ADRA2C
Adrenoceptor Alpha 2C
Gene Information Card
| Symbol | ADRA2C |
|---|---|
| Full Name | Adrenoceptor Alpha 2C |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 152 ncbi.nlm.nih.gov/gene/152 |
| Ensembl ID | ENSG00000184160 |
| UniProt ID | P18825 |
| OMIM ID | 104260 |
| HGNC ID | 283 |
| Aliases | ADRA2L1, ADRA2RL1, alpha-2C-adrenergic receptor |
Description
ADRA2C (Adrenoceptor Alpha 2C) is a protein-coding gene that encodes the alpha-2C adrenergic receptor, a member of the G protein-coupled receptor family. This receptor is activated by catecholamines such as norepinephrine and epinephrine and plays a key role in inhibiting neurotransmitter release, modulating sympathetic nervous system activity, and regulating vascular tone. It is primarily expressed in the central nervous system, kidney, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congestive heart failure | ADRA2C polymorphisms may alter receptor function, affecting sympathetic outflow and cardiac contractility. | ClinVar, PMID: 11581295 |
| Hypertension | Variants in ADRA2C can influence blood pressure regulation through altered adrenergic signaling. | ClinVar, PMID: 10810051 |
| Bipolar disorder | Potential association with mood regulation via central adrenergic pathways. | OMIM, PMID: 14601080 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.3 | Low |
| Kidney | 4.1 | Low |
| Heart | 3.8 | Low |
| Adrenal gland | 2.9 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| HEK 293 | 1.8 | Embryonic kidney cells |
| HepG2 | 0.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2236554 (Gly211Arg) | Missense | 0.02 (global) | Altered receptor desensitization; associated with hypertension |
| rs1800544 (Del322-325) | Deletion | 0.04 (global) | Loss of function; linked to heart failure |
| rs61734410 (Ala251Thr) | Missense | 0.01 (global) | Reduced agonist affinity |
Mutation functional classification
Loss of Function (LOF)
rs1800544 (Del322-325) results in a truncated receptor with impaired signaling and reduced cell surface expression.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not documented for ADRA2C.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • alpha2-adrenergic receptor activity |
| • norepinephrine binding | • epinephrine binding |
| • adenylate cyclase inhibiting G protein-coupled receptor signaling pathway | • synaptic transmission |
| • cholinergic | • negative regulation of norepinephrine secretion |
Pathways
• Adrenergic signaling in cardiomyocytes
• cAMP signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
The alpha-2C adrenergic receptor is a 462-amino acid protein with seven transmembrane domains, typical of G protein-coupled receptors. It couples to Gi/o proteins, inhibiting adenylyl cyclase and reducing cAMP levels. The receptor is involved in presynaptic inhibition of neurotransmitter release, particularly in the central nervous system and sympathetic nerve terminals. Post-translational modifications include palmitoylation and phosphorylation, which regulate receptor trafficking and desensitization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRA2C Knockout HEK293 Cell Line | EDJ-KQ50104 | Human | 152 | Details Get a Quote |
| ADRA2C Knockout HeLa Cell Line | EDJ-KQ52569 | Human | 152 | Details Get a Quote |
| ADRA2C Knockout A-549 Cell Line | EDJ-KQ61047 | Human | 152 | Details Get a Quote |
| ADRA2C Knockout HCT 116 Cell Line | EDJ-KQ69526 | Human | 152 | Details Get a Quote |
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