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DRD5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DRD5 gene

The DRD5 gene provides instructions for making the dopamine receptor D5 protein, which plays a critical role in regulating attention, mood, memory, learning, and movement.

Normal Function

The DRD5 gene provides instructions for making a protein called dopamine receptor D5, which is found in the brain. This protein works together with a chemical messenger (neurotransmitter) called dopamine. Dopamine fits into the D5 receptor like a key in a lock, which triggers chemical reactions within nerve cells. Dopamine performs many important roles in the brain, including regulating attention, mood, memory, learning, and movement.

Health Conditions Related to Genetic Changes

Benign essential blepharospasm

Several studies have examined a possible relationship between a common variation (polymorphism) in the DRD5 gene and benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that the polymorphism, a short segment of DNA known as allele 2 that repeats multiple times within the gene, occurs more often in people with benign essential blepharospasm than in people without the disorder. However, other studies have found no connection between this polymorphism and benign essential blepharospasm.

Other disorders

Other polymorphisms in the DRD5 gene appear to be associated with a common behavioral condition called attention-deficit/hyperactivity disorder (ADHD). This condition, which typically begins in childhood, is characterized by overactivity, impulsive behavior, and difficulty paying attention.

Most studies of the DRD5 gene and ADHD have focused on a polymorphism located near the beginning of the gene. The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a row. Multiple studies have suggested that a particular polymorphism, which is 148-base pairs long, is associated with a moderately increased risk of ADHD. However, it is unclear how this polymorphism affects the risk of the disorder.

Other Names for This Gene

  • D1beta dopamine receptor
  • DBDR
  • dopamine D5 receptor
  • dopamine receptor D1B
  • DRD1B
  • DRD1L2
  • DRD5_HUMAN

Frequently Asked Questions

The relationship between DRD5 gene polymorphisms and benign essential blepharospasm remains inconclusive. Some studies have suggested that a specific allele, known as allele 2, which involves multiple repeats of a short DNA segment, is more common in patients with blepharospasm. However, other research has failed to find a significant connection, indicating that while the DRD5 gene may play a role, it is not a definitive predictor of the disorder.
Currently, genetic testing for the DRD5 gene is not used for the clinical diagnosis of ADHD or for predicting how a patient will respond to medication. ADHD is a complex condition influenced by multiple genes and environmental factors, so a single gene variation is not sufficient for diagnosis. Treatment decisions are based on clinical evaluation and symptom management rather than genetic profiling.
The dopamine receptor D5 is crucial for regulating attention, mood, memory, and learning by binding to dopamine and triggering chemical reactions in nerve cells. Genetic variations in the DRD5 gene can alter the receptor's structure or density, which may change how effectively dopamine signals are transmitted. These changes can subtly influence cognitive functions and emotional regulation, potentially contributing to variations in behavior and susceptibility to certain neurological or psychiatric conditions.
Research has identified a specific polymorphism near the beginning of the DRD5 gene, involving a repeat of 148 base pairs, that is associated with a moderately increased risk of attention-deficit/hyperactivity disorder (ADHD). This genetic variation affects how the dopamine receptor D5 functions, potentially altering dopamine signaling in brain regions responsible for attention and impulse control. However, this gene is only one of many factors involved in ADHD, and having the polymorphism does not guarantee the development of the condition.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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