ADRB3: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ADRB3

Aliases

BETA3AR

Entrez Gene ID

155

Gene Name

Adrenoceptor beta 3

Chromosomal Location

8p12

HGNC ID

288

Summary

The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. (provided by RefSeq, Feb 2009)

GeneCards ID

GC08M037822

UniGene

Hs.2549

RefSeq mRNA

NM_000025.2

e!Ensembl

Gene	ENSG00000188778
Transcript	ENST00000345060, ENST00000520341
Protein	ENSP00000343782

Gene Ontology (GO)

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002032	Biological process	Desensitization of G-protein coupled receptor protein signaling pathway by arrestin	IDA	15123695
GO:0005975	Biological process	Carbohydrate metabolic process	TAS	2570461
GO:0006091	Biological process	Generation of precursor metabolites and energy	TAS	2570461
GO:0006112	Biological process	Energy reserve metabolic process	TAS	1718744
GO:0006898	Biological process	Receptor-mediated endocytosis	IDA	15123695
GO:0007187	Biological process	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	2570461
GO:0007188	Biological process	Adenylate cyclase-modulating G-protein coupled receptor signaling pathway	TAS	1718744
GO:0007190	Biological process	Activation of adenylate cyclase activity	IDA	15123695
GO:0043410	Biological process	Positive regulation of MAPK cascade	IDA	15123695
GO:0071875	Biological process	Adrenergic receptor signaling pathway	IMP	9892244
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	1718744
GO:0043235	Cellular component	Receptor complex	IDA	15123695
GO:0004939	Molecular function	Beta-adrenergic receptor activity	IDA	15123695
GO:0005515	Molecular function	Protein binding	IPI	15123695
GO:0015052	Molecular function	Beta3-adrenergic receptor activity	IMP	9892244
GO:0042803	Molecular function	Protein homodimerization activity	IDA	15123695
GO:0051380	Molecular function	Norepinephrine binding	IDA	15123695

Protein Information

Protein Name

Beta-3 adrenergic receptor

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

Refseq Proteins

NP_000016.1

UniProt

P13945

PDB

2CDW

InterPro

Accessions

IPR017452, IPR002233, IPR000681, IPR000276

Pfam

Pfam Accession	Pfam ID
PF00001	7tm_1	7 transmembrane receptor (rhodopsin family)

KEGG

Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion

OMIM

109691

Phenotype MIM ID

601665

Associated Diseases

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Diseases	References
Hyperandrogenism	11287026
Polycystic ovary syndrome (PCOS)	21756250

References

Primary:

PMID: 11287026

Candidate gene analysis in premature pubarche and adolescent hyperandrogenism.

Witchel S F, Smith R, Tomboc M, Aston C E

Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania, Pittsburgh 15213, USA. witches@chplink.chp.edu

Fertil Steril. 2001 Apr;75(4):724-30.

Supporting Literature:

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PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
11287026	CYP21 mutations,HSD3B2 variants,IRS-1, GRL	Hyperandrogenism	ADRB3 variants		Related		Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes.