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BMPR1B Gene(Protein Coding)

Bone Morphogenetic Protein Receptor Type 1B

GCID:
GC04P094757
GIFtS:
72
Genes Participants
UDN Logo

Aliases for BMPR1B Gene

Aliases for BMPR1B Gene

  • Bone Morphogenetic Protein Receptor Type 1B 2 3
  • Bone Morphogenetic Protein Receptor, Type IB 2 3
  • Bone Morphogenetic Protein Receptor Type IB 3 5
  • BMP Type-1B Receptor 3 4
  • EC 2.7.11.30 4 63
  • BMPR-1B 3 4
  • Serine/Threonine Receptor Kinase 3
  • Activin Receptor-Like Kinase 6 3
  • CDw293 Antigen 4
  • EC 2.7.11 63
  • CDw293 3
  • ALK-6 3
  • BDA1D 3
  • BDA2 3
  • ALK6 3
  • AMDD 3

External Ids for BMPR1B Gene

Previous GeneCards Identifiers for BMPR1B Gene

  • GC04P096144
  • GC04P095991
  • GC04P096137
  • GC04P096036
  • GC04P095679
  • GC04P091416

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 1B) is a Protein Coding gene. Diseases associated with BMPR1B include Brachydactyly, Type A2 and Acromesomelic Dysplasia, Demirhan Type. Among its related pathways are Axon guidance and ERK Signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine 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.

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

Products:

  1. Regulatory Element

Regulatory Elements for BMPR1B Gene

Enhancers for BMPR1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BMPR1B on UCSC Golden Path with GeneCards custom track

Promoters for BMPR1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMPR1B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BMPR1B gene promoter:

Genomic Location for BMPR1B Gene

Chromosome:
4
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

Genes around BMPR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMPR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMPR1B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BMPR1B Gene

Proteins for BMPR1B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for BMPR1B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BMPR1B Gene

O00238:

Post-translational modifications for BMPR1B Gene

  • Glycosylation at Thr 109
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPR1B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for BMPR1B (BMPR-IB/ALK-6)

Domains & Families for BMPR1B Gene

Gene Families for BMPR1B Gene

HGNC:
IUPHAR :

Protein Domains for BMPR1B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BMPR1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00238

UniProtKB/Swiss-Prot:

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

Function for BMPR1B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Enzyme Numbers (IUBMB) for BMPR1B Gene

Gene Ontology (GO) - Molecular Function for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005025 transforming growth factor beta receptor activity, type I IEA --
GO:0046332 SMAD binding IDA 12065756
genes like me logo Genes that share ontologies with BMPR1B: view

Phenotypes for BMPR1B Gene

MGI mutant phenotypes for BMPR1B:
inferred from 2 alleles
GenomeRNAi human phenotypes for BMPR1B:
genes like me logo Genes that share phenotypes with BMPR1B: view

Human Phenotype Ontology for BMPR1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMPR1B Gene

MGI Knock Outs for BMPR1B:

Animal Model Products

miRNA for BMPR1B Gene

miRTarBase miRNAs that target BMPR1B

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for BMPR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPR1B Gene

Cell membrane. 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 5
nucleus 3
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with BMPR1B: view

Pathways & Interactions for BMPR1B Gene

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

SIGNOR curated interactions for BMPR1B Gene

Activates:
Is activated by:
Is inactivated by:

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 IEA,NAS 14523231
GO:0001550 ovarian cumulus expansion IEA,ISS --
GO:0001654 eye development IEA,ISS --
GO:0002062 chondrocyte differentiation IEA --
genes like me logo Genes that share ontologies with BMPR1B: view

Drugs & Compounds for BMPR1B Gene

Products:

  1. Drug

(6) Drugs for BMPR1B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Manganese Pharma 32
Magnesium Nutra 0

(1) Additional Compounds for BMPR1B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BMPR1B: view

Transcripts for BMPR1B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for BMPR1B Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(46) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMPR1B Gene

Bone morphogenetic protein receptor, type IB:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for BMPR1B Gene

mRNA expression in normal human tissues for BMPR1B Gene
mRNA expression by BioGPS for BMPR1B GenemRNA expression by GTEx for BMPR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BMPR1B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for BMPR1B Gene

Orthologs for BMPR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia BMPR1B 35
  • 92.63 (n)
  • 98.61 (a)
BMPR1B 36
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BMPR1B 35
  • 93.89 (n)
  • 98.41 (a)
BMPR1B 36
  • 98 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bmpr1b 35
  • 89.24 (n)
  • 98.21 (a)
Bmpr1b 16
Bmpr1b 36
  • 98 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia BMPR1B 35
  • 99.44 (n)
  • 99.25 (a)
BMPR1B 36
  • 99 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia BMPR1B 36
  • 95 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia BMPR1B 36
  • 95 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BMPR1B 35
  • 80.94 (n)
  • 91.43 (a)
BMPR1B 36
  • 83 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BMPR1B 36
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bmpr1b 35
  • 78.45 (n)
  • 89.47 (a)
Str.13009 35
zebrafish
(Danio rerio)
 Actinopterygii -- 35
bmpr1ba 35
  • 71.59 (n)
  • 81.38 (a)
bmpr1ba 36
  • 82 (a)
 OneToMany
bmpr1bb 36
  • 92 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta babo 37
  • 48 (a)
tkv 37
  • 52 (a)
tkv 35
  • 53.99 (n)
  • 52.67 (a)
tkv 36
  • 45 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009329 35
  • 55.27 (n)
  • 56.77 (a)
worm
(Caenorhabditis elegans)
 Secernentea daf-1 37
  • 37 (a)
sma-6 37
  • 35 (a)
sma-6 35
  • 50.1 (n)
  • 41.15 (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

Paralogs for BMPR1B Gene

(10) 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
VAR_023819 Brachydactyly A2 (BDA2)
VAR_023820 Brachydactyly A2 (BDA2)
VAR_037967 Brachydactyly A2 (BDA2)
VAR_041401 A gastric adenocarcinoma sample
rs34231464 - 95,123,905(+) ACTTC(A/C/T)GGTAA reference, missense

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

Variation tolerance for BMPR1B Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMPR1B Gene

Human Gene Mutation Database (HGMD)
BMPR1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR1B Gene

Disorders for BMPR1B Gene

MalaCards: The human disease database

(13) MalaCards diseases for BMPR1B Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brachydactyly, type a2
  • brachydactyly type a2
acromesomelic dysplasia, demirhan type
  • acromesomelic chondrodysplasia, with genital anomalies
fibular aplasia-complex brachydactyly syndrome
  • du pan syndrome
brachydactyly, type c
  • brachydactyly type c
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BMR1B_HUMAN
  • Acromesomelic dysplasia, Demirhan type (AMDD) [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, ECO:0000269 PubMed:24129431, ECO:0000269 PubMed:26105076}. 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.

Relevant External Links for BMPR1B

Genetic Association Database (GAD)
BMPR1B
Human Genome Epidemiology (HuGE) Navigator
BMPR1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMPR1B
genes like me logo Genes that share disorders with BMPR1B: view

No data available for Genatlas for BMPR1B Gene

Publications for BMPR1B Gene

  1. 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 67
  2. Basal expression of bone morphogenetic protein receptor is reduced in mild asthma. (PMID: 18292470) Kariyawasam H.H. … Robinson D.S. (Am. J. Respir. Crit. Care Med. 2008) 3 23
  3. Changes in bone morphogenetic protein receptor-IB localisation regulate osteogenic responses of human bone cells to bone morphogenetic protein-2. (PMID: 18619554) Singhatanadgit W. … Olsen I. (Int. J. Biochem. Cell Biol. 2008) 3 23
  4. RNA interference of the BMPR-IB gene blocks BMP-2-induced osteogenic gene expression in human bone cells. (PMID: 18773965) Singhatanadgit W. … Olsen I. (Cell Biol. Int. 2008) 3 23
  5. Up-regulation of bone morphogenetic protein receptor IB by growth factors enhances BMP-2-induced human bone cell functions. (PMID: 17001689) Singhatanadgit W. … Olsen I. (J. Cell. Physiol. 2006) 3 23

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