BDKRB2

bradykinin receptor B2, the group of Bradykinin receptors

Basic information

Region (hg38): 14:96204678-96244166

Links

ENSG00000168398 ∙ NCBI:624 ∙ OMIM:113503 ∙ HGNC:1030 ∙ Uniprot:P30411 ∙ 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 BDKRB2 gene.

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	1	2
missense			18	1	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1		1
Total	0	0	18	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		not specified	Likely benign (Jun 29, 2023)
14-96240403-C-T		not specified	Likely benign (Dec 20, 2023)
14-96240446-G-A		not specified	Uncertain significance (Jan 04, 2024)
14-96240513-C-A		not specified	Uncertain significance (Mar 06, 2023)
14-96240536-C-A		not specified	Uncertain significance (Feb 27, 2024)
14-96240563-C-G		not specified	Uncertain significance (Jan 26, 2023)
14-96240629-G-A		not specified	Uncertain significance (Sep 17, 2021)
14-96240692-G-A		not specified	Uncertain significance (Sep 17, 2021)
14-96240794-T-C		not specified	Uncertain significance (Apr 07, 2022)
14-96240839-G-A		not specified	Uncertain significance (Mar 01, 2023)
14-96240927-A-C		not specified	Uncertain significance (Mar 29, 2023)
14-96240949-C-A		not specified	Uncertain significance (Apr 05, 2023)
14-96240954-C-A		not specified	Uncertain significance (Feb 03, 2022)
14-96241083-G-A		not specified	Uncertain significance (Sep 29, 2023)
14-96241173-G-T		not specified	Uncertain significance (Jan 26, 2022)
14-96241190-A-G		not specified	Likely benign (Jan 10, 2023)
14-96241247-G-A		not specified	Uncertain significance (Sep 17, 2021)
14-96241261-T-C			Benign (Jan 08, 2018)
14-96241262-G-A		not specified	Uncertain significance (Dec 12, 2022)
14-96241389-G-A			Benign (Aug 16, 2018)
14-96241390-G-A			Likely benign (Jun 20, 2018)
14-96241440-G-A		not specified	Uncertain significance (Feb 26, 2024)
14-96241442-A-G		not specified	Uncertain significance (Mar 22, 2023)
14-96241443-C-A		not specified	Uncertain significance (Nov 07, 2023)
14-96241525-T-A		Hereditary angioedema with normal C1Inh	not provided (Feb 01, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BDKRB2	protein_coding	protein_coding	ENST00000306005	2	39651

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.119	0.858	125723	0	5	125728	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.981	198	241	0.822	0.0000150	2550
Missense in Polyphen		63	93.111	0.67662		1070
Synonymous	-0.00108	102	102	1.00	0.00000684	781
Loss of Function	1.95	3	9.49	0.316	4.07e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000492	0.0000327
Other	0.000163	0.000163

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

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

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

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