Gene Gene information from NCBI Gene database.
Entrez ID 153
Gene name Adrenoceptor beta 1
Gene symbol ADRB1
Synonyms (NCBI Gene)
ADRB1RB1ARBETA1ARFNSS2RHR
Chromosome 10
Chromosome location 10q25.3
Summary The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1801253 G>A,C Drug-response Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
860
miRTarBase ID miRNA Experiments Reference
MIRT717492 hsa-miR-188-5p HITS-CLIP 19536157
MIRT717491 hsa-miR-6866-3p HITS-CLIP 19536157
MIRT717490 hsa-miR-186-3p HITS-CLIP 19536157
MIRT717489 hsa-miR-3124-3p HITS-CLIP 19536157
MIRT717488 hsa-miR-2113 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001996 Process Positive regulation of heart rate by epinephrine-norepinephrine IEA
GO:0001997 Process Positive regulation of the force of heart contraction by epinephrine-norepinephrine IEA
GO:0002024 Process Diet induced thermogenesis IEA
GO:0002025 Process Norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure IBA
GO:0002025 Process Norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109630 285 ENSG00000043591
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08588
Protein name Beta-1 adrenergic receptor (Beta-1 adrenoreceptor) (Beta-1 adrenoceptor)
Protein 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
PDB 2LSQ , 7BTS , 7BU6 , 7BU7 , 7BVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 75 377 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
SHORT SLEEP, FAMILIAL NATURAL, 2 Pathogenic rs776439595 RCV000851538
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADRB1-related disorder Likely benign; association; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 16189366, 26602751
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16671086
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 21617318, 22664639, 37102236, 38138160 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24371822 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 20384459, 22192668, 22617224, 24332148, 24910551, 29754666
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 20625396, 22192668, 22499333, 24159564, 24332148, 24982877, 34270905 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31276517
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 29230810 Associate
★☆☆☆☆
Found in Text Mining only
Body Weight Body weight Pubtator 29587766 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25849179, 28031536
★☆☆☆☆
Found in Text Mining only