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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 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
  • ALK6 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 IB) is a Protein Coding gene. Diseases associated with BMPR1B include brachydactyly, type a2 and fibular aplasia - complex brachydactyly. Among its related pathways are Signaling by GPCR and Akt 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 (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

Regulatory Elements for BMPR1B Gene

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

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

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

  • Glycosylation at Thr 109
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for BMPR1B Gene

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

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:0001948 glycoprotein binding IPI 24904118
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 --
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:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BMPR1B

In Situ Assay 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

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
nucleus 2
extracellular 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: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

PCR Array Products

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 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

Drugs & Compounds for BMPR1B Gene

(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 30
Magnesium Nutra 0
serine Nutra 420
threonine Nutra 16

(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
Antagonist, Gating inhibitor 58-64-0
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BMPR1B

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

mRNA expression in normal human tissues 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

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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

(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 MAF
VAR_023819 Brachydactyly A2 (BDA2)
VAR_023820 Brachydactyly A2 (BDA2)
VAR_037967 Brachydactyly A2 (BDA2)
VAR_041401 A gastric adenocarcinoma sample
VAR_041402 -

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: 47.55% 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

HapMap Linkage Disequilibrium report
BMPR1B
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

(12) 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
fibular aplasia - complex brachydactyly
  • du pan syndrome
acromesomelic dysplasia, demirhan type
  • acromesomelic chondrodysplasia, with genital anomalies
brachydactyly, type c
  • brachydactyly type c
chondrodysplasia, grebe type
  • acromesomelic dysplasia, grebe type
- elite association

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.

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. Human adipose-derived stromal cells respond to and elaborate bone morphogenetic protein-2 during in vitro osteogenic differentiation. (PMID: 20124834) Panetta N.J. … Longaker M.T. (Plast. Reconstr. Surg. 2010) 23 67
  2. BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo. (PMID: 20406889) Suzuki Y. … Watabe T. (J. Cell. Sci. 2010) 23 67
  3. Different domains regulate homomeric and heteromeric complex formation among type I and type II transforming growth factor-beta receptors. (PMID: 19147499) Rechtman M.M. … Henis Y.I. (J. Biol. Chem. 2009) 23 67
  4. Single-molecule imaging reveals transforming growth factor-beta-induced type II receptor dimerization. (PMID: 19720988) Zhang W. … Chen Y.G. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67
  5. The transforming growth factor-beta type III receptor mediates distinct subcellular trafficking and downstream signaling of activin-like kinase (ALK)3 and ALK6 receptors. (PMID: 19726563) Lee N.Y. … Blobe G.C. (Mol. Biol. Cell 2009) 23 67

Products for BMPR1B Gene

Sources for BMPR1B Gene

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