BMPR1B (Bone Morphogenetic Protein Receptor Type 1B)
A key receptor in bone morphogenetic protein signaling, involved in skeletal development and associated with acromesomelic dysplasia and brachydactyly.
Gene Information Card
| Symbol | BMPR1B |
|---|---|
| Full Name | Bone Morphogenetic Protein Receptor Type 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.3 |
| NCBI Gene ID | 658 ncbi.nlm.nih.gov/gene/658 |
| Ensembl ID | ENSG00000138696 |
| UniProt ID | O00238 |
| OMIM ID | 603248 |
| HGNC ID | 1077 |
| Aliases | ALK-6, CDw293, ALK6 |
Description
BMPR1B encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The encoded protein forms a heteromeric complex with type II BMP receptors to transduce BMP signals, regulating cell proliferation, differentiation, and apoptosis. It is critical for chondrogenesis and skeletal patterning. Mutations in BMPR1B cause acromesomelic dysplasia and brachydactyly type A2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acromesomelic dysplasia, Demirhan type | Loss-of-function mutations impair BMP signaling, leading to abnormal limb and digit development | OMIM #609441 |
| Brachydactyly type A2 | Dominant-negative or loss-of-function mutations disrupt BMPR1B-mediated signaling in digit formation | OMIM #112600 |
| Multiple epiphyseal dysplasia | Missense mutations affecting the kinase domain reduce receptor activity, causing joint and bone abnormalities | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 15.3 | Medium |
| Lung | 8.2 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Saos-2 (osteosarcoma) | 14.0 | High expression |
| SW1353 (chondrosarcoma) | 11.2 | Moderate expression |
| A549 (lung carcinoma) | 7.8 | Low expression |
| HEK 293 (embryonic kidney) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.145C>T (p.Arg49Cys) | Missense | <0.01% | Dominant-negative; associated with brachydactyly type A2 |
| c.823G>A (p.Glu275Lys) | Missense | <0.01% | Loss of kinase activity; causes acromesomelic dysplasia |
| c.1120T>C (p.Cys374Arg) | Missense | <0.01% | Impaired receptor dimerization; linked to multiple epiphyseal dysplasia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the kinase domain (e.g., p.Glu275Lys) reduce or abolish serine/threonine kinase activity, impairing BMP signal transduction.
Gain of Function (GOF)
Not reported in BMPR1B; gain-of-function mutations are rare and not documented in major databases.
Dominant Negative (DN)
Mutations such as p.Arg49Cys in the extracellular domain interfere with wild-type receptor function, leading to dominant-negative effects in digit patterning.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling by BMP (Reactome: R-HSA-201451)
Protein Summary
BMPR1B is a 502-amino acid transmembrane receptor with an N-terminal extracellular ligand-binding domain, a single transmembrane helix, and a C-terminal intracellular serine/threonine kinase domain. It binds BMP ligands (e.g., BMP2, BMP4, GDF5) and phosphorylates SMAD1/5/8 to regulate gene expression. The protein is essential for endochondral ossification and joint formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMPR1B Knockout HEK293 Cell Line | EDC07612 | Human | 658 | Details Get a Quote |
| BMPR1B Knockout A-549 Cell Line | EDJ-KQ18570 | Human | 658 | Details Get a Quote |
| BMPR1B Knockout HeLa Cell Line | EDJ-KQ18571 | Human | 658 | Details Get a Quote |
| BMPR1B Knockout HCT 116 Cell Line | EDJ-KQ69692 | Human | 658 | Details Get a Quote |
| BMPR1B Knockout HAP1 Cell Line | EDC08072 | Human | 658 | Details Get a Quote |
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