BDKRB1

bradykinin receptor B1, the group of Bradykinin receptors

Basic information

Region (hg38): 14:96256210-96268967

Links

ENSG00000100739 ∙ NCBI:623 ∙ OMIM:600337 ∙ HGNC:1029 ∙ Uniprot:P46663 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			23	3		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	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
14-96263693-C-A		not specified	Uncertain significance (Jun 18, 2024)
14-96263710-C-T		not specified	Likely benign (Mar 21, 2024)
14-96263735-T-C		not specified	Uncertain significance (Jun 16, 2024)
14-96263767-G-C		not specified	Uncertain significance (Aug 02, 2023)
14-96263783-A-T		not specified	Uncertain significance (Mar 28, 2023)
14-96263878-C-T		not specified	Uncertain significance (Apr 23, 2024)
14-96263881-C-T		not specified	Uncertain significance (Jul 13, 2022)
14-96263894-T-C		not specified	Uncertain significance (Nov 16, 2021)
14-96263930-A-C		not specified	Uncertain significance (Apr 05, 2023)
14-96264024-C-G		not specified	Uncertain significance (Dec 19, 2022)
14-96264025-G-A		not specified	Uncertain significance (Oct 06, 2023)
14-96264055-A-G		not specified	Uncertain significance (Nov 08, 2022)
14-96264086-G-A		not specified	Uncertain significance (Jun 16, 2024)
14-96264094-G-A		not specified	Uncertain significance (Jan 24, 2023)
14-96264109-A-G		not specified	Uncertain significance (Dec 15, 2022)
14-96264119-G-A		not specified	Uncertain significance (Jun 06, 2022)
14-96264133-C-T		not specified	Uncertain significance (Nov 18, 2023)
14-96264145-C-T		not specified	Uncertain significance (Mar 18, 2024)
14-96264157-G-A		not specified	Uncertain significance (Dec 01, 2022)
14-96264209-G-A		not specified	Uncertain significance (Mar 15, 2024)
14-96264217-C-G		not specified	Uncertain significance (Oct 26, 2022)
14-96264252-C-G		not specified	Uncertain significance (Jun 21, 2023)
14-96264265-C-A		not specified	Uncertain significance (Jun 18, 2021)
14-96264266-A-G		not specified	Uncertain significance (Jan 07, 2022)
14-96264343-T-A		not specified	Uncertain significance (Jan 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BDKRB1	protein_coding	protein_coding	ENST00000216629	1	13144

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00469	0.888	125012	4	732	125748	0.00293

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.106	215	211	1.02	0.0000128	2294
Missense in Polyphen		65	70.586	0.92087		848
Synonymous	0.485	84	89.8	0.935	0.00000505	764
Loss of Function	1.37	5	9.58	0.522	5.84e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00267	0.00267
Ashkenazi Jewish	0.0109	0.0108
East Asian	0.000326	0.000326
Finnish	0.00240	0.00241
European (Non-Finnish)	0.00334	0.00334
Middle Eastern	0.000326	0.000326
South Asian	0.00376	0.00373
Other	0.00212	0.00212

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

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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