CYP2D7

cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene), the group of Cytochrome P450 family 2

Basic information

Region (hg38): 22:42140203-42149500

Previous symbols: [ "CYP2D", "CYP2D@", "CYP2D7P1", "CYP2D7P" ]

Links

ENSG00000205702

∙ NCBI:1564 ∙ ∙ HGNC:2624 ∙ Uniprot:A0A087X1C5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP2D7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2D7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in CYP2D7

This is a list of pathogenic ClinVar variants found in the CYP2D7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-42141910-T-G			Likely benign (Feb 01, 2024)	2653243

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503). {ECO:0000269|PubMed:15051713, ECO:0000269|PubMed:18838503}.;
Pathway: Codeine and Morphine Pathway, Pharmacokinetics;Codeine and Morphine Metabolism (Consensus)

Gene ontology

Biological process: organic acid metabolic process;xenobiotic metabolic process;arachidonic acid metabolic process;exogenous drug catabolic process;oxidation-reduction process
Cellular component: cytoplasm;mitochondrion;integral component of membrane;intracellular membrane-bounded organelle
Molecular function: iron ion binding;steroid hydroxylase activity;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;heme binding;aromatase activity