ADRB2
adrenoceptor beta 2, the group of Adrenoceptors
Basic information
Region (hg38): 5:148826611-148828623
Previous symbols: [ "ADRB2R" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Beta-2-adrenoreceptor agonist, reduced response to | AD | Pharmacogenomic | Selection of medications (eg, in asthma treatment) may be influenced by the presence of certain variants | General | 8383511; 7706471; 9399966; 11306963; 11739457; 12030897; 12571262; 15284533; 15500895; 15867853; 16596417 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRB2 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 | 13 | |||||
| missense | 13 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 7 | |||||
| Total | 0 | 0 | 9 | 7 | 17 |
Variants in ADRB2
This is a list of pathogenic ClinVar variants found in the ADRB2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-148826785-C-T | Beta-2-adrenoreceptor agonist, reduced response to | Benign (Nov 10, 2018) | ||
| 5-148826812-C-T | Benign (Nov 10, 2018) | |||
| 5-148826838-C-A | not specified | Uncertain significance (Oct 02, 2023) | ||
| 5-148826844-G-C | ADRB2-related disorder | Uncertain significance (Aug 10, 2023) | ||
| 5-148826877-G-A | salmeterol response - Efficacy | drug response (Mar 24, 2021) | ||
| 5-148826877-G-G | RECLASSIFIED - ADRB2 POLYMORPHISM | Benign (Dec 31, 2019) | ||
| 5-148826887-C-A | not specified | Uncertain significance (May 03, 2023) | ||
| 5-148826897-C-T | Benign (Aug 16, 2018) | |||
| 5-148826910-G-G | ADRB2 POLYMORPHISM | Benign (Dec 31, 2019) | ||
| 5-148827017-G-C | not specified | Uncertain significance (May 14, 2024) | ||
| 5-148827037-A-G | Benign (Dec 31, 2019) | |||
| 5-148827083-G-A | Benign (Nov 10, 2018) | |||
| 5-148827107-C-G | Likely benign (Mar 30, 2018) | |||
| 5-148827238-C-T | not specified | Uncertain significance (May 09, 2023) | ||
| 5-148827251-G-C | not specified | Uncertain significance (Sep 14, 2022) | ||
| 5-148827322-C-T | Beta-2-adrenoreceptor agonist, reduced response to | Benign (Nov 01, 2022) | ||
| 5-148827323-C-A | Likely benign (Jul 07, 2018) | |||
| 5-148827336-A-G | not specified | Uncertain significance (Jun 29, 2023) | ||
| 5-148827354-C-A | Benign (Jun 09, 2021) | |||
| 5-148827391-A-G | Likely benign (May 02, 2018) | |||
| 5-148827490-C-G | Benign (Dec 31, 2019) | |||
| 5-148827602-A-T | ADRB2-related disorder | Likely benign (May 03, 2018) | ||
| 5-148827671-C-T | ADRB2-related disorder | Likely benign (Jan 28, 2020) | ||
| 5-148827706-T-A | not specified | Uncertain significance (Mar 02, 2023) | ||
| 5-148827813-C-T | not specified | Uncertain significance (Sep 27, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADRB2 | protein_coding | protein_coding | ENST00000305988 | 1 | 2041 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.525 | 0.471 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.35 | 180 | 239 | 0.755 | 0.0000141 | 2728 |
| Missense in Polyphen | 32 | 76.146 | 0.42025 | 924 | ||
| Synonymous | -0.225 | 101 | 98.2 | 1.03 | 0.00000608 | 826 |
| Loss of Function | 2.46 | 2 | 10.7 | 0.188 | 4.69e-7 | 124 |
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) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine. {ECO:0000269|PubMed:2831218, ECO:0000269|PubMed:7915137}.;
- Pathway
- Regulation of lipolysis in adipocytes - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Renin secretion - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;Antiarrhythmic Pathway, Pharmacodynamics;Sympathetic Nerve Pathway (Neuroeffector Junction);GPCRs, Other;Vitamin D Receptor Pathway;GPCRs, Class A Rhodopsin-like;Calcium Regulation in the Cardiac Cell;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;phospholipase c-epsilon pathway;Vesicle-mediated transport;corticosteroids and cardioprotection;cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;Membrane Trafficking;activation of camp-dependent protein kinase pka;Post-translational protein modification;Metabolism of proteins;G alpha (s) signalling events;Adrenoceptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;Clathrin-mediated endocytosis;-arrestins in gpcr desensitization;Ub-specific processing proteases;Deubiquitination;Cargo recognition for clathrin-mediated endocytosis;Arf6 trafficking events;GPCR downstream signalling;Arf6 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.802
Intolerance Scores
- loftool
- 0.396
- rvis_EVS
- 0.42
- rvis_percentile_EVS
- 77.06
Haploinsufficiency Scores
- pHI
- 0.170
- hipred
- Y
- hipred_score
- 0.669
- ghis
- 0.427
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.430
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adrb2
- 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); hematopoietic system phenotype; immune system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype;
Zebrafish Information Network
- Gene name
- adrb2a
- Affected structure
- integument
- Phenotype tag
- abnormal
- Phenotype quality
- decreased pigmentation
Gene ontology
- Biological process
- diet induced thermogenesis;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;regulation of sodium ion transport;desensitization of G protein-coupled receptor signaling pathway by arrestin;receptor-mediated endocytosis;cell surface receptor signaling pathway;activation of transmembrane receptor protein tyrosine kinase activity;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;endosome to lysosome transport;response to cold;positive regulation of protein kinase A signaling;protein deubiquitination;positive regulation of bone mineralization;positive regulation of protein ubiquitination;heat generation;negative regulation of multicellular organism growth;positive regulation of MAPK cascade;bone resorption;positive regulation of transcription by RNA polymerase II;negative regulation of smooth muscle contraction;brown fat cell differentiation;membrane organization;positive regulation of mini excitatory postsynaptic potential;adrenergic receptor signaling pathway;adenylate cyclase-activating adrenergic receptor signaling pathway;positive regulation of protein serine/threonine kinase activity;positive regulation of cold-induced thermogenesis;positive regulation of autophagosome maturation;positive regulation of lipophagy;cellular response to amyloid-beta;response to psychosocial stress;positive regulation of cAMP-dependent protein kinase activity;positive regulation of AMPA receptor activity
- Cellular component
- nucleus;lysosome;endosome;early endosome;plasma membrane;integral component of plasma membrane;endosome membrane;membrane;apical plasma membrane;clathrin-coated vesicle membrane;receptor complex
- Molecular function
- amyloid-beta binding;adrenergic receptor activity;beta2-adrenergic receptor activity;protein binding;adenylate cyclase binding;potassium channel regulator activity;protein homodimerization activity;protein-containing complex binding;epinephrine binding;norepinephrine binding