ADRB1

adrenoceptor beta 1, the group of Adrenoceptors

Basic information

Region (hg38): 10:114043865-114046904

Previous symbols: [ "ADRB1R" ]

Links

ENSG00000043591 ∙ NCBI:153 ∙ OMIM:109630 ∙ HGNC:285 ∙ Uniprot:P08588 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Beta-blocker response, association with	AD	Pharmacogenomic	The presence of variants may influence medication choice (eg, in congestive heart failure)	Neurologic	10212248; 12197595; 12374873; 16844790; 17496726; 31473062

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADRB1 gene.

• Inborn genetic diseases (16 variants)
• not provided (10 variants)
• Resting heart rate (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRB1 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	5	6
missense			16	1	4	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	9

Variants in ADRB1

This is a list of pathogenic ClinVar variants found in the ADRB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-114044146-T-C			Benign (Aug 18, 2018)
10-114044202-G-C		not specified	Uncertain significance (Aug 12, 2021)
10-114044203-A-C		not specified	Uncertain significance (Aug 12, 2021)
10-114044215-C-G		not specified	Uncertain significance (Mar 24, 2023)
10-114044254-C-G		not specified	Uncertain significance (Mar 01, 2024)
10-114044277-A-G		Resting heart rate • not specified • ADRB1-related disorder	Benign/Likely benign (Oct 28, 2019)
10-114044305-C-T		not specified	Uncertain significance (Nov 22, 2023)
10-114044339-G-A			Benign (Jan 05, 2018)
10-114044360-T-C			Benign (Aug 18, 2018)
10-114044447-G-T			Benign (Aug 21, 2018)
10-114044496-G-A		not specified	Uncertain significance (Aug 22, 2023)
10-114044601-T-C		not specified	Uncertain significance (Apr 20, 2023)
10-114044672-C-T			Benign (Jul 13, 2018)
10-114044692-C-T		SHORT SLEEP, FAMILIAL NATURAL, 2	not provided (May 29, 2024)
10-114044811-G-T		not specified	Uncertain significance (Nov 28, 2023)
10-114044869-G-A		not specified	Uncertain significance (Dec 06, 2021)
10-114044940-G-A			Benign (Mar 19, 2018)
10-114044941-C-A		not specified	Uncertain significance (Mar 31, 2023)
10-114044955-C-T		not specified	Uncertain significance (Feb 23, 2023)
10-114044994-G-A		not specified	Uncertain significance (Nov 18, 2022)
10-114045046-G-C		not specified	Uncertain significance (Nov 06, 2023)
10-114045063-C-A		not specified	Uncertain significance (Mar 14, 2023)
10-114045070-G-C		not specified	Uncertain significance (Sep 20, 2023)
10-114045174-G-T		not specified	Uncertain significance (Jun 07, 2023)
10-114045197-C-A			Benign (Jun 08, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADRB1	protein_coding	protein_coding	ENST00000369295	1	2862

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000288	0.332	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	148	219	0.677	0.0000105	2940
Missense in Polyphen		63	112.92	0.55793		1392
Synonymous	-1.18	119	104	1.15	0.00000516	1103
Loss of Function	0.312	9	10.1	0.894	4.38e-7	105

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: dbNSFP

• Function: FUNCTION: Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling. {ECO:0000269|PubMed:12391161}.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Gap junction - 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);Antiarrhythmic Pathway, Pharmacodynamics;Sympathetic Nerve Pathway (Neuroeffector Junction);Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Bupranolol Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Endothelin Pathways;Melatonin metabolism and effects;GPCRs, Class A Rhodopsin-like;Calcium Regulation in the Cardiac Cell;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Adrenoceptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

• pHI: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adrb1
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism 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); 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)

Zebrafish Information Network

• Gene name: adrb1
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: positive regulation of heart rate by epinephrine-norepinephrine;positive regulation of the force of heart contraction by epinephrine-norepinephrine;diet induced thermogenesis;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;response to cold;heat generation;negative regulation of multicellular organism growth;fear response;positive regulation of GTPase activity;positive regulation of cAMP-mediated signaling;brown fat cell differentiation;regulation of postsynaptic membrane potential;adenylate cyclase-activating adrenergic receptor signaling pathway;positive regulation of cold-induced thermogenesis
• Cellular component: early endosome;plasma membrane;integral component of plasma membrane;Schaffer collateral - CA1 synapse;integral component of postsynaptic density membrane
• Molecular function: adrenergic receptor activity;beta-adrenergic receptor activity;beta1-adrenergic receptor activity;Ras guanyl-nucleotide exchange factor activity;protein binding;PDZ domain binding;alpha-2A adrenergic receptor binding;protein heterodimerization activity;epinephrine binding;norepinephrine binding;G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential