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Aliases for BMPR1B Gene

Aliases for BMPR1B Gene

  • Bone Morphogenetic Protein Receptor, Type IB 2 3
  • BMP Type-1B Receptor 3 4
  • EC 2.7.11.30 4 64
  • BMPR-1B 3 4
  • ALK6 3 6
  • Bone Morphogenetic Protein Receptor Type-1B 3
  • Serine/Threonine Receptor Kinase 3
  • Activin Receptor-Like Kinase 6 3
  • CDw293 Antigen 4
  • EC 2.7.11 64
  • CDw293 3
  • ALK-6 3

External Ids for BMPR1B Gene

Summaries for BMPR1B Gene

Entrez Gene Summary for BMPR1B Gene

  • This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for BMPR1B Gene

BMPR1B (Bone Morphogenetic Protein Receptor, Type IB) is a Protein Coding gene. Diseases associated with BMPR1B include chrondrodysplasia, acromesomelic, with genital anomalies and brachydactyly, type a2. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include protein serine/threonine kinase activity and receptor signaling protein serine/threonine kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for BMPR1B Gene

  • On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction (By similarity).

Gene Wiki entry for BMPR1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPR1B Gene

Genomics for BMPR1B Gene

Genomic Location for BMPR1B Gene

Start:
94,757,968 bp from pter
End:
95,158,450 bp from pter
Size:
400,483 bases
Orientation:
Plus strand

Genomic View for BMPR1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BMPR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPR1B Gene

Regulatory Elements for BMPR1B Gene

Proteins for BMPR1B Gene

  • Protein details for BMPR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00238-BMR1B_HUMAN
    Recommended name:
    Bone morphogenetic protein receptor type-1B
    Protein Accession:
    O00238
    Secondary Accessions:
    • B2R953
    • B4DSV1
    • P78366

    Protein attributes for BMPR1B Gene

    Size:
    502 amino acids
    Molecular mass:
    56930 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with high affinity with GDF5; positively regulates chondrocyte differentiation.

    Three dimensional structures from OCA and Proteopedia for BMPR1B Gene

    Alternative splice isoforms for BMPR1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMPR1B Gene

Proteomics data for BMPR1B Gene at MOPED

Post-translational modifications for BMPR1B Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr109

Domains for BMPR1B Gene

UniProtKB/Swiss-Prot:

BMR1B_HUMAN
Domain:
  • Contains 1 GS domain.:
    • O00238
  • Contains 1 protein kinase domain.:
    • O00238
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • O00238
genes like me logo Genes that share domains with BMPR1B: view

Function for BMPR1B Gene

Molecular function for BMPR1B Gene

GENATLAS Biochemistry: bone morphogenetic protein receptor,type 1B,predominantly expressed in prostate,TGFBR superfamily
UniProtKB/Swiss-Prot CatalyticActivity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
UniProtKB/Swiss-Prot Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction (By similarity).

Enzyme Numbers (IUBMB) for BMPR1B Gene

Gene Ontology (GO) - Molecular Function for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 10051328
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with BMPR1B: view
genes like me logo Genes that share phenotypes with BMPR1B: view

Animal Models for BMPR1B Gene

MGI Knock Outs for BMPR1B:

miRNA for BMPR1B Gene

miRTarBase miRNAs that target BMPR1B

No data available for Transcription Factor Targeting and HOMER Transcription for BMPR1B Gene

Localization for BMPR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPR1B Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BMPR1B Gene COMPARTMENTS Subcellular localization image for BMPR1B gene
Compartment Confidence
plasma membrane 4
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 14523231
GO:0016020 membrane --
GO:0043235 receptor complex TAS 14523231
genes like me logo Genes that share ontologies with BMPR1B: view

Pathways for BMPR1B Gene

genes like me logo Genes that share pathways with BMPR1B: view

Pathways by source for BMPR1B Gene

Gene Ontology (GO) - Biological Process for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 14523231
GO:0001502 cartilage condensation NAS 14523231
GO:0001550 ovarian cumulus expansion ISS --
GO:0001654 eye development ISS --
GO:0002062 chondrocyte differentiation --
genes like me logo Genes that share ontologies with BMPR1B: view

Compounds for BMPR1B Gene

(4) HMDB Compounds for BMPR1B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(3) Novoseek inferred chemical compound relationships for BMPR1B Gene

Compound -log(P) Hits PubMed IDs
threonine 51.5 1
serine 28.9 2
tyrosine 8.95 3
genes like me logo Genes that share compounds with BMPR1B: view

Transcripts for BMPR1B Gene

Unigene Clusters for BMPR1B Gene

Bone morphogenetic protein receptor, type IB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMPR1B Gene

No ASD Table

Relevant External Links for BMPR1B Gene

GeneLoc Exon Structure for
BMPR1B
ECgene alternative splicing isoforms for
BMPR1B

Expression for BMPR1B Gene

mRNA expression in normal human tissues for BMPR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BMPR1B Gene

SOURCE GeneReport for Unigene cluster for BMPR1B Gene Hs.598475

genes like me logo Genes that share expressions with BMPR1B: view

Orthologs for BMPR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMPR1B 36
  • 99.44 (n)
  • 99.25 (a)
BMPR1B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BMPR1B 36
  • 92.63 (n)
  • 98.61 (a)
BMPR1B 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMPR1B 36
  • 93.89 (n)
  • 98.41 (a)
BMPR1B 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmpr1b 36
  • 89.24 (n)
  • 98.21 (a)
Bmpr1b 16
Bmpr1b 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMPR1B 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPR1B 37
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMPR1B 36
  • 80.94 (n)
  • 91.43 (a)
BMPR1B 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPR1B 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmpr1b 36
  • 78.45 (n)
  • 89.47 (a)
Str.13009 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
bmpr1ba 36
  • 71.59 (n)
  • 81.38 (a)
bmpr1ba 37
  • 82 (a)
OneToMany
bmpr1bb 37
  • 92 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009329 36
  • 55.27 (n)
  • 56.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta tkv 36
  • 53.99 (n)
  • 52.67 (a)
tkv 37
  • 45 (a)
OneToMany
tkv 38
  • 52 (a)
babo 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-6 36
  • 50.1 (n)
  • 41.15 (a)
sma-6 38
  • 35 (a)
daf-1 38
  • 37 (a)
Species with no ortholog for BMPR1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMPR1B Gene

ENSEMBL:
Gene Tree for BMPR1B (if available)
TreeFam:
Gene Tree for BMPR1B (if available)

Paralogs for BMPR1B Gene

Selected SIMAP similar genes for BMPR1B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BMPR1B: view

Variants for BMPR1B Gene

Sequence variations from dbSNP and Humsavar for BMPR1B Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs716190 -- 94,995,637(-) TCAGG(C/T)AGGTG intron-variant, upstream-variant-2KB
rs716191 -- 94,995,768(-) CCCAG(A/C)AACCC intron-variant, upstream-variant-2KB
rs723169 -- 94,992,903(+) aaaga(G/T)atggg intron-variant
rs723170 -- 94,993,082(+) gacaa(A/G)gtctt intron-variant
rs723367 -- 95,094,156(-) TTGAC(A/G)GTGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BMPR1B Gene

Variant ID Type Subtype PubMed ID
esv25254 CNV Loss 19812545
nsv518579 CNV Gain 19592680
esv270403 CNV Insertion 20981092
esv2517956 CNV Deletion 19546169
esv2294326 CNV Deletion 18987734
esv2727991 CNV Deletion 23290073
esv2195551 CNV Deletion 18987734
esv2667118 CNV Deletion 23128226
nsv879622 CNV Gain 21882294
nsv830011 CNV Gain 17160897
esv2727992 CNV Deletion 23290073

Relevant External Links for BMPR1B Gene

HapMap Linkage Disequilibrium report
BMPR1B
Human Gene Mutation Database (HGMD)
BMPR1B

Disorders for BMPR1B Gene

(2) OMIM Diseases for BMPR1B Gene (603248)

UniProtKB/Swiss-Prot

BMR1B_HUMAN
  • Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). {ECO:0000269 PubMed:15805157}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269 PubMed:14523231, ECO:0000269 PubMed:16957682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for BMPR1B Gene

(6) Novoseek inferred disease relationships for BMPR1B Gene

Disease -log(P) Hits PubMed IDs
brachydactyly, type a2 92.5 2
pancreatic cancer 17.7 2
inflammation 0 1
breast cancer 0 2
tumors 0 1

Relevant External Links for BMPR1B

Genetic Association Database (GAD)
BMPR1B
Human Genome Epidemiology (HuGE) Navigator
BMPR1B
genes like me logo Genes that share disorders with BMPR1B: view

Publications for BMPR1B Gene

  1. Cloning of human bone morphogenetic protein type IB receptor (BMPR- IB) and its expression in prostate cancer in comparison with other BMPRs. (PMID: 9178898) Ide H. … Terada M. (Oncogene 1997) 3 4 23
  2. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PMID: 10051328) Astroem A.-K. … Stenman G. (Mamm. Genome 1999) 3 4 23
  3. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PMID: 14523231) Lehmann K. … Mundlos S. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  4. Bone morphogenetic protein receptor IB signaling mediates apoptosis independently of differentiation in osteoblastic cells. (PMID: 14576167) HaA? E. … Marie P.J. (J. Biol. Chem. 2004) 3 23
  5. Bone morphogenetic proteins. (PMID: 15621726) Chen D. … Mundy G.R. (Growth Factors 2004) 3 23

Products for BMPR1B Gene

Sources for BMPR1B Gene

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