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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
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

  • Chr Location
    4q22-q24; chr4:94757977-95158450 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human BMPR1B associations

Human Disease Mouse Models
       Acromesomelic Dysplasia, Demirhan Type; AMDD   OMIM: 609441
Brachydactyly, Type A1, D; BDA1D   OMIM: 616849
Brachydactyly, Type A2; BDA2   OMIM: 112600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 3 alleles in 4 genetic backgrounds
    39 phenotypes from multigenic genotypes
    4 images
    82 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.
  • All Mutations and Alleles
    7
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    1
  • Transgenic
    3
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Bmpr1b
  • Incidental Mutations
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
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 OTTMUSG00000025350 VEGA Gene Model | MGI Sequence Detail 332290 C57BL/6J ±  kb
transcript OTTMUST00000062399 VEGA | MGI Sequence Detail 5349 Not Applicable  
polypeptide OTTMUSP00000030749 VEGA | MGI Sequence Detail 502 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    4242 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 57
    cDNA 46
    Primer pair 8
    Other 3

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-35652, MGI:2139685, MGI:2139946
References
more
  • Summaries
    All 190
    Developmental Gene Expression 79
    Gene Ontology 18
    Phenotypes 82
  • 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:233359 Rigueur D, et al., The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development. J Bone Miner Res. 2015 Apr;30(4):733-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory