1. Gene
  2. BMPER - BMP binding endothelial regulator Gene

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

BMPER Protein Structure

VWC

VWC: von Willebrand factor type C domain (166 - 224)

VWC

VWC: von Willebrand factor type C domain (301 - 357)

VWD

VWD: von Willebrand factor type D domain (364 - 509)

C8

C8: C8 domain (555 - 625)

TIL

TIL: Trypsin Inhibitor like cysteine rich domain (629 - 682)

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  • 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

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