InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BMPER

Summary

InnateDB Protein

IDBP-11996.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BMPER

Protein Name

BMP binding endothelial regulator

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000297161

InnateDB Gene

IDBG-11994 (BMPER)

Protein Structure

UniProt Annotation

Function

Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes. {ECO:0000269PubMed:14766204}.

Subcellular Localization

Secreted {ECO:0000269PubMed:14766204}.

Disease Associations

Diaphanospondylodysostosis (DSD) [MIM:608022]: A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. {ECO:0000269PubMed:20869035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in lung, and brain and also in primary chondrocytes. {ECO:0000269PubMed:14766204}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001657	ureteric bud development
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:0010594	regulation of endothelial cell migration
GO:0030514	negative regulation of BMP signaling pathway
GO:0042118	endothelial cell activation
GO:0048839	inner ear development
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation
GO:0070374	positive regulation of ERK1 and ERK2 cascade

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space

Protein Structure and Domains

PDB ID

InterPro

IPR001007 von Willebrand factor, type C
IPR001846 von Willebrand factor, type D domain
IPR002919 Trypsin Inhibitor-like, cysteine rich domain
IPR014853 Uncharacterised domain, cysteine-rich

PFAM

PF00093
PF00094
PF01826
PF08742

PRINTS

PIRSF

SMART

SM00214
SM00216
SM00832

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8N8U9