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Bmper Gene Detail
Summary
  • Symbol
    Bmper
  • Name
    BMP-binding endothelial regulator
  • Synonyms
    3110056H04Rik, Crim3, crossveinless-2, Cv2, CV-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920480
    NCBI Gene: 73230
  • Gene Overview
    MyGene.info: BMPER
Location & Maps
more
  • Sequence Map
    Chr9:23223076-23485202 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      262127 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BMPER, BMP binding endothelial regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BMPER, BMP binding endothelial regulator
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CRIM3, CV2, CV-2
  • Links
    NCBI Gene ID: 168667
    neXtProt AC: NX_Q8N8U9

  • Chr Location
    7p14.3; chr7:33904911-34155872 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 12494
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: BMPER
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human BMPER associations

Human Disease Mouse Models
       Diaphanospondylodysostosis   OMIM: 608022
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 4 alleles in 3 genetic backgrounds
    15 phenotypes from multigenic genotypes
    3 images
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out mutation exhibit neonatal lethality associated with abnormal lung and skeleton development. Mice heterozygous for a null allele exhibit abnromal lung development.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031963 Ensembl Gene Model | MGI Sequence Detail 262127 C57BL/6J ±  kb
transcript ENSMUST00000071982 Ensembl | MGI Sequence Detail 3793 Not Applicable  
polypeptide ENSMUSP00000071872 Ensembl | MGI Sequence Detail 685 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1176 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004775 BMP-binding endothelial regulator protein
  • InterPro Domains
    IPR030120 BMP-binding endothelial regulator protein
    IPR002919 Trypsin Inhibitor-like, cysteine rich domain
    IPR014853 Uncharacterised domain, cysteine-rich
    IPR001846 von Willebrand factor, type D domain
    IPR001007 VWFC domain
Molecular
Reagents
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  • All nucleic 21
    cDNA 20
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 49
    Developmental Gene Expression 22
    Gene Ontology 4
    Phenotypes 15
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:227274 Bloomquist RF, et al., Coevolutionary patterning of teeth and taste buds. Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):E5954-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory