Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0521 Transporter Info | ||||
| Gene Name | CACNA2D3 | ||||
| Protein Name | Voltage-dependent calcium channel alpha-2/delta-3 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs7427395 | ||||
| Site of GPD | chr3:54365581 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | T=0.1305/503 (Global) | ||||
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Antipsychotics | N.A. | Major Depressive Disorder | Genotype CC is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype TT. | [ 1] | |
| Antipsychotics | N.A. | Schizophrenia | Correlated with the increased drug response in patients (compare with genotype TT) | [ 1] | |
| Genetic Polymorphism | rs11130424 | ||||
| Site of GPD | chr3:54544778 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A | ||||
| Minor Allele Frequency | G=0.5140/1017 (Global) | ||||
| Genotypes AG + GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Radiotherapy | N.A. | Major Depressive Disorder | Genotypes AG + GG is associated with increased resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to genotype AA. | [ 2] | |
| Genetic Polymorphism | rs4505744 | ||||
| Site of GPD | chr3:54220102 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A | ||||
| Minor Allele Frequency | G=0.6670/1319 (Global) | ||||
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antipsychotics | N.A. | Major Depressive Disorder | Genotype AA is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype GG. | [ 1] | |
| References | |||||
| 1 | Variation within voltage-gated calcium channel genes and antipsychotic treatment response in a South African first episode schizophrenia cohort. Pharmacogenomics J. 2019 Feb;19(1):109-114. | ||||
| 2 | A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma. J Transl Med. 2023 Jan 09;21(1):11. | ||||
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