BDKRB1

protein-coding

bradykinin receptor B1, the group of Bradykinin receptors

Gene summary

Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020]

MANE transcript

NM_000710.4

Inheritance

—

ClinVar variants

U:58B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr14:96,256,210-96,268,967

External References & Databases

Ensembl (ENSG00000100739)

Transcript & Mutation Effects

hg38 • Region Span ~12.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BDKRB1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000710.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			58 clinvar	5 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	5	0	63

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000710.4	RefSeq	NP_000701.2	1	MANE Select
ENST00000216629.11	Ensembl	ENSP00000216629.6	1	MANE Select
NM_001386007.1	RefSeq	NP_001372936.1	1	Standard
ENST00000553356.1	Ensembl	ENSP00000452064.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

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

Molecular Function

bradykinin receptor activity
protein binding
peptide binding

Cellular Component

endoplasmic reticulum
plasma membrane
integral component of plasma membrane
neuron projection

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000216629
Coding exons: 1
Length: 13144
Individuals with no LoFs: 125012
Homozygous LoFs: 4
Heterozygous LoFs: 732
Defined: 125748
p: 0.00293

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.106	215	211	1.02	0.0000128	2294
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0.011	0.011	notable
East Asian	0.00033	0.00033	rare
Finnish	0.0024	0.0024	notable
European (Non-Finnish)	0.0033	0.0033	notable
South Asian	0.0038	0.0037	notable
Other	0.0021	0.0021	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.;

Recessive Scores

pRec: 0.186

Intolerance Scores

LoFtool: 0.768
RVIS EVS: -0.04
RVIS percentile EVS: 50.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.798

Gene Damage Prediction

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