DRD2 (Dopamine Receptor D2) Gene

Genomics

See Also

• [Dopamine Beta-Hydroxylase (DBH)]?
• [Dopamine Beta Hydroxylase and ABO Groups]?
• [DRD4 (Dopamine Receptor D4) Gene]?
• [Reduced platelet MAO activity in healthy male students with blood group O]?

Description

• Gene type: protein coding
• Gene name: DRD2
• Gene description: dopamine receptor D2
• Chromosome: 11; Location: 11q23
• Organism: Homo sapiens
• Gene aliases: D2R; D2DR

Summary

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing.

Discussion

These results suggest the importance of genetic determinants of the dopaminergic system in understanding the P300 as a risk marker for substance abuse using an integrative developmental perspective. [1]

Results suggest that both the DRD2 promoter region and the DAT gene do not play a significant role in conferring vulnerability to alcoholism. [2]

Significant age-related decline was observed for dopamine receptor mRNAs in the hippocampus and entorhinal cortex. [3]

Genetically transmitted variation in D2 dopamine receptor expression mediated by functional polymorphisms affecting transcription and translation efficiency may play a role in vulnerability to anorexia nervosa. [4]

Links