ADRA2A
Adrenoceptor Alpha 2A
Gene Information Card
| Symbol | ADRA2A |
|---|---|
| Full Name | Adrenoceptor Alpha 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 150 ncbi.nlm.nih.gov/gene/150 |
| Ensembl ID | ENSG00000150594 |
| UniProt ID | P08913 |
| OMIM ID | 104210 |
| HGNC ID | 281 |
| Aliases | ADRA2R, ADRA2L1, ZNF32 |
Description
The ADRA2A gene encodes the alpha-2A adrenergic receptor, a G protein-coupled receptor (GPCR) that mediates the effects of catecholamines such as norepinephrine and epinephrine. This receptor is involved in presynaptic inhibition of neurotransmitter release, regulation of blood pressure, and modulation of pain perception. It is a target for drugs used in hypertension, attention-deficit hyperactivity disorder (ADHD), and sedation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | ADRA2A variants alter receptor sensitivity, affecting sympathetic nervous system regulation and blood pressure control. | ClinVar, PMID: 10620335 |
| Attention-Deficit Hyperactivity Disorder (ADHD) | Polymorphisms in ADRA2A are associated with response to alpha-2A agonists like guanfacine. | ClinVar, PMID: 17997088 |
| Bleeding Disorder, Platelet-Type 15 | Loss-of-function mutations impair platelet aggregation via defective alpha-2A receptor signaling. | OMIM #618291 |
| Postoperative Pain | Genetic variants influence analgesic response to alpha-2 agonists. | PMID: 20683343 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.8 | Medium |
| Brain (cortex) | 10.2 | Medium |
| Adrenal gland | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Reduced receptor affinity for agonists; associated with platelet dysfunction. |
| c.178G>A (p.Gly60Ser) | Missense | <0.01% | Impaired G protein coupling; linked to bleeding disorder. |
| rs1800544 (C-1291G) | Promoter variant | 30-40% | Alters transcription factor binding; associated with ADHD and hypertension. |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg34Cys, p.Gly60Ser) reduce receptor signaling and agonist binding, leading to platelet dysfunction and bleeding disorder.
Gain of Function (GOF)
Not well documented; some promoter variants may increase receptor expression, potentially contributing to hypertension.
Dominant Negative (DN)
No dominant-negative mutations reported for ADRA2A.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • alpha2-adrenergic receptor activity (GO:0004938) |
| • adenylate cyclase inhibiting pathway (GO:0007193) | • norepinephrine binding (GO:0051380) |
| • presynaptic membrane (GO:0042734) |
Pathways
• Adrenergic signaling in cardiomyocytes (KEGG hsa04261)
• Neuroactive ligand-receptor interaction (KEGG hsa04080)
• cAMP signaling pathway (KEGG hsa04024)
Protein Summary
The alpha-2A adrenergic receptor is a 450-amino acid integral membrane protein with seven transmembrane domains. It couples to Gi/o proteins, inhibiting adenylyl cyclase and reducing cAMP levels. The receptor is widely expressed in the central and peripheral nervous systems, platelets, and vascular smooth muscle. It plays a key role in regulating neurotransmitter release, blood pressure, and platelet aggregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRA2A Knockout HEK293 Cell Line | EDJ-KQ1833 | Human | 150 | Details Get a Quote |
| ADRA2A Knockout HeLa Cell Line | EDJ-KQ21690 | Human | 150 | Details Get a Quote |
| ADRA2A Knockout A-549 Cell Line | EDJ-KQ61045 | Human | 150 | Details Get a Quote |
| ADRA2A Knockout HCT 116 Cell Line | EDJ-KQ69524 | Human | 150 | Details Get a Quote |
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