ADRB2 adrenoceptor beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADRB2provided by HGNC
Official Full Name: adrenoceptor beta 2provided by HGNC
Primary source: HGNC:HGNC:286
See related: Ensembl:ENSG00000169252 MIM:109690
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAR; B2AR; ADRBR; ADRB2R; BETA2AR
Summary: This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]
Orthologs: mouse all

Genomic context

Location:: 5q32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (148826611..148828623)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (148206156..148254628)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in the NPxxY motif stabilize pharmacologically distinct conformational states of the alpha1B- and beta2-adrenoceptors.
Title: Mutations in the NPxxY motif stabilize pharmacologically distinct conformational states of the α1B- and β2-adrenoceptors.
In a Chinese Han population, we identified ADRB2 polymorphisms (rs1042711 and rs1560642) that were associated with increased risk of lung cancer, and polymorphisms in IL33 (rs7025417) and IL2RB (rs5756523 and rs2284033) that were associated with decreased disease risk.
Title: Association between ADRB2, IL33, and IL2RB gene polymorphisms and lung cancer risk in a Chinese Han population.
Genetic variations in the ADRB2 gene influences the age at which Duchenne muscular dystrophy patients develop hypoventilation.
Title: Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy.
beta2AR is an independent poor prognostic factor in ER-negative breast cancer. The findings suggest that tumor beta2AR regulates immune checkpoint activity, which may have therapeutic implications for patients with ER-negative breast cancer.
Title: β2-Adrenergic receptor expression is associated with biomarkers of tumor immunity and predicts poor prognosis in estrogen receptor-negative breast cancer.
this study supports the hypothesis that alterations in the COMT and ADRB2 genes influence the muscular pathophysiology in temporomandibular disorder
Title: Evaluation of genetic risk related to catechol-O-methyltransferase (COMT) and β2-adrenergic receptor (ADRB2) activity in different diagnostic subgroups of temporomandibular disorder in Brazilian patients.
The genotype C/G of the Gln27Glu polymorphism of the beta2-AR gene was associated with a decreased risk of low triiodothyronine syndrome development
Title: The association of polymorphisms of β-adrenergic receptors genes with the low triiodothyronine syndrome in patients with a heart failure.
Effect of Adenylyl Cyclase Type 6 on Localized Production of cAMP by beta-2 Adrenoceptors in Human Airway Smooth-Muscle Cells
Title: Effect of Adenylyl Cyclase Type 6 on Localized Production of cAMP by β-2 Adrenoceptors in Human Airway Smooth-Muscle Cells.
Expression of the C79G polymorphism of the ADRB2 gene was significantly associated with risk of pediatric asthma associated with the C or G allele with comparison of the co-dominant model (GG vs. CC: OR, 0.69; 95% CI, 0.55-0.88) and the recessive model (GG vs. CC+CG: OR, 0.65; 95% CI, 0.53-0.81). The C79G polymorphism was associated with a reduced risk for the development of pediatric asthma.
Title: The C79G Polymorphism of the β2-Adrenergic Receptor Gene, ADRB2, and Susceptibility to Pediatric Asthma: Meta-Analysis from Review of the Literature.
no significant association between haplotypes of both single nucleotide polymorphisms (arg16gly and gln27glu) and asthma (p>0.05); adrenergic receptor b2 did not contribute markedly to susceptibility to asthma (p>0.05) (Meta-Analysis)
Title: Association of arg16gly and gln27glu, b2-adrenergic receptor gene polymorphism with asthma. A systematic review and meta-analysis of case control studies.
ADRB2 is negatively regulated by miR-15a-5p, which inhibits IL-13-induced nasal epithelial inflammatory responses.
Title: ADRB2 suppresses IL-13-induced allergic rhinitis inflammatory cytokine regulated by miR-15a-5p.

Submit: New GeneRIF Correction See all GeneRIFs (680)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Asthma, susceptibility to MedGen: C1869116 OMIM: 600807 GeneReviews: Not available	Compare labs
Obesity MedGen: C0028754 OMIM: 601665 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:606222 (e-PCR)
- UniSTS:158215

GDB:606238 (e-PCR)
- UniSTS:158219

GDB:606265 (e-PCR)
- UniSTS:158222

ADRB2 (e-PCR)
- UniSTS:504882

PMC109640P1 (e-PCR)
- UniSTS:270173

ADRB2sts1 (e-PCR)
- UniSTS:258478

ADRB2 (e-PCR)
- UniSTS:265908

PMC115184P1 (e-PCR)
- UniSTS:270293

RH79898 (e-PCR)
- UniSTS:87528

GDB:294209 (e-PCR)
- UniSTS:156395

ADRB2_1263 (e-PCR)
- UniSTS:276979

ADRB2_v364 (e-PCR)
- UniSTS:276979

WI-19151 (e-PCR)
- UniSTS:65272

Homology

Homologs of the ADRB2 gene: The ADRB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 304 organisms have orthologs with human gene ADRB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adenylate cyclase binding	IEA Inferred from Electronic Annotation more info
amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
beta2-adrenergic receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
beta2-adrenergic receptor activity	IDA Inferred from Direct Assay more info	PubMed
beta2-adrenergic receptor activity	NAS Non-traceable Author Statement more info	PubMed
epinephrine binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
norepinephrine binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
norepinephrine binding	IDA Inferred from Direct Assay more info	PubMed
potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
activation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
activation of transmembrane receptor protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adrenergic receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
bone resorption	IEA Inferred from Electronic Annotation more info
brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
desensitization of G protein-coupled receptor signaling pathway by arrestin	IDA Inferred from Direct Assay more info	PubMed
diet induced thermogenesis	IEA Inferred from Electronic Annotation more info
endosome to lysosome transport	TAS Traceable Author Statement more info	PubMed
heat generation	IEA Inferred from Electronic Annotation more info
membrane organization	TAS Traceable Author Statement more info
negative regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
negative regulation of smooth muscle contraction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of AMPA receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of autophagosome maturation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
positive regulation of cAMP-dependent protein kinase activity	TAS Traceable Author Statement more info	PubMed
positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of lipophagy	IDA Inferred from Direct Assay more info	PubMed
positive regulation of mini excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
positive regulation of protein kinase A signaling	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of protein serine/threonine kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
protein deubiquitination	TAS Traceable Author Statement more info
receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
regulation of sodium ion transport	IEA Inferred from Electronic Annotation more info
response to cold	IEA Inferred from Electronic Annotation more info
response to psychosocial stress	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
clathrin-coated vesicle membrane	TAS Traceable Author Statement more info
early endosome	IEA Inferred from Electronic Annotation more info
endosome	TAS Traceable Author Statement more info	PubMed
endosome membrane	TAS Traceable Author Statement more info
integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
lysosome	TAS Traceable Author Statement more info	PubMed
membrane	NAS Non-traceable Author Statement more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-2 adrenergic receptor

Names: adrenergic, beta-2-, receptor, surface; adrenoceptor beta 2 surface; beta-2 adrenoceptor; beta-2 adrenoreceptor; catecholamine receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.