GENE REFERENCE / HGNC:20580

CYP2R1

cytochrome P450 family 2 subfamily R member 1

protein-coding gene11p15.2Gene information

What does this gene do?

The CYP2R1 gene provides instructions for making an enzyme that is part of the cytochrome P450 family of enzymes. Cytochrome P450 enzymes are involved in the activation or breakdown (metabolism) of many medications and hormones, and they help produce cholesterol, certain hormones, and fats (lipids).

The CYP2R1 enzyme carries out the first of two reactions that are required to convert vitamin D to its active form, which is called calcitriol. Vitamin D can be obtained from food or made in the skin after exposure to the sun or to light from certain other sources, such as tanning beds. When active, vitamin D helps maintain the proper balance of calcium and phosphate in the blood. These minerals strengthen bones and teeth and allow them to develop normally. One of vitamin D's major roles is to help regulate the absorption of calcium and phosphate from the intestines into the bloodstream.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-03-24. Source review: 2026-03.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 300
Submissions for variants in or overlapping this gene: 438
Submissions explicitly reporting this gene: 419
Alleles reported pathogenic / likely pathogenic: 30
VariationIDs with uncertain significance: 151
VariationIDs with conflicting classifications: 5

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CYP2R1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 30 alleles in CYP2R1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CYP2R1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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