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GeneBe

BDKRB1

bradykinin receptor B1, the group of Bradykinin receptors

Basic information

Region (hg38): 14:96256209-96268967

Links

ENSG00000100739NCBI:623OMIM:600337HGNC:1029Uniprot:P46663AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BDKRB1 gene.

  • Inborn genetic diseases (22 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BDKRB1 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
0
missense
21
clinvar
2
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 21 2 0

Variants in BDKRB1

This is a list of pathogenic ClinVar variants found in the BDKRB1 region.

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

Position Type Phenotype Significance ClinVar
14-96263767-G-C Inborn genetic diseases Uncertain significance (Aug 02, 2023)2615353
14-96263783-A-T Inborn genetic diseases Uncertain significance (Mar 28, 2023)2563690
14-96263881-C-T Inborn genetic diseases Uncertain significance (Jul 13, 2022)2223038
14-96263894-T-C Inborn genetic diseases Uncertain significance (Nov 16, 2021)2376835
14-96263930-A-C Inborn genetic diseases Uncertain significance (Apr 05, 2023)2509192
14-96264024-C-G Inborn genetic diseases Uncertain significance (Dec 19, 2022)2361905
14-96264055-A-G Inborn genetic diseases Uncertain significance (Nov 08, 2022)2385742
14-96264094-G-A Inborn genetic diseases Uncertain significance (Jan 24, 2023)2465352
14-96264109-A-G Inborn genetic diseases Uncertain significance (Dec 15, 2022)2214908
14-96264119-G-A Inborn genetic diseases Uncertain significance (Jun 06, 2022)2294106
14-96264157-G-A Inborn genetic diseases Uncertain significance (Dec 01, 2022)2404433
14-96264217-C-G Inborn genetic diseases Uncertain significance (Oct 26, 2022)2320931
14-96264252-C-G Inborn genetic diseases Uncertain significance (Jun 21, 2023)2605048
14-96264265-C-A Inborn genetic diseases Uncertain significance (Jun 18, 2021)2220497
14-96264266-A-G Inborn genetic diseases Uncertain significance (Jan 07, 2022)2357745
14-96264343-T-A Inborn genetic diseases Uncertain significance (Jan 10, 2022)2271339
14-96264365-C-T Inborn genetic diseases Uncertain significance (Sep 16, 2021)2250494
14-96264374-C-T Inborn genetic diseases Uncertain significance (Jan 26, 2023)2467990
14-96264376-C-T Inborn genetic diseases Uncertain significance (Jun 26, 2023)2597810
14-96264469-T-C Inborn genetic diseases Uncertain significance (Jan 23, 2023)2472133
14-96264527-G-A Inborn genetic diseases Likely benign (Nov 21, 2022)2366170
14-96264610-G-C Likely benign (Jun 28, 2017)788119
14-96264688-G-C Inborn genetic diseases Uncertain significance (Jun 22, 2021)2344039

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BDKRB1protein_codingprotein_codingENST00000216629 113144
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004690.88812501247321257480.00293
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1062152111.020.00001282294
Missense in Polyphen6570.5860.92087848
Synonymous0.4858489.80.9350.00000505764
Loss of Function1.3759.580.5225.84e-775

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002670.00267
Ashkenazi Jewish0.01090.0108
East Asian0.0003260.000326
Finnish0.002400.00241
European (Non-Finnish)0.003340.00334
Middle Eastern0.0003260.000326
South Asian0.003760.00373
Other0.002120.00212

dbNSFP

Source: dbNSFP

Function
FUNCTION: This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.;
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);Calcium signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;Peptide GPCRs;Vitamin D Receptor Pathway;Dengue-2 Interactions with Complement and Coagulation Cascades;GPCRs, Class A Rhodopsin-like;Regulation of Actin Cytoskeleton;ACE Inhibitor Pathway;Complement and Coagulation Cascades;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.186

Intolerance Scores

loftool
0.768
rvis_EVS
-0.04
rvis_percentile_EVS
50.45

Haploinsufficiency Scores

pHI
0.0911
hipred
N
hipred_score
0.287
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.798

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bdkrb1
Phenotype
immune 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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);

Gene ontology

Biological process
negative regulation of protein phosphorylation;positive regulation of leukocyte migration;inflammatory response;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;protein kinase C-activating G protein-coupled receptor signaling pathway;response to mechanical stimulus;cell migration;sensory perception of pain;negative regulation of cell growth;response to lipopolysaccharide;negative regulation of blood pressure;positive regulation of release of sequestered calcium ion into cytosol
Cellular component
endoplasmic reticulum;plasma membrane;integral component of plasma membrane;neuron projection
Molecular function
bradykinin receptor activity;protein binding;peptide binding