BMPER gene

BMP binding endothelial regulator

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Diaphanospondylodysostosis

From UniProt:

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. [MIM:608022]

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3

Molecular Location: base pairs 33,904,911 to 34,155,872 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3
  • CRIM3
  • CV-2
  • CV2