ADRB3

adrenoceptor beta 3, the group of Adrenoceptors

Basic information

Region (hg38): 8:37962989-37966599

Links

ENSG00000188778 ∙ NCBI:155 ∙ OMIM:109691 ∙ HGNC:288 ∙ Uniprot:P13945 ∙ 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 ADRB3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRB3 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			23		2	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					4	4
Total	0	0	23	1	7

Variants in ADRB3

This is a list of pathogenic ClinVar variants found in the ADRB3 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-37963968-C-G			Benign (Jun 18, 2021)
8-37964335-T-C			Benign (Jun 18, 2021)
8-37964944-T-TA			Benign (Jun 18, 2021)
8-37965251-C-A			Benign (Oct 18, 2018)
8-37965350-C-A		not specified	Uncertain significance (Aug 13, 2021)
8-37965350-C-T		not specified	Uncertain significance (Nov 06, 2023)
8-37965413-G-A			Benign (Mar 29, 2018)
8-37965443-G-C		not specified	Uncertain significance (Dec 19, 2023)
8-37965457-T-C		Obesity • not specified	Uncertain significance (Apr 22, 2022)
8-37965485-G-A		not specified	Uncertain significance (Sep 26, 2023)
8-37965492-C-A			Likely benign (May 24, 2018)
8-37965685-G-C		not specified	Uncertain significance (May 24, 2023)
8-37965685-G-T		not specified	Uncertain significance (Jun 04, 2024)
8-37965686-G-A		not specified	Uncertain significance (Aug 02, 2023)
8-37965703-C-A		not specified	Uncertain significance (Aug 16, 2022)
8-37965728-C-G		not specified	Uncertain significance (Nov 15, 2021)
8-37965773-G-T		not specified	Uncertain significance (Mar 22, 2023)
8-37965778-G-A		not specified	Uncertain significance (Nov 30, 2022)
8-37965892-G-C		not specified	Uncertain significance (Apr 13, 2022)
8-37965941-A-G		not specified	Uncertain significance (Apr 05, 2023)
8-37966010-C-A		not specified	Uncertain significance (Feb 05, 2024)
8-37966018-T-C		Obesity • not specified	Uncertain significance (Apr 22, 2022)
8-37966075-G-T		not specified	Uncertain significance (Dec 16, 2023)
8-37966096-A-G		not specified	Uncertain significance (Feb 16, 2023)
8-37966168-C-A		not specified	Uncertain significance (Jun 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADRB3	protein_coding	protein_coding	ENST00000345060	2	3968

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.46e-7	0.165	125126	0	24	125150	0.0000959

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.406	214	231	0.925	0.0000107	2476
Missense in Polyphen		97	113.51	0.85454		1253
Synonymous	0.104	109	110	0.987	0.00000532	966
Loss of Function	-0.0646	10	9.78	1.02	4.23e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000383	0.000306
Ashkenazi Jewish	0.00	0.00
East Asian	0.000681	0.000655
Finnish	0.00	0.00
European (Non-Finnish)	0.00000931	0.00000885
Middle Eastern	0.000681	0.000655
South Asian	0.0000666	0.0000653
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. Beta-3 is involved in the regulation of lipolysis and thermogenesis.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Calcium 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);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)

Recessive Scores

• pRec: 0.420

Intolerance Scores

• loftool: 0.150
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.304
• hipred: Y
• hipred_score: 0.645

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.448

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adrb3
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism 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

Zebrafish Information Network

• Gene name: adrb3b
• Affected structure: vertebra 2
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;desensitization of G protein-coupled receptor signaling pathway by arrestin;carbohydrate metabolic process;generation of precursor metabolites and energy;energy reserve metabolic process;receptor-mediated endocytosis;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;positive regulation of MAPK cascade;adenylate cyclase-activating adrenergic receptor signaling pathway;positive regulation of cold-induced thermogenesis
• Cellular component: plasma membrane;integral component of plasma membrane;receptor complex
• Molecular function: adrenergic receptor activity;beta-adrenergic receptor activity;protein binding;beta3-adrenergic receptor activity;protein homodimerization activity;epinephrine binding;norepinephrine binding