BMPER - BMP binding endothelial regulator Gene

Homo sapiens

Also known as CV2; CV-2; CRIM3

Gene ID: 168667 | Gene type: protein coding

About BMPER

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,904,915-34,156,427 (from NCBI)

This gene has 28 transcripts (splice variants), 212 orthologues, 19 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 4.5), brain (RPKM 3.2) and 19 other tissues.

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]

BMPER Products(3)

mRNA	Protein	Name
NM_001365308.1	NP_001352237.1	BMP-binding endothelial regulator protein isoform a precursor
NM_001410872.1	NP_001397801.1	BMP-binding endothelial regulator protein isoform b
NM_133468.5	NP_597725.1	BMP-binding endothelial regulator protein isoform a precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA IDA: Inferred from direct assay	18787191	GOA
involved in endothelial cell activation	IDA IDA: Inferred from direct assay	18787191	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	18787191	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	18787191	GOA
involved in positive regulation of sprouting angiogenesis	IGI IGI: Inferred from genetic interaction	28124060	GOA
involved in regulation of endothelial cell migration	IDA IDA: Inferred from direct assay	18787191	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular space	IDA IDA: Inferred from direct assay	18787191	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BMPER Protein Structure

VWC

VWD

TIL

0
200
400
600
685 a.a.

Protein Preferred Names

Protein Names

BMP-binding endothelial regulator protein

BMP-binding endothelial regulator precursor protein

Related Diseases

Diseases

Alias

Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests	DSD
Defect In Vertebral Ossification With Nephrogenic Rests

Ischiovertebral Syndrome

Ischiospinal Dysostosis

Ischiovertebral Dysplasia

Bardet-Biedl Syndrome 9

BBS9	Bardet-Biedl Syndrome, Type 9

Anomalous Left Coronary Artery From The Pulmonary Artery

Bland White Garland Syndrome	Alcapa
Bland-White-Garland Syndrome	White-Garland Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01545	BMPER Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BMPER	MGD	MGI:1920480
Canis familiaris	BMPER	VGNC	VGNC:38483
Macaca mulatta	BMPER	VGNC	VGNC:70370
Rattus norvegicus	BMPER	RGD	RGD:1563373
Bos taurus	BMPER	VGNC	VGNC:26523
Felis catus	BMPER	VGNC	VGNC:60136

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