CYP2D7
Cytochrome P450 Family 2 Subfamily D Member 7 (Pseudogene)
Gene Information Card
| Symbol | CYP2D7 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily D Member 7 (Pseudogene) |
| Gene Type | Pseudogene |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 1564 ncbi.nlm.nih.gov/gene/1564 |
| Ensembl ID | ENSG00000100197 |
| UniProt ID | P11712 (CYP2D6 reference; CYP2D7 not translated) |
| OMIM ID | 124030 |
| HGNC ID | 2626 |
| Aliases | CYP2D7P, CYP2D8, CYP2D7AP |
Description
CYP2D7 is a pseudogene located within the CYP2D gene cluster on chromosome 22q13.2. It is highly homologous to the functional CYP2D6 gene but contains several inactivating mutations, including a frameshift and premature stop codons, rendering it non-functional. CYP2D7 is not translated into a functional protein and does not contribute to drug metabolism. It is often studied in the context of CYP2D6 genotyping due to sequence similarity that can interfere with accurate variant detection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No direct disease association | CYP2D7 is a pseudogene and not associated with disease | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Not expressed as protein | N/A | N/A |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not expressed as protein | N/A | N/A |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137_138insT | Frameshift | 100% in reference genome | Introduces premature stop codon; pseudogene inactivation |
Mutation functional classification
Loss of Function (LOF)
CYP2D7 is inherently non-functional due to a frameshift mutation (c.137_138insT) causing a premature stop codon.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported.
View complete mutation data：
Protein Summary
CYP2D7 does not encode a functional protein. It is a pseudogene with high sequence similarity to CYP2D6 but contains a frameshift mutation that prevents translation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2D7 Knockout HEK293 Cell Line | EDJ-KQ4402 | Human | 1564 | Details Get a Quote |
| CYP2D7 Knockout A-549 Cell Line | EDJ-KQ26927 | Human | 1564 | Details Get a Quote |
| CYP2D7 Knockout HCT 116 Cell Line | EDJ-KQ26928 | Human | 1564 | Details Get a Quote |
| CYP2D7 Knockout HeLa Cell Line | EDJ-KQ26929 | Human | 1564 | Details Get a Quote |
