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GeneBe

BDKRB2

bradykinin receptor B2, the group of Bradykinin receptors

Basic information

Region (hg38): 14:96204678-96244166

Links

ENSG00000168398NCBI:624OMIM:113503HGNC:1030Uniprot:P30411AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BDKRB2 gene.

  • Inborn genetic diseases (15 variants)
  • not provided (3 variants)
  • Hereditary angioedema with normal C1Inh (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BDKRB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
clinvar
2
missense
13
clinvar
1
clinvar
1
clinvar
15
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 13 3 2

Variants in BDKRB2

This is a list of pathogenic ClinVar variants found in the BDKRB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-96237148-G-A Inborn genetic diseases Likely benign (Jun 29, 2023)2592102
14-96240513-C-A Inborn genetic diseases Uncertain significance (Mar 06, 2023)2494602
14-96240563-C-G Inborn genetic diseases Uncertain significance (Jan 26, 2023)2479616
14-96240629-G-A Inborn genetic diseases Uncertain significance (Sep 17, 2021)2203931
14-96240692-G-A Inborn genetic diseases Uncertain significance (Sep 17, 2021)2385151
14-96240794-T-C Inborn genetic diseases Uncertain significance (Apr 07, 2022)2281588
14-96240839-G-A Inborn genetic diseases Uncertain significance (Mar 01, 2023)2491907
14-96240927-A-C Inborn genetic diseases Uncertain significance (Mar 29, 2023)2530836
14-96240949-C-A Inborn genetic diseases Uncertain significance (Apr 05, 2023)2511620
14-96240954-C-A Inborn genetic diseases Uncertain significance (Feb 03, 2022)2404496
14-96241173-G-T Inborn genetic diseases Uncertain significance (Jan 26, 2022)2273606
14-96241190-A-G Inborn genetic diseases Likely benign (Jan 10, 2023)2470788
14-96241247-G-A Inborn genetic diseases Uncertain significance (Sep 17, 2021)2204245
14-96241261-T-C Benign (Jan 08, 2018)731119
14-96241262-G-A Inborn genetic diseases Uncertain significance (Dec 12, 2022)2402943
14-96241389-G-A Benign (Aug 16, 2018)787954
14-96241390-G-A Likely benign (Jun 20, 2018)710710
14-96241442-A-G Inborn genetic diseases Uncertain significance (Mar 22, 2023)2510272
14-96241525-T-A Hereditary angioedema with normal C1Inh not provided (Feb 01, 2020)827588

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BDKRB2protein_codingprotein_codingENST00000306005 239651
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1190.858125723051257280.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9811982410.8220.00001502550
Missense in Polyphen6393.1110.676621070
Synonymous-0.001081021021.000.00000684781
Loss of Function1.9539.490.3164.07e-796

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.000.00
South Asian0.00004920.0000327
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system.;
Pathway
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Complement and coagulation cascades - Homo sapiens (human);Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;Peptide GPCRs;Nifedipine Activity;GPCRs, Class A Rhodopsin-like;Regulation of Actin Cytoskeleton;ACE Inhibitor Pathway;Signaling by GPCR;Signal Transduction;corticosteroids and cardioprotection;ion channels and their functional role in vascular endothelium;vegf hypoxia and angiogenesis;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);actions of nitric oxide in the heart;GPCR ligand binding;Direct p53 effectors;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling;Validated transcriptional targets of deltaNp63 isoforms (Consensus)

Recessive Scores

pRec
0.330

Intolerance Scores

loftool
0.462
rvis_EVS
0.4
rvis_percentile_EVS
76.36

Haploinsufficiency Scores

pHI
0.128
hipred
N
hipred_score
0.282
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.745

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bdkrb2
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);

Gene ontology

Biological process
smooth muscle contraction;inflammatory response;cell surface receptor signaling pathway;transmembrane receptor protein tyrosine kinase signaling pathway;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;blood circulation;response to salt stress;regulation of vasoconstriction;negative regulation of peptidyl-serine phosphorylation;vasoconstriction;vasodilation;regulation of vascular permeability;arachidonic acid secretion;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator
Cellular component
endosome;plasma membrane;integral component of plasma membrane
Molecular function
protease binding;phosphatidylinositol phospholipase C activity;bradykinin receptor activity;protein binding;type 1 angiotensin receptor binding;protein heterodimerization activity