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

    Gene ID: 73230, updated on 27-Nov-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
    NEW
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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
    • 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)