TIL

TIL: Trypsin Inhibitor like cysteine rich domain (629 - 682)

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

BMP-binding endothelial regulator protein

BMP-binding endothelial regulator precursor protein

关联疾病

疾病名称 别名
Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests

DSD

Defect In Vertebral Ossification With Nephrogenic Rests

Ischiovertebral Syndrome

Ischiospinal Dysostosis

Ischiovertebral Dysplasia

Bardet-Biedl Syndrome 9

BBS9

Bardet-Biedl Syndrome, Type 9

Anomalous Left Coronary Artery From The Pulmonary Artery

Bland White Garland Syndrome

Alcapa

Bland-White-Garland Syndrome

White-Garland 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
Mus musculus BMPER MGD MGI:1920480
Canis familiaris BMPER VGNC VGNC:38483
Macaca mulatta BMPER VGNC VGNC:70370
Rattus norvegicus BMPER RGD RGD:1563373
Bos taurus BMPER VGNC VGNC:26523
Felis catus BMPER VGNC VGNC:60136