BMPER BMP binding endothelial regulator

Gene ID: 168667, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CV2; CV-2; CRIM3

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. GeneReviews: Not available
Diaphanospondylodysostosis MedGen: C1842691OMIM: 608022GeneReviews: Not available	See labs

Genomic context

Location:: 7p14.3

Sequence:: Chromosome: 7; NC_000007.14 (33904915..34156427)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BMPER variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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