Bone Morphogenetic Protein-Binding Endothelial Regulator Protein

Alternative Names

BMPER
Bmp-Binding Endothelial Cell Precursor-Derived Regulator
Crossveinless 2, Drosophila, Homolog of
CV2

Length

251,513 bases

No. of Exons

Protein Name

BMP-binding endothelial regulator protein

Molecular Mass

75997 Da

Amino Acid Count

685

Genomic Location

chr7:33,904,915-34,156,427

Gene Map Locus

7p14.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_133468.5:c.712T>G	Saudi Arabia	NC_000007.14:g.34051896T>G		Likely Pathogenic	Diaphanospondylodysostosis	NG_031933.1:g.151986T>G; NM_133468.5:c.712T>G; NP_597725.1:p.Cys238Gly

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPER

Contributors

Asha Deepthi: 26.12.2024

Edit History

Asha Deepthi: 26.12.2024

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