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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:141542897-141875186 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 66.11 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    10841 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 Chr3:141540230-141875335 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BMPR1B, bone morphogenetic protein receptor type 1B
  • Synonyms
    ALK-6, ALK6, AMD3, AMDD, BDA1D, BDA2, CDw293
  • Links
    NCBI Gene ID: 658
    neXtProt AC: NX_O00238
    UniProt: O00238

  • Chr Location
    4q22.3; chr4:94757955-95158450 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human BMPR1B associations

Human Disease Mouse Models
      
IDs
IDs
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
    48 phenotypes from 4 alleles in 5 genetic backgrounds
    40 phenotypes from multigenic genotypes
    4 images
    121 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
less
  • All GO Annotations
    88
  • GO References
    28
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1243
  • Tissues
    297
  • cDNA Data
    47
  • Literature Summary
    101
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 68
      cDNA 50
      Primer pair 13
      Other 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-35652, MGI:2139685, MGI:2139946
    References
    more
    • Summaries
      All 265
      Developmental Gene Expression 101
      Diseases 1
      Gene Ontology 28
      Phenotypes 121
    • 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:348651 Qi L, et al., A mouse DRG genetic toolkit reveals morphological and physiological diversity of somatosensory neuron subtypes. Cell. 2024 Mar 14;187(6):1508-1526.e16
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory