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Bmpr1a Gene Detail
Summary
  • Symbol
    Bmpr1a
  • Name
    bone morphogenetic protein receptor, type 1A
  • Synonyms
    1110037I22Rik, ALK3, Bmpr, BMPR-IA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338938
    NCBI Gene: 12166
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:34133018-34225335 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 20.81 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2210 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338938
 protein coding gene Chr14:34132691-34225335 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021175
 protein coding gene Chr14:27764996-27861456 (-)
A/J MGP_AJ_G0021123
 protein coding gene Chr14:26691721-26790067 (-)
AKR/J MGP_AKRJ_G0021100
 protein coding gene Chr14:27871890-27971808 (-)
BALB/cJ MGP_BALBcJ_G0021127
 protein coding gene Chr14:26874807-26968384 (-)
C3H/HeJ MGP_C3HHeJ_G0020910
 protein coding gene Chr14:27798641-27899260 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021559
 protein coding gene Chr14:28826624-28927265 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019121
 protein coding gene Chr14:26712628-26803610 (-)
CAST/EiJ MGP_CASTEiJ_G0020435
 protein coding gene Chr14:27611652-27705107 (-)
CBA/J MGP_CBAJ_G0020877
 protein coding gene Chr14:29886638-29983452 (-)
DBA/2J MGP_DBA2J_G0020999
 protein coding gene Chr14:26725502-26818033 (-)
FVB/NJ MGP_FVBNJ_G0020983
 protein coding gene Chr14:26685142-26777977 (-)
LP/J MGP_LPJ_G0021068
 protein coding gene Chr14:28094651-28191390 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021009
 protein coding gene Chr14:29019934-29119430 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021592
 protein coding gene Chr14:27711774-27812150 (-)
PWK/PhJ MGP_PWKPhJ_G0020183
 protein coding gene Chr14:26210974-26308624 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020007
 protein coding gene Chr14:27314207-27413424 (-)
WSB/EiJ MGP_WSBEiJ_G0020490
 protein coding gene Chr14:27764380-27861864 (-)



Homology
more
  • Human Ortholog
    BMPR1A, bone morphogenetic protein receptor type 1A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BMPR1A, bone morphogenetic protein receptor type 1A
  • Synonyms
    10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
  • Links
    NCBI Gene ID: 657
    neXtProt AC: NX_P36894
    UniProt: P36894

  • Chr Location
    10q23.2; chr10:86755763-86932844 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with Bmpr1a mouse models; 3 with human BMPR1A associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    142 phenotypes from 6 alleles in 21 genetic backgrounds
    36 phenotypes from multigenic genotypes
    6 images
    220 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.
Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    149
  • GO References
    46
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
    1225
  • Tissues
    324
  • cDNA Data
    33
  • Literature Summary
    137
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12166 NCBI Gene Model | MGI Sequence Detail 92318 C57BL/6J ±  kb
    transcript NM_009758 RefSeq | MGI Sequence Detail 5481 ZRU/MplStud  
    polypeptide P36895 UniProt | EBI | MGI Sequence Detail 532 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 1
      cDNA 35
      Primer pair 21
      Other 4

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-1605, MGI:1915998, MGI:2145761, MGI:88183
    References
    more
    • Summaries
      All 401
      Developmental Gene Expression 137
      Diseases 4
      Gene Ontology 46
      Phenotypes 220
    • Earliest
      J:148755 Burgoyne PS, et al., XY follicle cells in ovaries of XX----XY female mouse chimaeras. Development. 1988 Dec;104(4):683-8
    • Latest
      J:349514 Ihle CL, et al., Unique macrophage phenotypes activated by BMP signaling in breast cancer bone metastases. JCI Insight. 2024 Jan 9;9(1)
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory