ADRA2B
Adrenoceptor Alpha 2B
Gene Information Card
| Symbol | ADRA2B |
|---|---|
| Full Name | Adrenoceptor Alpha 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 151 ncbi.nlm.nih.gov/gene/151 |
| Ensembl ID | ENSG00000181222 |
| UniProt ID | P18089 |
| OMIM ID | 104260 |
| HGNC ID | 282 |
| Aliases | ADRA2L1, ADRA2RL1, ALPHA2BAR |
Description
The ADRA2B gene encodes the alpha-2B adrenergic receptor, a member of the G protein-coupled receptor family. This receptor mediates the effects of catecholamines such as norepinephrine and epinephrine, primarily through inhibition of adenylyl cyclase via Gi/Go proteins. It is involved in vasoconstriction, regulation of blood pressure, and modulation of neurotransmitter release. The gene is located on chromosome 2q11.2 and spans approximately 20 kb, containing a single coding exon.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | ADRA2B variants may alter receptor function, affecting vascular tone and blood pressure regulation. | PMID: 10618347 |
| Obesity | Polymorphisms in ADRA2B have been associated with altered metabolic rate and fat distribution. | PMID: 15181060 |
| Attention-Deficit/Hyperactivity Disorder (ADHD) | ADRA2B variants may influence noradrenergic signaling in prefrontal cortex, affecting attention and impulse control. | PMID: 18470922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.7 | Low |
| Kidney | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in transfected cells |
| SH-SY5Y | 9.8 | Endogenous expression |
| HepG2 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1800544 (Glu12Glu) | synonymous | 0.35 (global) | No known functional effect |
| rs2229169 (Ala178Thr) | missense | 0.02 (global) | May alter receptor internalization |
| rs1042718 (Gly16Arg) | missense | 0.12 (global) | Associated with altered agonist response |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in ADRA2B.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ADRA2B.
Dominant Negative (DN)
No dominant-negative mutations reported for ADRA2B.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • alpha2-adrenergic receptor activity (GO:0004938) |
| • adenylate cyclase inhibiting G protein-coupled receptor signaling pathway (GO:0007193) | • norepinephrine binding (GO:0051380) |
| • plasma membrane (GO:0005886) |
Pathways
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
• cAMP signaling pathway (KEGG: hsa04024)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The alpha-2B adrenergic receptor is a 450-amino acid protein with seven transmembrane domains, typical of G protein-coupled receptors. It is expressed in various tissues including brain, adipose, and vascular smooth muscle. Upon agonist binding, the receptor couples to Gi/Go proteins, inhibiting adenylyl cyclase and reducing cAMP levels. This receptor plays a key role in vasoconstriction, blood pressure regulation, and modulation of neurotransmitter release. Structural studies have identified key residues for ligand binding and G protein coupling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRA2B Knockout HEK293 Cell Line | EDJ-KQ1834 | Human | 151 | Details Get a Quote |
| ADRA2B Knockout HeLa Cell Line | EDJ-KQ52568 | Human | 151 | Details Get a Quote |
| ADRA2B Knockout A-549 Cell Line | EDJ-KQ61046 | Human | 151 | Details Get a Quote |
| ADRA2B Knockout HCT 116 Cell Line | EDJ-KQ69525 | Human | 151 | Details Get a Quote |
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