BDKRB2
bradykinin receptor B2, the group of Bradykinin receptors
Basic information
Region (hg38): 14:96204678-96244166
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (7 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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 7 | 1 | 8 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 1 | 2 |
Variants in BDKRB2
This is a list of pathogenic ClinVar variants found in the BDKRB2 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-96237148-G-A | Inborn genetic diseases | Likely benign (Jun 29, 2023) | ||
| 14-96240513-C-A | Inborn genetic diseases | Uncertain significance (Mar 06, 2023) | ||
| 14-96240563-C-G | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | ||
| 14-96240629-G-A | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | ||
| 14-96240692-G-A | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | ||
| 14-96240794-T-C | Inborn genetic diseases | Uncertain significance (Apr 07, 2022) | ||
| 14-96240839-G-A | Inborn genetic diseases | Uncertain significance (Mar 01, 2023) | ||
| 14-96240927-A-C | Inborn genetic diseases | Uncertain significance (Mar 29, 2023) | ||
| 14-96240949-C-A | Inborn genetic diseases | Uncertain significance (Apr 05, 2023) | ||
| 14-96240954-C-A | Inborn genetic diseases | Uncertain significance (Feb 03, 2022) | ||
| 14-96241173-G-T | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | ||
| 14-96241190-A-G | Inborn genetic diseases | Likely benign (Jan 10, 2023) | ||
| 14-96241247-G-A | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | ||
| 14-96241261-T-C | Benign (Jan 08, 2018) | |||
| 14-96241262-G-A | Inborn genetic diseases | Uncertain significance (Dec 12, 2022) | ||
| 14-96241389-G-A | Benign (Aug 16, 2018) | |||
| 14-96241390-G-A | Likely benign (Jun 20, 2018) | |||
| 14-96241442-A-G | Inborn genetic diseases | Uncertain significance (Mar 22, 2023) | ||
| 14-96241525-T-A | Hereditary angioedema with normal C1Inh | not provided (Feb 01, 2020) |
GnomAD
Source:
| 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:
- 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
| 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