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Gene Report
Basic Info
| Approved Symbol | ADRB1 |
|---|---|
| Previous Symbol | ADRB1R |
| Approved Name | adrenergic, beta-1-, receptor |
| Location | 10q24-q26 |
| Position | chr10:115803806-115806667, + |
| External Links |
HGNC: 285 Entrez Gene: 153 Ensembl: ENSG00000043591 UCSC: uc001lba.2 |
| No. of Studies | 2 (significant: 0; non-significant: 2; trend: 0) |
| Source | Literature-origin; Mapped by literature SNP |
Gene related studies (count: 2)
| Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
|---|---|---|
| Hawi, Z., 2012 | This gene did not show significant association with ADHD. | Non-significant |
| Brookes K, 2006 | UNPHASED TDT P-value=0.249, global P-value=0.613, WHAP TDT P_sum P-value=0.611, no SNP with nominal P-value<0.05 located in this gene | Non-significant |
Gene related SNPs (count: 2)
Literature-origin SNPs (count: 2)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs3813720 | Chr10:115807016(Fwd) | downstream_gene_variant | 1(0/1/0) |
| rs1801253 | Chr10:115805056(Fwd) | missense_variant | 1(0/1/0) |
LD-proxies (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 44)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 44)
Gene related KEGG pathways (count: 6)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04144 | Endocytosis | 39 | Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More... |
| hsa04080 | Neuroactive ligand-receptor interaction | 93 | |
| hsa05414 | Dilated cardiomyopathy | 23 | Dilated cardiomyopathy (DCM) is a heart muscle disease chara...... Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure. More... |
| hsa04020 | Calcium signaling pathway | 63 | Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More... |
| hsa04540 | Gap junction | 27 | Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More... |
| hsa04970 | Salivary secretion | 22 | Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. More... |
Genes shared at least 5 GO terms with ADRB1 (count: 39)
Genes shared at least 2 KEGG pathways with ADRB1 (count: 49)
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Region: chr10:115803806..115806667 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014