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This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiologic conditions such as trauma and inflammation, and binds to its kinin receptors, B1 and B2. The B2 receptor associates with G proteins that stimulate... See more...
Aliases for BDKRB2 Gene
Aliases for BDKRB2 Gene
External Ids for BDKRB2 Gene
- HGNC: 1030
- NCBI Entrez Gene: 624
- Ensembl: ENSG00000168398
- OMIM®: 113503
- UniProtKB/Swiss-Prot: P30411
Previous GeneCards Identifiers for BDKRB2 Gene
- GC14P094182
- GC14P090487
- GC14P094661
- GC14P095740
- GC14P096671
- GC14P076856
Summaries for BDKRB2 Gene
-
This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiologic conditions such as trauma and inflammation, and binds to its kinin receptors, B1 and B2. The B2 receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. [provided by RefSeq, Apr 2020]
GeneCards Summary for BDKRB2 Gene
BDKRB2 (Bradykinin Receptor B2) is a Protein Coding gene. Diseases associated with BDKRB2 include Hereditary Angioedema and Angioedema. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and protease binding. An important paralog of this gene is BDKRB1.
UniProtKB/Swiss-Prot Summary for BDKRB2 Gene
-
Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system.
-
Bradykinin and related kinins are a family of small peptides which act as mediators of pain and inflammation. They exert a variety of biological effects on the endothelium and peripheral circulation through their action on two bradykinin receptor subtypes: B1 and B2.
Additional gene information for BDKRB2 Gene
- HGNC (1030)
- NCBI Entrez Gene (624)
- Ensembl (ENSG00000168398)
- OMIM® (113503)
- UniProtKB/Swiss-Prot (P30411)
- Open Targets Platform(ENSG00000168398)
- Monarch Initiative
- Search for BDKRB2 at DataMed
- Search for BDKRB2 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BDKRB2 Gene
Genomics for BDKRB2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BDKRB2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH14J096203 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +0.7 | 739 | 3.7 | FEZF1 ZNF217 SIX4 ELF1 ZIC2 CEBPB SIN3A MBD2 MAX SMAD4 | BDKRB2 ENSG00000258691 BDKRB1 ENSG00000258412 | |
| GH14J096238 | Promoter/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 255.2 | +34.9 | 34917 | 2.4 | CEBPB EP300 RFX5 STAT3 TBP TCF7L2 ZKSCAN1 ATF2 ZFP36 KLF1 | BDKRB2 ENSG00000258793 lnc-ATG2B-2 ENSG00000259036 BDKRB1 ENSG00000258691 | |
| GH14J096243 | Promoter | 0.5 | EPDnew | 250.3 | +38.8 | 38803 | 0.1 | ZBTB12 E2F8 | lnc-ATG2B-2 BDKRB2 ENSG00000259036 BDKRB1 ENSG00000258691 | |
| GH14J096237 | Promoter | 0.3 | EPDnew | 250.3 | +32.5 | 32485 | 0.1 | BDKRB2 ENSG00000259036 lnc-ATG2B-2 BDKRB1 ENSG00000258691 | ||
| GH14J096241 | Promoter | 0.3 | EPDnew | 250.3 | +36.7 | 36693 | 0.1 | BDKRB2 lnc-ATG2B-2 ENSG00000259036 BDKRB1 ENSG00000258691 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BDKRB2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BDKRB2
- Top Transcription factor binding sites by QIAGEN in the BDKRB2 gene promoter:
-
- CREB
- deltaCREB
- Nkx2-5
- STAT1alpha
Genomic Locations for BDKRB2 Gene
Latest Assembly
- chr14:96,204,679-96,244,166
- (GRCh38/hg38)
- Size:
- 39,488 bases
- Orientation:
- Plus strand
Previous Assembly
- chr14:96,671,176-96,710,501
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 39,326 bases
- Orientation:
- Plus strand
- chr14:96,671,016-96,710,666
- (GRCh37/hg19 by Ensembl)
- Size:
- 39,651 bases
- Orientation:
- Plus strand
Genomic View for BDKRB2 Gene
Genes around BDKRB2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.2 by HGNC
- 14q32.2 by Entrez Gene
- 14q32.2 by Ensembl
BDKRB2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BDKRB2 Gene
Proteins for BDKRB2 Gene
-
Protein details for BDKRB2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P30411-BKRB2_HUMAN
- Recommended name:
- B2 bradykinin receptor
- Protein Accession:
- P30411
Protein attributes for BDKRB2 Gene
- Size:
- 391 amino acids
- Molecular mass:
- 44461 Da
- Quaternary structure:
-
- Forms a complex with PECAM1 and GNAQ. Interacts with PECAM1.
Protein Expression for BDKRB2 Gene
Post-translational modifications for BDKRB2 Gene
Other Protein References for BDKRB2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences BDKRB2/Bradykinin B2 Receptor Antibody
- G Biosciences Immunotag™ BDKRB2 Antibody
- Novus Biologicals Antibodies for BDKRB2
- Invitrogen Antibodies for BDKRB2 (AFLGC-BDKRB2)
- antibodies-online: Show 37 available BDKRB2 Antibodies ranked by validation data
- Compare Top BDKRB2 Antibodies
-
Recommended
- 29 WB Antibodies (anti-human)
- 14 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 18 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 1 IF Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
-
Custom Antibody ServicesProSci Antibodies for BDKRB2
-
Santa Cruz Biotechnology (SCBT) Antibodies for BDKRB2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BDKRB2
- Origene Custom Protein Services for BDKRB2
- Novus Biologicals proteins for BDKRB2
-
Abcam proteins for BDKRB2
Assay products for research
- antibodies-online: Show 5 available BDKRB2 Elisa Kits ranked by validation data
- Compare Top BDKRB2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for BDKRB2 Gene
Domains & Families for BDKRB2 Gene
Gene Families for BDKRB2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- FDA approved drug targets
- G-protein coupled receptors
- Predicted membrane proteins
Protein Domains for BDKRB2 Gene
- InterPro:
- Blocks:
-
- Bradykinin receptor signature
- B2 bradykinin receptor signature
- ProtoNet:
Suggested Antigen Peptide Sequences for BDKRB2 Gene
- GenScript: Design optimal peptide antigens:
-
- B2 bradykinin receptor (BKRB2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P30411UniProtKB/Swiss-Prot:
BKRB2_HUMAN :- Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily.
- Family:
-
- Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily.
Function for BDKRB2 Gene
Molecular function for BDKRB2 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system.
- GENATLAS Biochemistry:
- bradykinin B2 receptor,sensitive to the full sequence of kinin of Lys-BK type,G protein coupled receptor superfamily,widely expressed,putatively exercying protective role in the end stage renal disease (ESRD)
Phenotypes From GWAS Catalog for BDKRB2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 17077303 |
| GO:0004435 | phosphatidylinositol phospholipase C activity | TAS | 8302267 |
| GO:0004930 | G protein-coupled receptor activity | IBA | 21873635 |
| GO:0004947 | bradykinin receptor activity | TAS,IDA | 17077303 |
| GO:0005515 | protein binding | IPI | 18672896 |
Phenotypes for BDKRB2 Gene
- MGI mutant phenotypes for BDKRB2:
-
inferred from 1 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- integument phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for BDKRB2:
-
- Increased gamma-H2AX phosphorylation
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased IL-8 secretion
- Increased G1 DNA content
- Increased replication of vaccinia virus (VACV)
- Increased viability with MLN4924 (a NAE inhibitor)
- G0/1 arrest
- Decreased telomerase activity
- Increased cell transformation
Animal Models for BDKRB2 Gene
- MGI Knock Outs for BDKRB2:
-
- Bdkrb2 Bdkrb2<tm1Jfh>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BDKRB2 - Starting at $85 >
- * BDKRB2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BDKRB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BDKRB2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BDKRB2
miRNA for BDKRB2 Gene
- miRTarBase miRNAs that target BDKRB2
-
- hsa-miR-129-5p (MIRT054128)
- hsa-miR-4659b-3p (MIRT723798)
- hsa-miR-4659a-3p (MIRT723799)
- hsa-miR-6875-3p (MIRT723800)
- hsa-miR-6809-3p (MIRT723801)
- hsa-miR-4753-3p (MIRT723802)
- hsa-miR-6868-3p (MIRT723803)
- hsa-miR-4448 (MIRT723804)
- hsa-miR-130b-5p (MIRT723805)
- hsa-miR-1248 (MIRT723806)
- hsa-miR-1237-3p (MIRT723807)
- hsa-miR-2276-5p (MIRT723808)
- hsa-miR-6892-3p (MIRT723809)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BDKRB2
- Browse OriGene Inhibitory RNA Products For BDKRB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDKRB2
Clone products for research
- Applied Biological Materials (abm): Clones for BDKRB2 - Starting at $45 >
- * BDKRB2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BDKRB2
- Addgene plasmids for BDKRB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BDKRB2
Cell Lines for research
-
Horizon Cell Lines for BDKRB2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BDKRB2 Gene
Localization for BDKRB2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BDKRB2 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Plasma membrane (3)
- Golgi apparatus (1)
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IDA | 17077303 |
| GO:0005794 | Golgi apparatus | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 7916737 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for BDKRB2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors |
.34
|
|
| 2 | ACE Inhibitor Pathway, Pharmacodynamics | ||
| 3 | Signaling by GPCR | ||
| 4 | Regulation of actin cytoskeleton | ||
| 5 | RET signaling | ||
Pathways by source for BDKRB2 Gene
5 BioSystems pathways for BDKRB2 Gene
9 Reactome pathways for BDKRB2 Gene
2 PharmGKB pathways for BDKRB2 Gene
10 KEGG pathways for BDKRB2 Gene
1 Qiagen pathway for BDKRB2 Gene
- eNOS Signaling
Interacting Proteins for BDKRB2 Gene
Selected Interacting proteins:
P30411-BKRB2_HUMAN
ENSP00000450482
for BDKRB2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BDKRB2
SIGNOR curated interactions for BDKRB2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006939 | smooth muscle contraction | IC | 17077303 |
| GO:0006954 | inflammatory response | IC | 17077303 |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007166 | cell surface receptor signaling pathway | TAS | 7916737 |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS | 10653985 |
Drugs & Compounds for BDKRB2 Gene
(78) Drugs for BDKRB2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Icatibant | Approved, Investigational | Pharma | Antagonist, Target | 23 | ||
| Lisinopril | Approved, Investigational | Pharma | ACE inhibitor | 135 | ||
| Atorvastatin | Approved | Pharma | 919 | |||
| Enalapril | Approved, Vet_approved | Pharma | 146 | |||
| Anatibant | Investigational | Pharma | Antagonist, Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| [Des-Arg9]-Bradykinin |
|
15958-92-6 |
|
|
(5) Tocris Compounds for BDKRB2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| [Des-Arg9]-Bradykinin | Bradykinin receptor agonist (B1 > B2) | 15958-92-6 |
| Bombinakinin M | Potent bradykinin receptor agonist | 509151-65-9 |
| Bradykinin | Endogenous agonist at bradykinin receptors (B2 > B1) | 58-82-2 |
| Lys-[Des-Arg9]Bradykinin | Selective B1 agonist | 71800-36-7 |
| Lys-Bradykinin | Potent bradykinin receptor agonist (B2 > B1) | 342-10-9 |
(11) ApexBio Compounds for BDKRB2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| [Phe8Ψ(CH-NH)-Arg9]-Bradykinin | 118122-39-7 | |
| Bombinakinin M | 509151-65-9 | |
| Bombinakinin-GAP | 573671-91-7 | |
| HOE 140 | 130308-48-4 | |
| Lys-[Des-Arg9]Bradykinin | 71800-36-7 | |
| Lys-Bradykinin | 342-10-9 | |
| MEN 11270 | 235082-52-7 | |
| R 715 | 185052-09-9 | |
| R 892 | 229030-05-1 | |
| Sar-[D-Phe8]-des-Arg9-Bradykinin | 126959-88-4 | |
| WIN 64338 hydrochloride | bradykinin B2 receptor antagonist, competitive | 163727-74-0 |
Transcripts for BDKRB2 Gene
mRNA/cDNA for BDKRB2 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000539359 1600 nts (view in UCSC)
- ENST00000542454 6845 nts (view in UCSC)
- ENST00000554311 3996 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BDKRB2 - Starting at $85 >
- * BDKRB2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BDKRB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BDKRB2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BDKRB2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BDKRB2
- Browse OriGene Inhibitory RNA Products For BDKRB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDKRB2
Clone products for research
- Applied Biological Materials (abm): Clones for BDKRB2 - Starting at $45 >
- * BDKRB2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BDKRB2
- Addgene plasmids for BDKRB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BDKRB2
Relevant External Links for BDKRB2 Gene
- GeneLoc Exon Structure for
- BDKRB2
Expression for BDKRB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Smooth Muscle (Muscoskeletal System)
- Lung (Respiratory System)
- Inner Cell Mass (Early Embryonic Tissues)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
This gene is overexpressed in Cervix (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BDKRB2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDKRB2
SOURCE GeneReport for Unigene cluster for BDKRB2 Gene:
Hs.654542mRNA Expression by UniProt/SwissProt for BDKRB2 Gene:
P30411-BKRB2_HUMAN
Tissue specificity:
Ubiquitous. Widespread in normal smooth muscle tissue and neurons.
Evidence on tissue expression from TISSUES for BDKRB2 Gene
- Lung(4.4)
- Nervous system(2.6)
- Kidney(2.3)
- Heart(2)
Primer products for research
-
OriGene qPCR primer pairs for BDKRB2
-
OriGene qPCR primer pairs and template standards for BDKRB2
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BDKRB2 Gene
Orthologs for BDKRB2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BDKRB2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BDKRB2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BDKRB2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bdkrb2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bdkrb2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BDKRB2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BDKRB2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BDKRB2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BDKRB2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bdkrb2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100330960 30 |
|
||
| CABZ01058422.1 31 |
|
OneToMany | |||
| BDKRB2 (1 of 2) 31 |
|
OneToMany |
- Species where no ortholog for BDKRB2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
- Worm (Caenorhabditis elegans)
Evolution for BDKRB2 Gene
- ENSEMBL:
- Gene Tree for BDKRB2 (if available)
- TreeFam:
- Gene Tree for BDKRB2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BDKRB2: view image
Paralogs for BDKRB2 Gene
(20) SIMAP similar genes for BDKRB2 Gene using alignment to 2 proteins:
- BKRB2_HUMAN
- L8EC45_HUMAN
Variants for BDKRB2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BDKRB2 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs143778180 | Likely Benign: not provided | 96,241,390(+) |
G/A NM_000623.3(BDKRB2):c.1062G>A (p.Gly354=) |
SYNONYMOUS | |
| rs1595266840 | Not Provided: Hereditary angioedema with normal C1Inh | 96,241,525(+) |
T/A NM_000623.3(BDKRB2):c.*21T>A |
THREE_PRIME_UTR | |
| rs2227279 | Benign: not provided. - | 96,241,389(+) |
G/Ap.Gly354Glu NM_000623.3(BDKRB2):c.1061G>A (p.Gly354Glu) |
MISSENSE | |
| rs2229415 | Benign: not provided | 96,241,261(+) |
T/C NM_000623.3(BDKRB2):c.933T>C (p.Asp311=) |
SYNONYMOUS | |
| rs1046248 | - |
p.Arg14Cys |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv262n27 | CNV | loss | 19166990 |
| esv1004672 | CNV | insertion | 20482838 |
| esv3635417 | CNV | gain | 21293372 |
| esv3635418 | CNV | gain | 21293372 |
| esv3635419 | CNV | loss | 21293372 |
| esv3635420 | CNV | gain | 21293372 |
| nsv1051786 | CNV | gain | 25217958 |
| nsv1416 | CNV | insertion | 18451855 |
| nsv515629 | CNV | loss | 19592680 |
| nsv565647 | CNV | loss | 21841781 |
| nsv983853 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.29;
53.16% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BDKRB2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDKRB2 Gene
Disorders for BDKRB2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hereditary angioedema |
|
|
| angioedema |
|
|
| brain edema |
|
|
| c1 inhibitor deficiency |
|
|
| placenta accreta |
|
|
Search BDKRB2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BDKRB2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BDKRB2 Gene
Publications for BDKRB2 Gene
- Human bradykinin B2 receptor: nucleotide sequence analysis and assignment to chromosome 14. (PMID: 7916737) Powell SJ … Graham A (Genomics 1993) 2 3 4 23
- Genetic influence on baroreflex sensitivity in normotensive young men. (PMID: 20300066) Xing-Sheng Y … Shu-Zheng L (American journal of hypertension 2010) 3 23 41
- Lack of association between ACE and bradykinin B2 receptor gene polymorphisms and ACE inhibitor-induced coughing in hypertensive Koreans. (PMID: 19744011) Woo SW … Lee SH (Journal of clinical pharmacy and therapeutics 2009) 3 23 41
- The bradykinin beta 2 receptor (BDKRB2) and endothelial nitric oxide synthase 3 (NOS3) genes and endurance performance during Ironman Triathlons. (PMID: 16461337) Saunders CJ … Collins M (Human molecular genetics 2006) 3 23 41
- Dipsogenic genes associated with weight changes during Ironman Triathlons. (PMID: 16950802) Saunders CJ … Collins M (Human molecular genetics 2006) 3 23 41
ExternalLinks
Products for BDKRB2 Gene
- View all 17 R&D Systems BDKRB2 (Bradykinin RB2/BDKRB2) Products
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Sources for BDKRB2 Gene
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