BMPR1B Gene

BMPR1B Gene

Gene Overview

<div class="infobox infobox-gene"> [@bmp2019]
<table> [@bmprb2018]
<tr><th colspan="2" style="background:#e8f4ea;"><b>BMPR1B</b></th></tr> [@bmpsmad2020]
<tr><td><b>Full Name</b></td><td>Bone Morphogenetic Protein Receptor Type 1B</td></tr> [@bmprb2017]
<tr><td><b>Chromosomal Location</b></td><td>4q22.3</td></tr> [@bmp2019a]
<tr><td><b>NCBI Gene ID</b></td><td>[655](https://www.ncbi.nlm.nih.gov/gene/655)</td></tr> [@neural2018]
<tr><td><b>OMIM</b></td><td>[604451](https://www.omim.org/entry/604451)</td></tr> [@bmp2020]
<tr><td><b>Ensembl ID</b></td><td>ENS00000138639</td></tr> [@bmp2017]
<tr><td><b>UniProt</b></td><td>[O00221](https://www.uniprot.org/uniprot/O00221)</td></tr> [@therapeutic2021]
<tr><td><b>Associated Diseases</b></td><td>Parkinson's Disease, Atherosclerosis, Pulmonary Arterial Hypertension, Skeletal Disorders</td></tr> [@bmprb2019]
</table>
</div>

Overview

BMPR1B Gene

Gene Overview

<div class="infobox infobox-gene"> [@bmp2019]
<table> [@bmprb2018]
<tr><th colspan="2" style="background:#e8f4ea;"><b>BMPR1B</b></th></tr> [@bmpsmad2020]
<tr><td><b>Full Name</b></td><td>Bone Morphogenetic Protein Receptor Type 1B</td></tr> [@bmprb2017]
<tr><td><b>Chromosomal Location</b></td><td>4q22.3</td></tr> [@bmp2019a]
<tr><td><b>NCBI Gene ID</b></td><td>[655](https://www.ncbi.nlm.nih.gov/gene/655)</td></tr> [@neural2018]
<tr><td><b>OMIM</b></td><td>[604451](https://www.omim.org/entry/604451)</td></tr> [@bmp2020]
<tr><td><b>Ensembl ID</b></td><td>ENS00000138639</td></tr> [@bmp2017]
<tr><td><b>UniProt</b></td><td>[O00221](https://www.uniprot.org/uniprot/O00221)</td></tr> [@therapeutic2021]
<tr><td><b>Associated Diseases</b></td><td>Parkinson's Disease, Atherosclerosis, Pulmonary Arterial Hypertension, Skeletal Disorders</td></tr> [@bmprb2019]
</table>
</div>

Overview

BMPR1A is a human gene whose product bMPR1B (Bone Morphogenetic Protein Receptor Type 1B) is a serine/threonine receptor kinase that transduces signals from bone morphogenetic proteins (BMPs), which are members of the TGF-beta superfamily. BMPR1B forms complexes with BMPR2 to initiate downstream signaling through SMAD1/5/8 phosphorylation. Variants in BMPR1A have been implicated in Neurodegenerative Diseases, Other Conditions. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.

Function

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B) is a serine/threonine receptor kinase that transduces signals from bone morphogenetic proteins (BMPs), which are members of the TGF-β superfamily. BMPR1B forms complexes with BMPR2 to initiate downstream signaling through SMAD1/5/8 phosphorylation.

In the nervous system, BMPR1B plays important roles in:

• Neural crest cell development and migration
• Dopaminergic neuron differentiation
• Synaptic plasticity and function
• Neurogenesis and gliogenesis
• Neuroprotection against oxidative stress

Disease Associations

Neurodegenerative Diseases

Parkinson's Disease:

• BMP signaling provides neuroprotection to dopaminergic neurons
• BMPR1B variants associated with PD risk in some populations
• BMP-SMAD signaling intersects with [LRRK2](/entities/lrrk2) and PINK1 pathways
• May modulate [α-synuclein](/proteins/alpha-synuclein) aggregation

• BMP signaling involved in amyloid processing
• May regulate [tau](/proteins/tau) phosphorylation
• Implicated in synaptic plasticity deficits

Other Conditions

Atherosclerosis:

• BMPR1B in vascular smooth muscle cell regulation
• BMP signaling in vascular calcification

• BMPR2 signaling more prominent, BMPR1B as modifier
• Genetic variants influence disease severity

• BMPR1B mutations cause skeletal dysplasias
• Brachydactyly type A1
• Tibial hemimelia

Expression

BMPR1B expression in the nervous system:

• High expression: Substantia nigra (dopaminergic neurons), [hippocampus](/brain-regions/hippocampus)
• Moderate expression: Cerebral [cortex](/brain-regions/cortex), basal ganglia, cerebellum
• Cellular localization: Neuronal and glial cell membranes

Therapeutic Implications

• BMP agonists may protect dopaminergic neurons in PD
• Gene therapy approaches using BMPs in development
• Small molecule activators of BMP signaling
• Cell replacement therapies incorporating BMP signaling
• BMP Signaling Pathway
• BMPR1A
• BMPR2
• SMAD1
• SMAD5
• [Parkinson's Disease](/diseases/parkinsons-disease)
• TGF-beta Signaling

External Links

• [NCBI Gene: BMPR1B](https://www.ncbi.nlm.nih.gov/gene/655)
• [UniProt: O00221](https://www.uniprot.org/uniprot/O00221)
• [Ensembl: ENS00000138639](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENS00000138639)
• [GeneCards: BMPR1B](https://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1B)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving BMPR1B Gene discovered through SciDEX knowledge graph analysis: