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Bmpr1b
Gene Detail
Symbol

Name
ID
Bmpr1b
bone morphogenetic protein receptor, type 1B
MGI:107191
Synonyms
Acvrlk6, Alk6, BMPR-IB, CFK-43a
Feature Type
protein coding gene
Genetic Map
Chromosome 3
66.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr3:141837136-142169425 bp, - strand
From VEGA annotation of GRCm38

  332290 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20322  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Bmpr1b

Human
homologs
Human Homolog BMPR1B, bone morphogenetic protein receptor, type IB
NCBI Gene ID 658
neXtProt AC  NX_O00238
Human Synonyms  ALK6, ALK-6, CDw293
Human Chr (Location)  4q22-q24; chr4:94757977-95158450 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human BMPR1B
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(1) Transgenic(1) Transposon induced(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(4)
Interactions
Bmpr1b interacts with 370 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process BMP signaling pathway, camera-type eye development, ...
Component integral component of membrane, membrane
Function ATP binding, kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (77 records)
Data Summary: Results (456)    Tissues (250)    Images (64)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 344
Northern blot 8
Western blot 25
RT-PCR 74
cDNA source data(43)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(57) cDNA(46) Primer pair(8) Other(3)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000025350 (Evidence)
Ensembl Gene ModelENSMUSG00000052430 (Evidence)
Entrez Gene12167 (Evidence)
UniGene39089
DFCITC1582865, TC1609027, TC1624588
DoTSDT.101141340, DT.101135002, DT.101367792, DT.40140320, DT.111061126
NIA Mouse Gene IndexU024712
EC2.7.11.30
PDB3EVS
Consensus CDS ProjectCCDS17874.1
International Mouse Knockout Project StatusBmpr1b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025350 VEGA Gene Model | MGI Sequence Detail 332290 C57BL/6J ±  kb
transcript OTTMUST00000062430 VEGA | MGI Sequence Detail 2147 Not Applicable 
polypeptide OTTMUSP00000030767 VEGA | MGI Sequence Detail 502 Not Applicable 

For the selected sequences
All sequences(78) RefSeq(24) UniProt(7)
Polymorphisms
SNPs within 2kb(4260 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000333 Activin type II/Transforming growth factor-beta II receptor
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR008271 Serine/threonine-protein kinase, active site
InterPro IPR000472 TGF-beta receptor/activin receptor, type I/II
InterPro IPR003605 TGF beta receptor, GS motif
Protein Ontology PR:000000036 BMP receptor type-1B
References
(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:214844 Andree M, et al., BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella. EMBO J. 2014 Jul 23;
All references(184)
Other
accession IDs
MGD-MRK-35652, MGI:2139685, MGI:2139946

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
12/09/2014
MGI 5.20
The Jackson Laboratory