Home > Gene Browser > CYP2D6

CYP2D6

Synonyms
CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, CYPIID6, P450-DB1, P450C2D, P450DB1
External resources
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
172
Likely pathogenic
0
VUS
14,517
Likely benign
2,284
Benign
129

Patient phenotypes

Proportions of phenotypes among 171 patients carring pathogenic or likely pathogenic variants on CYP2D6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.2%
Abnormality of the eye
29.2%
Abnormality of the musculoskeletal system
24.6%
Abnormality of head or neck
19.3%
Abnormality of the ear
18.7%
Abnormality of the cardiovascular system
17%
Growth abnormality
16.4%
Abnormality of limbs
13.5%
Abnormality of the genitourinary system
12.3%
Abnormality of blood and blood-forming tissues
7%
Abnormality of the immune system
7%
Abnormality of the digestive system
5.3%
Abnormality of the integument
5.3%
Abnormality of prenatal development or birth
3.5%
Abnormality of the endocrine system
2.9%
Abnormality of the respiratory system
2.3%
Neoplasm
1.8%
Abnormal cellular phenotype
0.6%
Constitutional symptom
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes