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

  • Bradykinin Receptor B2 2 3 5
  • B2 Bradykinin Receptor 3 4
  • BK-2 Receptor 3 4
  • BK-2 2 3
  • BKR2 3 4
  • B2R 3 4
  • BDKRB2 5
  • BRB2 3
  • BK2 3

External Ids for BDKRB2 Gene

Previous GeneCards Identifiers for BDKRB2 Gene

  • GC14P094182
  • GC14P090487
  • GC14P094661
  • GC14P095740
  • GC14P096671
  • GC14P076856

Summaries for BDKRB2 Gene

Entrez Gene Summary 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 RET signaling and Signaling by GPCR. 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.

Tocris Summary for BDKRB2 Gene

  • 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.

Gene Wiki entry for BDKRB2 Gene

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 600.7 +0.7 739 3.7 HNRNPL CREB1 ATF7 PRDM10 ZNF629 KDM1A ZNF692 ZHX2 FOXA1 ZIC2 BDKRB2 ENSG00000258691 BDKRB1 ENSG00000258412
GH14J096238 Promoter/Enhancer 0.9 EPDnew ENCODE 605.2 +34.9 34917 2.4 ATF7 CEBPB ATF2 EP300 RFX5 STAT3 TBP TCF7L2 ZKSCAN1 SMARCA4 BDKRB2 ENSG00000258793 lnc-ATG2B-2 ENSG00000259036 BDKRB1 ENSG00000258691
GH14J096243 Promoter 0.5 EPDnew 600.3 +38.8 38803 0.1 ZBTB12 E2F8 lnc-ATG2B-2 BDKRB2 ENSG00000259036 BDKRB1 ENSG00000258691
GH14J096237 Promoter 0.3 EPDnew 600.3 +32.5 32485 0.1 BDKRB2 ENSG00000259036 lnc-ATG2B-2 BDKRB1 ENSG00000258691
GH14J096241 Promoter 0.3 EPDnew 600.3 +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

Genomic Locations for BDKRB2 Gene
chr14:96,204,679-96,244,166
(GRCh38/hg38)
Size:
39,488 bases
Orientation:
Plus strand
chr14:96,671,016-96,710,666
(GRCh37/hg19)
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:
BDKRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDKRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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.

    Alternative splice isoforms for BDKRB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BDKRB2 Gene

Post-translational modifications for BDKRB2 Gene

  • Glycosylation at Asn30, Asn39, and Asn207
  • Modification sites at PhosphoSitePlus

Other Protein References for BDKRB2 Gene

Antibody 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

P30411

UniProtKB/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.
genes like me logo Genes that share domains with BDKRB2: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with BDKRB2: view
genes like me logo Genes that share phenotypes with BDKRB2: view

Animal Models for BDKRB2 Gene

MGI Knock Outs for BDKRB2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BDKRB2 gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BDKRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005768 endosome IDA 17077303
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7916737
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BDKRB2: view

Pathways & Interactions for BDKRB2 Gene

genes like me logo Genes that share pathways with BDKRB2: view

SIGNOR curated interactions for BDKRB2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with BDKRB2: view

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, antagonist 21
Lisinopril Approved, Investigational Pharma ACE inhibitor 131
Atorvastatin Approved Pharma Inhibitor, Competitive 893
Enalapril Approved, Vet_approved Pharma 143
Anatibant Investigational Pharma Antagonist, Target, antagonist 0

(22) Additional Compounds for BDKRB2 Gene - From: Novoseek and Tocris

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
genes like me logo Genes that share compounds with BDKRB2: view

Drug Products

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDKRB2

Alternative Splicing Database (ASD) splice patterns (SP) for BDKRB2 Gene

No ASD Table

Relevant External Links for BDKRB2 Gene

GeneLoc Exon Structure for
BDKRB2

Expression for BDKRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BDKRB2 Gene

Protein differential expression in normal tissues from HIPED for BDKRB2 Gene

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



Protein tissue co-expression partners for BDKRB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDKRB2

SOURCE GeneReport for Unigene cluster for BDKRB2 Gene:

Hs.654542

mRNA 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(2.8)
  • Kidney(2.5)
  • Heart(2.2)
  • Blood(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with BDKRB2: view

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.

Orthologs for BDKRB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BDKRB2 30 31
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BDKRB2 30 31
  • 87.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BDKRB2 30 31
  • 85.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bdkrb2 30 17 31
  • 83.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bdkrb2 30
  • 81.97 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia BDKRB2 31
  • 66 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BDKRB2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BDKRB2 30 31
  • 62.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BDKRB2 31
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bdkrb2 30
  • 59.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330960 30
  • 55.42 (n)
CABZ01058422.1 31
  • 44 (a)
OneToMany
BDKRB2 (1 of 2) 31
  • 38 (a)
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

Paralogs for BDKRB2 Gene

(20) SIMAP similar genes for BDKRB2 Gene using alignment to 2 proteins:

  • BKRB2_HUMAN
  • L8EC45_HUMAN
genes like me logo Genes that share paralogs with BDKRB2: view

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
710710 Likely Benign: not provided 96,241,390(+) G/A SYNONYMOUS_VARIANT
731119 Benign: not provided 96,241,261(+) T/C SYNONYMOUS_VARIANT
787954 Benign: not provided 96,241,389(+) G/A MISSENSE_VARIANT
827588 Not Provided: Hereditary angioedema with normal C1Inh 96,241,525(+) T/A THREE_PRIME_UTR_VARIANT
rs1046248 - p.Arg14Cys

Additional dbSNP identifiers (rs#s) for BDKRB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BDKRB2 Gene

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

Variation tolerance for BDKRB2 Gene

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

Human Gene Mutation Database (HGMD)
BDKRB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BDKRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDKRB2 Gene

Disorders for BDKRB2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for BDKRB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary angioedema
  • hane
angioedema
  • angioneurotic edema
brain edema
  • intracranial swelling
c1 inhibitor deficiency
  • quincke edema
placenta accreta
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BDKRB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BDKRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BDKRB2 Gene

Publications for BDKRB2 Gene

  1. Human bradykinin B2 receptor: nucleotide sequence analysis and assignment to chromosome 14. (PMID: 7916737) Powell SJ … Graham A (Genomics 1993) 2 3 4 23
  2. 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
  3. 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
  4. 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
  5. Dipsogenic genes associated with weight changes during Ironman Triathlons. (PMID: 16950802) Saunders CJ … Collins M (Human molecular genetics 2006) 3 23 41

Products for BDKRB2 Gene

  • Signalway ELISA kits for BDKRB2

Sources for BDKRB2 Gene