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Bmpr1b Gene Detail
Summary
  • Symbol
    Bmpr1b
  • Name
    bone morphogenetic protein receptor, type 1B
  • Synonyms
    Acvrlk6, Alk6, BMPR-IB, CFK-43a
  • Feature Type
    protein coding gene
  • IDs
    MGI:107191
    NCBI Gene: 12167
  • Gene Overview
    MyGene.info: BMPR1B
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:141837136-142169425 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      332290 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 66.11 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    BMPR1B, bone morphogenetic protein receptor type 1B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BMPR1B, bone morphogenetic protein receptor type 1B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALK6, ALK-6, AMDD, BDA1D, BDA2, CDw293
  • Links
    NCBI Gene ID: 658
    neXtProt AC: NX_O00238
    UniProt: O00238

  • Chr Location
    4q22.3; chr4:94757977-95158453 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human BMPR1B associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 3 alleles in 4 genetic backgrounds
    40 phenotypes from multigenic genotypes
    4 images
    94 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000025350 VEGA Gene Model | MGI Sequence Detail 332290 C57BL/6J ±  kb
    transcript OTTMUST00000062431 VEGA | MGI Sequence Detail 1910 Not Applicable  
    polypeptide OTTMUSP00000030768 VEGA | MGI Sequence Detail 502 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      4242 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 62
      cDNA 49
      Primer pair 10
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-35652, MGI:2139685, MGI:2139946
    References
    more
    • Summaries
      All 218
      Developmental Gene Expression 87
      Diseases 1
      Gene Ontology 18
      Phenotypes 94
    • Earliest
      J:22224 Yamaji N, et al., A mammalian serine/threonine kinase receptor specifically binds BMP-2 and BMP-4. Biochem Biophys Res Commun. 1994 Dec 30;205(3):1944-51
    • Latest
      J:258267 Jovanovic VM, et al., BMP/SMAD Pathway Promotes Neurogenesis of Midbrain Dopaminergic Neurons In Vivo and in Human Induced Pluripotent and Neural Stem Cells. J Neurosci. 2018 Feb 14;38(7):1662-1676

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory