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Bmper BMP-binding endothelial regulator [ Mus musculus (house mouse) ]

Gene ID: 73230, updated on 28-Oct-2024

Summary

Official Symbol
Bmperprovided by MGI
Official Full Name
BMP-binding endothelial regulatorprovided by MGI
Primary source
MGI:MGI:1920480
See related
Ensembl:ENSMUSG00000031963 AllianceGenome:MGI:1920480
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cv2; CV-2; Crim3; 3110056H04Rik
Summary
This gene encodes a secreted protein that contains five Von Willebrand factor type C domains and a Von Willebrand factor type D domain and a trypsin inhibitory-like domain. The encoded protein binds to bone morphogenetic proteins (BMP) and regulates their activity. Mutation of the related gene in humans causes diaphanospondylodysostosis. [provided by RefSeq, Mar 2013]
Expression
Broad expression in lung adult (RPKM 4.5), limb E14.5 (RPKM 4.1) and 20 other tissues See more
Orthologs
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Genomic context

See Bmper in Genome Data Viewer
Location:
9 A3; 9 9.55 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (23134372..23396511)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (23223076..23485215)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1296 Neighboring gene STARR-seq mESC enhancer starr_23566 Neighboring gene predicted gene, 36685 Neighboring gene STARR-seq mESC enhancer starr_23567 Neighboring gene predicted gene, 36743 Neighboring gene VISTA enhancer mm1696 Neighboring gene STARR-seq mESC enhancer starr_23569 Neighboring gene STARR-seq mESC enhancer starr_23570 Neighboring gene STARR-seq mESC enhancer starr_23571 Neighboring gene predicted gene, 57546 Neighboring gene STARR-seq mESC enhancer starr_23573 Neighboring gene STARR-seq mESC enhancer starr_23575 Neighboring gene predicted gene, 39311 Neighboring gene STARR-seq mESC enhancer starr_23576 Neighboring gene ribosomal protein L7A pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (4)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in endothelial cell activation IEA
Inferred from Electronic Annotation
more info
 
involved_in endothelial cell activation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within inner ear development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of sprouting angiogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of endothelial cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ureteric bud development IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
BMP-binding endothelial regulator protein
Names
bone morphogenetic protein-binding endothelial cell precursor-derived regulator
crossveinless-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_028472.2NP_082748.1  BMP-binding endothelial regulator protein precursor

    See identical proteins and their annotated locations for NP_082748.1

    Status: REVIEWED

    Source sequence(s)
    AC154737, AF454954
    Consensus CDS
    CCDS22929.1
    UniProtKB/Swiss-Prot
    Q7TN57, Q80UZ1, Q8CJ69, Q9CXM8
    Related
    ENSMUSP00000071872.6, ENSMUST00000071982.7
    Conserved Domains (5) summary
    pfam00093
    Location:166224
    VWC; von Willebrand factor type C domain
    pfam00094
    Location:364508
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:629682
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:556624
    C8; C8 domain
    cl17735
    Location:301357
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    23134372..23396511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)