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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
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:141837136-142169425 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 66.11 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    4242 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107191
protein coding gene Chr3:141837136-142169594 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027939
protein coding gene Chr3:144986913-145090293 (-)
A/J MGP_AJ_G0027896
protein coding gene Chr3:139865950-139962309 (-)
AKR/J MGP_AKRJ_G0027862
protein coding gene Chr3:143556291-143654429 (-)
BALB/cJ MGP_BALBcJ_G0027908
protein coding gene Chr3:139670819-139768272 (-)
C3H/HeJ MGP_C3HHeJ_G0027638
protein coding gene Chr3:143912143-144010146 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028352
protein coding gene Chr3:150056346-150403346 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025690
protein coding gene Chr3:135103470-135436920 (-)
CAST/EiJ MGP_CASTEiJ_G0027094
protein coding gene Chr3:143799811-143900363 (-)
CBA/J MGP_CBAJ_G0027615
protein coding gene Chr3:155207847-155315612 (-)
DBA/2J MGP_DBA2J_G0027754
protein coding gene Chr3:138965555-139088362 (-)
FVB/NJ MGP_FVBNJ_G0027721
protein coding gene Chr3:136420687-136513647 (-)
LP/J MGP_LPJ_G0027864
protein coding gene Chr3:146440491-146534902 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027753
protein coding gene Chr3:163527534-163629971 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028410
protein coding gene Chr3:143165050-143266513 (-)
PWK/PhJ MGP_PWKPhJ_G0026818
protein coding gene Chr3:138778440-138882018 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026645
protein coding gene Chr3:141254779-141351989 (-)
WSB/EiJ MGP_WSBEiJ_G0027173
protein coding gene Chr3:144036730-144138037 (-)



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: HGNC, HomoloGene
  • 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
less
  • Phenotype Summary
    33 phenotypes from 3 alleles in 4 genetic backgrounds
    40 phenotypes from multigenic genotypes
    4 images
    95 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 ENSMUSG00000052430 Ensembl Gene Model | MGI Sequence Detail 332290 C57BL/6J ±  kb
    transcript ENSMUST00000106232 Ensembl | MGI Sequence Detail 4164 Not Applicable  
    polypeptide ENSMUSP00000101839 Ensembl | MGI Sequence Detail 502 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 63
      cDNA 49
      Primer pair 10
      Other 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-35652, MGI:2139685, MGI:2139946
    References
    more
    • Summaries
      All 221
      Developmental Gene Expression 89
      Diseases 1
      Gene Ontology 20
      Phenotypes 95
    • 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:261627 Mori K, et al., Id2 determines intestinal identity through repression of the foregut transcription factor, Irx5. Mol Cell Biol. 2018 Feb 20;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory