BMPER

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]

Full Name

BMP Binding Endothelial Regulator

Function

Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.

Biological Process

Blood vessel development Source: GO_Central
Blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: BHF-UCL
Endothelial cell activation Source: BHF-UCL
Inner ear development Source: Ensembl
Negative regulation of BMP signaling pathway Source: BHF-UCL
Positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
Positive regulation of sprouting angiogenesis Source: BHF-UCL
Regulation of angiogenesis Source: GO_Central
Regulation of endothelial cell migration Source: BHF-UCL
Regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
Ureteric bud development Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Diaphanospondylodysostosis (DSD): A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.