BDKRB2
Bradykinin Receptor B2
Gene Information Card
| Symbol | BDKRB2 |
|---|---|
| Full Name | Bradykinin Receptor B2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 624 ncbi.nlm.nih.gov/gene/624 |
| Ensembl ID | ENSG00000168398 |
| UniProt ID | P30411 |
| OMIM ID | 113503 |
| HGNC ID | 1030 |
| Aliases | B2R, BK-2, BKR2, BRB2 |
Description
BDKRB2 encodes the bradykinin receptor B2, a G protein-coupled receptor that mediates the effects of bradykinin, a potent vasoactive peptide. The receptor is involved in inflammation, pain, vasodilation, and vascular permeability. It is a key target in hereditary angioedema and cardiovascular disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Angioedema (HAE) | Gain-of-function mutations in BDKRB2 increase bradykinin signaling, leading to excessive vascular permeability and edema. | ClinVar, OMIM |
| Angioedema (ACE inhibitor-induced) | ACE inhibitors reduce bradykinin degradation, enhancing B2 receptor activation and causing angioedema. | ClinVar, OMIM |
| Cardiovascular disease (hypertension, heart failure) | BDKRB2 polymorphisms alter bradykinin-mediated vasodilation and blood pressure regulation. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 nTPM | Medium |
| Kidney | 10.2 nTPM | Medium |
| Lung | 8.7 nTPM | Medium |
| Heart | 7.3 nTPM | Low |
| Liver | 2.1 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 nTPM | High expression in transfected cells |
| A549 | 6.5 nTPM | Moderate expression |
| HUVEC | 9.8 nTPM | Endothelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.181C>T (p.Arg61Cys) | Missense | <0.01% (gnomAD) | Gain-of-function; associated with hereditary angioedema |
| c.200G>A (p.Arg67His) | Missense | <0.01% | Gain-of-function; increased bradykinin response |
| c.−9C>T (promoter) | Regulatory | 1-2% (population) | Alters transcription; linked to hypertension |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may reduce bradykinin signaling, potentially affecting vasodilation and inflammation.
Gain of Function (GOF)
Gain-of-function mutations (e.g., p.Arg61Cys, p.Arg67His) enhance receptor activity, leading to hereditary angioedema.
Dominant Negative (DN)
No dominant-negative mutations have been reported for BDKRB2.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • bradykinin receptor activity |
| • signal transduction | • inflammatory response |
| • vasodilation | • cell surface receptor signaling pathway |
Pathways
• Bradykinin signaling pathway
• Complement and coagulation cascades
• GPCR downstream signaling
• Inflammation mediated by chemokine and cytokine signaling
Protein Summary
The bradykinin receptor B2 (B2R) is a 391-amino acid G protein-coupled receptor with seven transmembrane domains. It is activated by bradykinin and kallidin, leading to phospholipase C activation, calcium mobilization, and nitric oxide production. B2R is expressed in endothelial cells, smooth muscle, and various tissues, mediating vasodilation, increased vascular permeability, and pain. It is a therapeutic target for hereditary angioedema (icatibant, a B2 receptor antagonist) and is implicated in cardiovascular and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BDKRB2 Knockout HEK293 Cell Line | EDJ-KQ1601 | Human | 624 | Details Get a Quote |
| BDKRB2 Knockout A-549 Cell Line | EDJ-KQ21285 | Human | 624 | Details Get a Quote |
| BDKRB2 Knockout HeLa Cell Line | EDJ-KQ21286 | Human | 624 | Details Get a Quote |
| BDKRB2 Knockout HCT 116 Cell Line | EDJ-KQ69678 | Human | 624 | Details Get a Quote |
