UniProt Protein Function: | BMPER: Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes. Defects in BMPER are the cause of 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.Protein type: Secreted, signal peptide; Inhibitor; SecretedChromosomal Location of Human Ortholog: 7p14.3Cellular Component: extracellular spaceBiological Process: blood vessel endothelial cell proliferation during sprouting angiogenesis; endothelial cell activation; negative regulation of BMP signaling pathwayDisease: Diaphanospondylodysostosis |
UniProt Protein Details: | |
NCBI Summary: | 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] |
UniProt Code: | Q8N8U9 |
NCBI GenInfo Identifier: | 116241270 |
NCBI Gene ID: | 168667 |
NCBI Accession: | Q8N8U9.3 |
UniProt Secondary Accession: | Q8N8U9,Q8TF36, A8K1P8 |
UniProt Related Accession: | Q8N8U9 |
Molecular Weight: | 75,997 Da |
NCBI Full Name: | BMP-binding endothelial regulator protein |
NCBI Synonym Full Names: | BMP binding endothelial regulator |
NCBI Official Symbol: | BMPERÂ Â |
NCBI Official Synonym Symbols: | CV2; CV-2; CRIM3Â Â |
NCBI Protein Information: | BMP-binding endothelial regulator protein |
UniProt Protein Name: | BMP-binding endothelial regulator protein |
UniProt Synonym Protein Names: | Bone morphogenetic protein-binding endothelial cell precursor-derived regulator; Protein crossveinless-2; hCV2 |
Protein Family: | BMP-binding endothelial regulator protein |
UniProt Gene Name: | BMPERÂ Â |
UniProt Entry Name: | BMPER_HUMAN |