Aliases for BMPR1B Gene
Aliases for BMPR1B Gene
External Ids for BMPR1B Gene
- HGNC: 1077
- Entrez Gene: 658
- Ensembl: ENSG00000138696
- OMIM: 603248
- UniProtKB: O00238
Previous GeneCards Identifiers for BMPR1B Gene
- GC04P096144
- GC04P095991
- GC04P096137
- GC04P096036
- GC04P095679
- GC04P091416
Summaries 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 Acromesomelic Dysplasia, Demirhan Type and Brachydactyly, Type A1, D. Among its related pathways are Akt Signaling and Ovarian Infertility Genes. Gene Ontology (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 BMPR1A.
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.
Additional gene information for BMPR1B Gene
- Monarch Initiative
- Search for BMPR1B at DataMed
- Search for BMPR1B at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPR1B Gene
Genomics for BMPR1B Gene
GeneHancer (GH) Regulatory Elements for BMPR1B Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04I094757 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 550.8 | +0.2 | 248 | 1.6 | KLF17 ZNF76 SIN3A BMI1 ZNF2 ZNF335 GLIS2 ZNF366 EGR2 SP3 | BMPR1B BMPR1B-AS1 GC04P094745 GC04M094777 | |
GH04I094994 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE | 571.3 | +238.1 | 238119 | 2.3 | ZNF76 FEZF1 ZIC2 ZNF664 ZNF335 GATA3 ZNF341 FOXP2 PRDM10 ZNF600 | BMPR1B GC04P094910 GC04M095163 | |
GH04I095051 | Promoter/Enhancer | 1.1 | EPDnew Ensembl | 550.1 | +293.6 | 293633 | 0.4 | ZNF335 PKNOX1 PRDM6 L3MBTL2 MYNN SIN3A ZNF600 ZNF501 ZBTB17 | BMPR1B GC04M095163 GC04P094910 | |
GH04I095092 | Promoter/Enhancer | 0.8 | EPDnew dbSUPER | 550.1 | +333.5 | 333469 | 0.1 | SIN3A | BMPR1B GC04M095163 GC04P094910 | |
GH04I094865 | Promoter | 0.5 | EPDnew | 550.1 | +108.0 | 107965 | 0.1 | BMPR1B GC04P094910 GC04M094777 |
Regulatory Element Products
Genomic Locations for BMPR1B Gene
- chr4:94,757,968-95,158,450
- (GRCh38/hg38)
- Size:
- 400,483 bases
- Orientation:
- Plus strand
- chr4:95,679,119-96,079,601
- (GRCh37/hg19)
Genomic View for BMPR1B Gene
- Cytogenetic band:
-
- 4q22.3 by Ensembl
- 4q22.3 by Entrez Gene
- 4q22.3 by HGNC


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
- 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.
Protein Expression for BMPR1B Gene
Selected DME Specific Peptides for BMPR1B Gene
- O00238:
-
- LITDYHE
- SGSGSGLP
- HRDLKSKNILVKKNG
- RHENILGFIAAD
- RVGTKRYM
- KPAIAHRD
- IADLGLA
- PLLVQRTIA
- CCIADLGLA
- ECWAHNPASRLTALR
- RLTALRVKKT
Post-translational modifications for BMPR1B Gene
- Glycosylation at Thr109
Other Protein References for BMPR1B Gene
Antibody Products
- R&D Systems Antibodies for BMPR1B (BMPR-IB/ALK-6)
-
Custom Antibody ServicesOriGene Antibodies for BMPR1B
- Novus Biologicals Antibodies for BMPR1B
-
Abcam antibodies for BMPR1B
-
Cloud-Clone Corp. Antibodies for BMPR1B
- Invitrogen Antibodies for BMPR1B
- GeneTex BMPR1B antibody for BMPR1B
-
Santa Cruz Biotechnology (SCBT) Antibodies for BMPR1B
- Sino Biological Antibodies for BMPR1B
Protein Products
- R&D Systems Proteins and Enzymes for BMPR1B (BMPR-IB/ALK-6)
-
OriGene Purified Proteins for BMPR1B
- Search Origene for MassSpec and Protein Over-expression Lysates for BMPR1B
- Origene Custom Protein Services for BMPR1B
- Sino Biological Cell Lysates for BMPR1B
- Sino Biological Recombinant Proteins for BMPR1B
- ProSpec Recombinant Proteins for BMPR1B
-
Cloud-Clone Corp. Proteins for BMPR1B
- Search GeneTex for Proteins for BMPR1B
-
Abcam proteins for BMPR1B
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for BMPR1B (BMPR-IB/ALK-6)
-
Cloud-Clone Corp. Assay Kits for BMPR1B
Domains & Families for BMPR1B Gene
Gene Families for BMPR1B Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for BMPR1B Gene
Suggested Antigen Peptide Sequences for BMPR1B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00238UniProtKB/Swiss-Prot:
BMR1B_HUMAN :- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
- Family:
-
- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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.
Enzyme Numbers (IUBMB) for BMPR1B Gene
Phenotypes From GWAS Catalog for BMPR1B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IDA | 12065756 |
GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | NAS | 10051328 |
GO:0004702 | signal transducer, downstream of receptor, with serine/threonine kinase activity | IEA | -- |
GO:0005025 | transforming growth factor beta receptor activity, type I | IEA | -- |
Phenotypes for BMPR1B Gene
- MGI mutant phenotypes for BMPR1B:
-
inferred from 3 alleles
- nervous system phenotype
- normal phenotype
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- embryo phenotype
- skeleton phenotype
- pigmentation phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for BMPR1B:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased ionizing radiation sensitivity
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Increased G1 DNA content
- Decreased substrate adherent cell growth
- Decreased viability
- Increased cell death HMECs cells
- Increased shRNA abundance
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased cell viability after pRB stimulation
- Condensed cis-Golgi
- Increased simian virus 40 (SV40) infection
Animal Models for BMPR1B Gene
- MGI Knock Outs for BMPR1B:
-
- Bmpr1b tm1Kml
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for BMPR1B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for BMPR1B gene
- Search ViGene Biosciences for BMPR1B
CRISPR Products
-
OriGene CRISPR knockouts for BMPR1B
- genomics-online: gRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- Applied Biological Materials CRISPR for BMPR1B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1B
- GenScript: Design CRISPR guide RNA sequences for BMPR1B
miRNA for BMPR1B Gene
- miRTarBase miRNAs that target BMPR1B
miRNA Products
- Search ViGene Biosciences for BMPR1B
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BMPR1B
- Browse OriGene Inhibitory RNA Products For BMPR1B
- genomics-online: shRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for BMPR1B gene
Clone Products
- Sino Biological Human cDNA Clone for BMPR1B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for BMPR1B
- Applied Biological Materials Clones for BMPR1B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BMPR1B (BMPR-IB/ALK-6)
Cell Line Products
-
Horizon Cell Lines for BMPR1B
-
ViGene Biosciences adenoviral particle packaged cDNA for BMPR1B gene
-
ViGene Biosciences lentiviral particle packaged cDNA for BMPR1B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for BMPR1B gene
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.
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 | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030425 | dendrite | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMPR1B Gene
Pathways & Interactions for BMPR1B Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Pathway |
.39
|
|
2 | Akt Signaling |
.60
.60
|
|
3 | PEDF Induced Signaling |
.47
|
|
4 | DREAM Repression and Dynorphin Expression |
.44
|
|
5 | Human Embryonic Stem Cell Pluripotency |
Pathways by source for BMPR1B Gene
1 GeneTex pathway for BMPR1B Gene
2 BioSystems pathways for BMPR1B Gene
2 Reactome pathways for BMPR1B Gene
6 KEGG pathways for BMPR1B Gene
4 Tocris pathways for BMPR1B Gene
11 Qiagen pathways for BMPR1B Gene
Interacting Proteins for BMPR1B Gene
SIGNOR curated interactions for BMPR1B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IMP | 14523231 |
GO:0001502 | cartilage condensation | NAS,IEA | 14523231 |
GO:0001550 | ovarian cumulus expansion | ISS,IEA | -- |
GO:0001654 | eye development | ISS,IEA | -- |
GO:0002062 | chondrocyte differentiation | IEA | -- |
Drugs & Compounds for BMPR1B Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved | Nutra | 0 | |||
Manganese | Approved | Nutra | 37 | |||
ATP | Investigational | Nutra | Agonist | 0 | ||
LDN-212854 | Pharma | BMP receptor inhibitor,potent and selective | 0 | |||
ML347 | Pharma | BMP receptor inhibitor,potent and selective, Potent and selective ALK1 and ALK2 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist | 58-64-0 |
|
(2) ApexBio Compounds for BMPR1B Gene
Compound | Action | Cas Number |
---|---|---|
LDN-212854 | BMP receptor inhibitor,potent and selective | 1432597-26-6 |
ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
Transcripts for BMPR1B Gene
mRNA/cDNA for BMPR1B Gene
- (9) 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
CRISPR Products
-
OriGene CRISPR knockouts for BMPR1B
- genomics-online: gRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- Applied Biological Materials CRISPR for BMPR1B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1B
- GenScript: Design CRISPR guide RNA sequences for BMPR1B
miRNA Products
- Search ViGene Biosciences for BMPR1B
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BMPR1B
- Browse OriGene Inhibitory RNA Products For BMPR1B
- genomics-online: shRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for BMPR1B gene
Clone Products
- Sino Biological Human cDNA Clone for BMPR1B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for BMPR1B
- Applied Biological Materials Clones for BMPR1B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BMPR1B (BMPR-IB/ALK-6)
Expression for BMPR1B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Endochondral Preosteoblasts Stylopod Perichondrium
- Endochondral Preosteoblasts Zeugopod Perichondrium
- Endochondral Preosteoblasts Rib
- Endochondral Preosteoblasts Vertebrae
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
-
Epidermis (Integumentary System)
- Spinous Keratinocytes Stratified Epidermis
-
Epithelial Cells
- Spinous Keratinocytes Stratified Epidermis
-
Brain (Nervous System)
- Choroid Plexus Progenitor Cells Choroid Plexus
- Neural Tube (Nervous System)
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Prostate (Endocrine System)
-
Skeletal Muscle (Muscoskeletal System)
-
Breast (Uncategorized)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BMPR1B Gene
NURSA nuclear receptor signaling pathways regulating expression of BMPR1B Gene:
BMPR1BSOURCE GeneReport for Unigene cluster for BMPR1B Gene:
Hs.598475Evidence on tissue expression from TISSUES for BMPR1B Gene
- Nervous system(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BMPR1B Gene
- ectoderm
- mesoderm
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- brain
- face
- head
- neck
- nose
- pituitary gland
- skull
- breast
- clavicle
- ovary
- pelvis
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- hair
- skin
- spinal column
Primer Products
-
OriGene qPCR primer pairs for BMPR1B
-
OriGene qPCR primer pairs and template standards for BMPR1B
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BMPR1B Gene
Orthologs for BMPR1B Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | BMPR1B 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | BMPR1B 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR1B 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | BMPR1B 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | BMPR1B 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Bmpr1b 33 16 34 |
|
||
chicken (Gallus gallus) |
Aves | BMPR1B 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | BMPR1B 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | bmpr1b 33 |
|
||
Str.13009 33 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | bmpr1bb 34 |
|
OneToMany | |
bmpr1ba 33 34 |
|
||||
-- 33 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009329 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | tkv 35 33 34 |
|
||
babo 35 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | sma-6 35 33 |
|
||
daf-1 35 |
|
|
- Species where no ortholog for BMPR1B was found in the sources mined by GeneCards:
-
- 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)
Paralogs for BMPR1B Gene
Paralogs for BMPR1B Gene
(10) SIMAP similar genes for BMPR1B Gene using alignment to 3 proteins:
Variants for BMPR1B Gene
SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000796830 | uncertain-significance, Brachydactyly | 95,156,249(+) | G/A | 3_prime_UTR_variant | |
rs1054148840 | uncertain-significance, Brachydactyly | 95,158,147(+) | A/C/G | 3_prime_UTR_variant | |
rs11097457 | benign, Brachydactyly | 95,155,662(+) | A/G | 3_prime_UTR_variant | |
rs112111860 | likely-benign, Brachydactyly | 95,131,327(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
rs112333283 | likely-benign, Brachydactyly, not specified | 95,154,682(+) | G/C | 3_prime_UTR_variant |
Additional Variant Information for BMPR1B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR1B Gene
Disorders for BMPR1B Gene

(15) MalaCards diseases for BMPR1B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
acromesomelic dysplasia, demirhan type |
|
|
brachydactyly, type a1, d |
|
|
brachydactyly, type a2 |
|
|
fibular hypoplasia and complex brachydactyly |
|
|
chondrodysplasia, grebe type |
|
|
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 A1, D (BDA1D) [MIM:616849]: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. {ECO:0000269 PubMed:25758993}. 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.
Additional Disease Information for BMPR1B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BMPR1B Gene
Publications for BMPR1B Gene
- Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PMID: 14523231) Lehmann K … Mundlos S (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 58
- Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PMID: 10051328) Aström AK … Stenman G (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 3 4 22 58
- 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 22 58
- Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (PMID: 25758993) Racacho L … Bulman DE (European journal of human genetics : EJHG 2015) 3 4 58
- A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. (PMID: 26105076) Stange K … Borck G (Orphanet journal of rare diseases 2015) 3 4 58
Products for BMPR1B Gene
- R&D Systems Antibodies for BMPR1B (BMPR-IB/ALK-6)
- R&D Systems Proteins and Enzymes for BMPR1B (BMPR-IB/ALK-6)
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for BMPR1B (BMPR-IB/ALK-6)
- R&D Systems cDNA Clones for BMPR1B (BMPR-IB/ALK-6)
- Browse Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for BMPR1B
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for BMPR1B
- Search Origene for MassSpec and Protein Over-expression Lysates for BMPR1B
- Origene Custom Protein Services for BMPR1B
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMPR1B
- Browse OriGene Inhibitory RNA Products For BMPR1B
- OriGene qPCR primer pairs and template standards for BMPR1B
- OriGene qPCR primer pairs for BMPR1B
- OriGene CRISPR knockouts for BMPR1B
- OriGene ORF clones in human for BMPR1B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BMPR1B
- GenScript: Next-day shipping of latest version cDNA ORF clones for BMPR1B in any vector
- GenScript Custom Purified and Recombinant Proteins Services for BMPR1B
- GenScript Custom Assay Services for BMPR1B
- GenScript Custom overexpressing Cell Line Services for BMPR1B
- GenScript: Design CRISPR guide RNA sequences for BMPR1B
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for BMPR1B
- Sino Biological Human cDNA Clone for BMPR1B
- Sino Biological Recombinant Proteins for BMPR1B
- Sino Biological Cell Lysates for BMPR1B
- Sino Biological Antibodies for BMPR1B
- Browse Sino Biological Assays
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for BMPR1B
- Novus Biologicals lysates and proteins for BMPR1B
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for BMPR1B
- Abcam proteins for BMPR1B
- Find your target
- Browse Primary Antibodies
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- ProSpec Recombinant Proteins for BMPR1B
- Cloud-Clone Corp. Antibodies for BMPR1B
- Cloud-Clone Corp. Proteins for BMPR1B
- Cloud-Clone Corp. Assay Kits for BMPR1B
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for BMPR1B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for BMPR1B
- Addgene plasmids for BMPR1B
- antibodies-online: Search results for available BMPR1B related products ranked by validation data
- antibodies-online: Search results for 22 available BMPR1B Elisa Kits ranked by validation data
- Compare Top BMPR1B Elisa Kits
- antibodies-online: Search results for 19 available BMPR1B Proteins ranked by validation data
- Compare Top BMPR1B Proteins
- GeneTex BMPR1B antibody for BMPR1B
- Search GeneTex for Proteins for BMPR1B
- ViGene Biosciences adenoviral particle packaged cDNA for BMPR1B gene
- ViGene Biosciences lentiviral particle packaged cDNA for BMPR1B gene
- ViGene Biosciences ready-to-package AAV shRNAs for BMPR1B gene
- Search ViGene Biosciences for BMPR1B
- Santa Cruz Biotechnology (SCBT) Antibodies for BMPR1B
- Search Santa Cruz Biotechnology (SCBT) for BMPR1B siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1B
- Horizon Cell Lines for BMPR1B
- genomics-online: cdna clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- orf clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- genomics-online: gRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- genomics-online: primer clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
- genomics-online: shRNA clones - Search results for 149 available BMPR1B gene related products
- Overview of 149 available BMPR1B gene related products
Sources for BMPR1B Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew