Gene: BMPER

Alternate names for this Gene: CRIM3|CV-2|CV2

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: BMP binding endothelial regulator

Type of Gene: protein-coding

rs17169634 in BMPER gene and Alzheimer's Disease PMID 24770881 2014 ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.

rs1554300601 in BMPER gene and Diaphanospondylodysostosis PMID 30006055 2019 Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

PMID 20869035 2010 BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

rs74629737 in BMPER gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs6952495 in BMPER gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.